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Journal articles on the topic 'Oligogene'

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Published: 10 March 2023

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1

Hadden, T. J., and A. Sodja. "An Oligogene Family Encodes Actins in the Housefly, Musca domestica." Biochemical and Biophysical Research Communications 203, no. 1 (August 1994): 523–31. http://dx.doi.org/10.1006/bbrc.1994.2214.

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Hohmann, Margarete, Renate Schmelz, Jochen Hampe, and Sebastian Zeißig. "Sinnvolle genetische Untersuchungen in der Gastroenterologie." DMW - Deutsche Medizinische Wochenschrift 143, no. 20 (October 2018): 1477–80. http://dx.doi.org/10.1055/a-0588-1684.

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Was ist neu? Hereditäre Pankreatitis In den letzten Jahren konnten mehrere Genmutationen nachgewiesen werden, die ursächlich für die Ausbildung einer hereditären Pankreatitis sind. Sie spielen auch bei der Entstehung einer chronischen Pankreatitis anderer Ätiologie eine wichtige Rolle, wobei Lebensstilfaktoren hierbei in den Vordergrund treten. Chronisch entzündliche Darmerkrankungen Das Wissen um die komplexe und multifaktorielle Ätiologie des Morbus Crohn und der Colitis ulcerosa wurde in den letzten Jahren durch die Identifikation von bislang über 200 Risikogenvarianten erweitert. Diese tragen zur Krankheitsentstehung bei, wobei Umweltfaktoren weiterhin eine entscheidende Rolle zukommt. Darüber hinaus wurden seltene mono- bzw. oligogene CED-Formen nachgewiesen, die sich durch ein frühes Erkrankungsalter auszeichnen und die die Möglichkeit spezifischer Therapieansätze bieten. Fettlebererkrankungen und hepatozelluläres Karzinom Genetische Varianten u. a. in den Genen PNPLA3, TM6SF2 und MBOAT7 tragen zu Entstehung und Progression einer Fettlebererkrankung auf dem Boden eines metabolischen Syndroms bzw. von Alkoholkonsum bei. Darüber hinaus erhöhen sie das Risiko für die Entwicklung eines hepatozellulären Karzinoms. Eine genetische Testung aller Patienten mit Fettleber wird derzeit (noch) nicht empfohlen.

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Rohrschneider, Klaus, and Hanno Jörn Bolz. "Bardet-Biedl-Syndrom – Diagnose und klinischer Verlauf." Klinische Monatsblätter für Augenheilkunde 237, no. 03 (March 2020): 239–47. http://dx.doi.org/10.1055/a-1118-3748.

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ZusammenfassungDas Bardet-Biedl-Syndrom (BBS) ist eine seltene, erblich bedingte Ziliopathie, bei der neben einer Netzhautdystrophie, meist in Form einer Stäbchen-Zapfen-Dystrophie (Retinitis pigmentosa, RP), zahlreiche weitere Symptome bestehen, vor allem Stammfettsucht, Polydaktylie, Nierenveränderungen und Lernbehinderung bzw. Intelligenzminderung. Mindestens 25 ursächliche Gene, die für Proteine mit wichtiger Rolle bei Entwicklung und Funktion primärer Zilien kodieren, sind bisher bekannt. Die Störung der mit zahlreichen Entwicklungssignalwegen assoziierten Zilien erklärt die in unterschiedlichen Organen auftretenden Symptome. Aufgrund der ursächlichen Beteiligung so vieler Gene ist das BBS eine Erkrankung, bei der Ärzte in besonderem Maße von neuen Methoden der molekulargenetischen Diagnostik profitieren: Durch Next-Generation Sequencing (NGS) können alle krankheitsrelevanten Gene im Rahmen einer sogenannten „Panelanalyse“ parallel untersucht werden. Signifikante Genotyp-Phänotyp-Korrelationen hinsichtlich der Art der Netzhautbeteiligung bestehen nicht. Neben der klassischen autosomal-rezessiven Vererbung wurden oligogene oder triallelische Vererbungsformen, bei denen die Erkrankung aus einem kombinierten Effekt verschiedener Allele in mehreren Genen resultiert, beschrieben. Nach heutigem Kenntnisstand, der zunehmend aus großen NGS-Studien gespeist wird, spielen Letztere aber keine (wesentliche) Rolle. Mangels kausaler Therapieansätze beschränkt sich die augenärztliche Behandlung auf eine umfassende Rehabilitation mit vergrößernden Sehhilfen sowie die Versorgung mit Langstock und dem Training von lebenspraktischen Fähigkeiten.

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4

Marwood, M., K. Visser, L. A. Salamonsen, and E. Dimitriadis. "Interleukin-11 and Leukemia Inhibitory Factor Regulate the Adhesion of Endometrial Epithelial Cells: Implications in Fertility Regulation." Endocrinology 150, no. 6 (February 12, 2009): 2915–23. http://dx.doi.org/10.1210/en.2008-1538.

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Embryo implantation requires the closely harmonized processes of apposition, attachment, and adhesion of the conceptus to the maternal endometrial epithelium. IL-11 and leukemia inhibitory factor (LIF), two IL-6 family cytokines, are produced by the endometrium and are absolutely required for implantation in mice. We examined the effect of IL-11 and LIF on human endometrial epithelial cell adhesion. Both cytokines increased adhesion of primary human endometrial epithelial cells to fibronectin and collagen IV. IL-11 stimulated, whereas LIF had no effect on the adhesion of trophoblast to endometrial epithelial cells. Focused oligogene arrays were used to identify extracellular matrix and adhesion molecules mRNAs regulated by endometrial epithelial cells. We demonstrated by real-time RT-PCR and antibody arrays that both cytokines increased integrin-α2 mRNA and protein by endometrial epithelial cells. Signal transducers and activators of transcription (STAT)-3 inhibition reduced IL-11- and LIF-mediated epithelial cell adhesion to fibronectin, suggesting both cytokines regulated adhesion via phosphorylation of STAT3. Addition of either IL-11 neutralizing antibody and IL-11 or LIF and LIF antagonist to endometrial epithelial cells abolished cytokine induced phosphorylated STAT3. LIF but not IL-11 induced adhesion to collagen IV was reduced by an integrin-α2β1 neutralizing antibody. This study demonstrated that IL-11 and LIF regulated endometrial epithelial cell adhesion, suggesting that targeting IL-11 and LIF may be useful in regulating fertility by either enhancing or blocking implantation.

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5

Keogh, Michael J., Wei Wei, Juvid Aryaman, Ian Wilson, Kevin Talbot, Martin R. Turner, Chris-Anne McKenzie, et al. "Oligogenic genetic variation of neurodegenerative disease genes in 980 postmortem human brains." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 8 (January 13, 2018): 813–16. http://dx.doi.org/10.1136/jnnp-2017-317234.

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BackgroundSeveral studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series.MethodsWe analysed 980 neuropathologically characterised human brains with Alzheimer’s disease (AD), Parkinson’s disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls. Genetic variants were assessed using the American College of Medical Genetics criteria for pathogenicity. Individuals with two or more variants within a relevant disease gene panel were defined as ‘oligogenic’.ResultsThe majority of oligogenic variant combinations consisted of a highly penetrant allele or known risk factor in combination with another rare but likely benign allele. The presence of oligogenic variants did not influence the age of onset or disease severity. After controlling for the single known major risk allele, the frequency of oligogenic variants was no different between cases and controls.ConclusionsA priori, individuals with AD, PD-DLB and FTD-ALS are more likely to harbour a known genetic risk factor, and it is the burden of these variants in combination with rare benign alleles that is likely to be responsible for some oligogenic associations. Controlling for this bias is essential in studies investigating a potential role for oligogenic variation in neurodegenerative diseases.

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Longo, Luca, Gian Paolo Tonini, Isabella Ceccherini, and Patrizia Perri. "Oligogenic inheritance in neuroblastoma." Cancer Letters 228, no. 1-2 (October 2005): 65–69. http://dx.doi.org/10.1016/j.canlet.2004.12.052.

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7

ZHANG, W., A. COLLINS, G. R. ABECASIS, L. R. CARDON, and N. E. MORTON. "Mapping quantitative effects of oligogenes by allelic association." Annals of Human Genetics 66, no. 3 (May 2002): 211–21. http://dx.doi.org/10.1046/j.1469-1809.2002.00111.x.

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8

Kousi, M., and N. Katsanis. "Genetic Modifiers and Oligogenic Inheritance." Cold Spring Harbor Perspectives in Medicine 5, no. 6 (June 1, 2015): a017145. http://dx.doi.org/10.1101/cshperspect.a017145.

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9

Kuuluvainen, Liina, Karri Kaivola, Saana Mönkäre, Hannu Laaksovirta, Manu Jokela, Bjarne Udd, Miko Valori, et al. "Oligogenic basis of sporadic ALS." Neurology Genetics 5, no. 3 (April 23, 2019): e335. http://dx.doi.org/10.1212/nxg.0000000000000335.

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ObjectiveTo characterize the clinical and neuropathologic features of patients with amyotrophic lateral sclerosis (ALS) with the superoxide dismutase 1 (SOD1) p.Ala90Val mutation, as well as the mutation frequency and the role of oligogenic mechanisms in disease penetrance.MethodsAn index patient with autopsy-proven ALS was discovered to have the SOD1 p.Ala90Val mutation, which was screened in 2 Finnish ALS cohorts (n = 453). Additional contributing variants were analyzed from whole-genome or whole-exome sequencing data.ResultsSeven screened patients (1.5%) were found to carry the SOD1 heterozygous mutation. Allele-sharing analysis suggested a common founder haplotype. Common clinical features included limb-onset, long disease course, and sensory symptoms. No TDP43 pathology was observed. All cases were apparently sporadic, and pedigree analysis demonstrated that the mutation has reduced penetrance. Analysis of other contributing genes revealed a unique set of additional variants in each patient. These included previously described rare ANG and SPG11 mutations. One patient was compound heterozygous for SOD1 p.Ala90Val and p.Asp91Ala.ConclusionsOur data suggest that the penetrance of SOD1 p.Ala90Val is modulated by other genes and indicates highly individual oligogenic basis of apparently sporadic ALS. Additional genetic variants likely contributing to disease penetrance were very heterogeneous, even among Finnish patients carrying the SOD1 founder mutation.

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10

Bell, G. "The Oligogenic View of Adaptation." Cold Spring Harbor Symposia on Quantitative Biology 74 (January 1, 2009): 139–44. http://dx.doi.org/10.1101/sqb.2009.74.003.

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11

Agarwal, Sarita, and Nikhil Moorchung. "Modifier Genes and Oligogenic Disease." Journal of Nippon Medical School 72, no. 6 (2005): 326–34. http://dx.doi.org/10.1272/jnms.72.326.

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12

O'Connell, Jeffrey R., Sean Davis, and Daniel E. Weeks. "Analysis of complex oligogenic disease." Genetic Epidemiology 14, no. 6 (1997): 861–66. http://dx.doi.org/10.1002/(sici)1098-2272(1997)14:6<861::aid-gepi50>3.0.co;2-k.

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13

Salava, J., J. Polák, and B. Krška. "Oligogenic Inheritance of Resistance to Plum Pox Virus in Apricots." Czech Journal of Genetics and Plant Breeding 41, No. 4 (November 21, 2011): 167–70. http://dx.doi.org/10.17221/3663-cjgpb.

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In order to determine the inheritance of resistance to PPV in apricot three crosses between resistant and susceptible cultivars and selections were performed. The B<sub>1</sub> seedlings were inoculated with the PPV-M strain by an infected bud. PPV infection was evaluated over 5 consecutive growth periods through visual symptoms, ELISA and in some cases reverse transcriptase PCR assays. Chi-square analysis of each B<sub>1</sub> progeny was performed to determine if the segregation ratio differed from the expected ratio. PPV resistance segregated in three apricot B<sub>1</sub>progenies in a 1:7 (resistant:susceptible) ratio, indicating that resistance was controlled by three independent dominant complementary genes. All three dominant genes are needed for the resistance to be expressed, and the lack of any one of the dominant alleles will result in susceptibility. This knowledge will help us in effective planning of apricot breeding programs with this subjective.

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14

Gioeva, Olesya A., Natalya A. Zubkova, Yulia V. Tikhonovich, Vasiliy M. Petrov, Evgeniy V. Vasilyev, Alexey V. Kiyaev, Lyudmila G. Chernich, Olga Y. Pollyak, Albina R. Yusupova, and Anatoly N. Tiulpakov. "Clinical and molecular genetic characteristics of MODY cases with digenic and oligogenic inheritance as defined by targeted next-generation sequencing." Problems of Endocrinology 62, no. 6 (January 12, 2017): 20–27. http://dx.doi.org/10.14341/probl201662620-27.

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The diagnosis of MODY should be verified by molecular genetic analysis. Recently the introduction of next-generation sequencing, allowing simultaneous analysis of several candidate genes, greatly facilitates the diagnosis of monogenic diseases including MODY. In addition, the simultaneous analysis of several candidate genes allows to identify cases with digenic and oligogenic inheritance. In this work we present the first description of MODY cases with digenic and oligogenic inheritance in our country.Aim — to characterize MODY cases with digenic and oligogenic inheritance as defined by targeted next-generation sequencing.Material and methods. 256 subjects (age range, 0.3—25 yrs; males, n=149, females, n=107) were included in the study. The patients fulfilled the following MODY criteria: diabetes or intermediate hyperglycemia, absence of β-cell autoimmunity (ICA, GAD, IA2, IAA antibodies), preserved C-peptide secretion. Molecular genetic analysis was performed by next-generation sequencing using custom Ion Ampliseq gene panel and PGM semiconductor sequencer (Ion Torrent). All mutations were confirmed by Sanger sequencing.Results. 10 patients (8 probands, 1 sibling and 1 parent) showed digenic inheritance of MODY: 3 patients with combination of mutations in 2 candidate genes of MODY, 7 — in a candidate genes of MODY and another gene, associated with diabetes mellitus. In 1 case (sibling) showed oligogenic inheritance (mutations in GCK, HNF4A and INSR genes). Seven of the identified mutations were not previously described.Conclusion. Next-generation sequencing is useful in identifying of MODY cases with digenic and oligogenic inheritance, which is extremely important with potentially modifying effect on the phenotype.

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Jiang, Heng, Shulun Liang, Kai He, Jinghua Hu, Enjie Xu, Tao Lin, Yichen Meng, et al. "Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis." Journal of Medical Genetics 57, no. 6 (May 7, 2020): 405–13. http://dx.doi.org/10.1136/jmedgenet-2019-106411.

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BackgroundAdolescent idiopathic scoliosis (AIS) is a genetically heterogeneous disease characterised by three-dimensional deformity of the spine in the absence of a congenital spinal anomaly or neurological musculoskeletal disorder. The clinical variability and incomplete penetrance of some genes linked with AIS indicate that this disease constitutes an oligogenic trait.ObjectiveWe aimed to explore the oligogenic nature of this disease and identify novel AIS genes.MethodsWe analysed rare damaging variants within AIS-associated genes by using exome sequencing in 40 AIS trios and 183 sporadic patients.ResultsMultiple variants within AIS-associated genes were identified in eight AIS trios, and five individuals harboured rare damaging variants in the FLNB gene. The patients showed more frequent oligogenicity than the controls. In the gene-based burden test, the top signal resided in FLNB. In functional studies, we found that the AIS-associated FLNB variants altered the protein’s conformation and subcellular localisation and its interaction with other proteins (TTC26 and OFD1) involved in AIS. The most compelling evidence of an oligogenic basis was that the number of rare damaging variants was recognised as an independent prognostic factor for curve progression in Cox regression analysis.ConclusionOur data indicate that AIS is an oligogenic disease and identify FLNB as a susceptibility gene for AIS.

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16

Collins, A., S. Ennis, W. Tapper, and N. E. Morton. "Mapping oligogenes for atopy and asthma by meta-analysis." Genetics and Molecular Biology 23, no. 1 (March 2000): 1–10. http://dx.doi.org/10.1590/s1415-47572000000100001.

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Meta-analysis is presented for published studies on linkage or allelic association that have in common only reported significance levels. Reporting is biassed, and nonsignificance is seldom quantified. Therefore meta-analysis cannot identify oligogenes within a candidate region nor establish their significance, but it defines candidate regions well. Applied to a database on atopy and asthma, candidate regions are identified on chromosomes 6, 5, 16, 11, 12, 13, 14, 7, 20, and 10, in rank order from strongest to weakest evidence. On the other hand, there is little support for chromosomes 9, 8, 18, 1, and 15 in the same rank order. The evidence from 156 publications is reviewed for each region. With reasonable type I and II errors several thousand affected sib pairs would be required to detect a locus accounting for 1/10 of the genetic effect on asthma. Identification of regions by a genome scan for linkage and allelic association requires international collaborative studies to reach the necessary sample size, using lod-based methods that specify a weakly parametric alternative hypothesis and can be combined over studies that differ in ascertainment, phenotypes, and markers. This has become the central problem in complex inheritance.

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Hoefele, Julia, Matthias T. F. Wolf, John F. O’Toole, Edgar A. Otto, Ulla Schultheiss, Georges Dêschenes, Massimo Attanasio, Boris Utsch, Corinne Antignac, and Friedhelm Hildebrandt. "Evidence of Oligogenic Inheritance in Nephronophthisis." Journal of the American Society of Nephrology 18, no. 10 (September 12, 2007): 2789–95. http://dx.doi.org/10.1681/asn.2007020243.

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18

Brunzell, John D. "Familial combined hyperlipidemia: an oligogenic disorder." Clínica e Investigación en Arteriosclerosis 22 (December 2010): 25–26. http://dx.doi.org/10.1016/s0214-9168(10)70031-0.

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Monasky, Michelle M., Emanuele Micaglio, Giuseppe Ciconte, and Carlo Pappone. "Brugada Syndrome: Oligogenic or Mendelian Disease?" International Journal of Molecular Sciences 21, no. 5 (March 1, 2020): 1687. http://dx.doi.org/10.3390/ijms21051687.

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Brugada syndrome (BrS) is diagnosed by a coved-type ST-segment elevation in the right precordial leads on the electrocardiogram (ECG), and it is associated with an increased risk of sudden cardiac death (SCD) compared to the general population. Although BrS is considered a genetic disease, its molecular mechanism remains elusive in about 70–85% of clinically-confirmed cases. Variants occurring in at least 26 different genes have been previously considered causative, although the causative effect of all but the SCN5A gene has been recently challenged, due to the lack of systematic, evidence-based evaluations, such as a variant’s frequency among the general population, family segregation analyses, and functional studies. Also, variants within a particular gene can be associated with an array of different phenotypes, even within the same family, preventing a clear genotype–phenotype correlation. Moreover, an emerging concept is that a single mutation may not be enough to cause the BrS phenotype, due to the increasing number of common variants now thought to be clinically relevant. Thus, not only the complete list of genes causative of the BrS phenotype remains to be determined, but also the interplay between rare and common multiple variants. This is particularly true for some common polymorphisms whose roles have been recently re-evaluated by outstanding works, including considering for the first time ever a polygenic risk score derived from the heterozygous state for both common and rare variants. The more common a certain variant is, the less impact this variant might have on heart function. We are aware that further studies are warranted to validate a polygenic risk score, because there is no mutated gene that connects all, or even a majority, of BrS cases. For the same reason, it is currently impossible to create animal and cell line genetic models that represent all BrS cases, which would enable the expansion of studies of this syndrome. Thus, the best model at this point is the human patient population. Further studies should first aim to uncover genetic variants within individuals, as well as to collect family segregation data to identify potential genetic causes of BrS.

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20

Tada, Hayato, Atsushi Nohara, and Masa-aki Kawashiri. "Monogenic, polygenic, and oligogenic familial hypercholesterolemia." Current Opinion in Lipidology 30, no. 4 (August 2019): 300–306. http://dx.doi.org/10.1097/mol.0000000000000609.

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21

Yamaguchi, Takeshi, Akie Nakamura, Kanako Nakayama, Nozomi Hishimura, Shuntaro Morikawa, Katsura Ishizu, and Toshihiro Tajima. "Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening." Journal of Clinical Endocrinology & Metabolism 105, no. 8 (May 27, 2020): e2825-e2833. http://dx.doi.org/10.1210/clinem/dgaa308.

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Abstract Purpose Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder; however, its molecular etiology remains poorly understood. Methods We performed genetic analysis of 24 causative genes using next-generation sequencing in 167 CH cases, comprising 57 dyshormonogenesis (DH), 32 dysgenesis (TD) and 78 undiagnosed. The pathogenicity of variants was assessed by the American College of Medical Genetics guidelines, inheritance pattern, and published evidence. Furthermore, we compared the oligogenic groups and monogenic groups to examine the correlation between variant dosage and severity. Results We identified variants in 66.5% cases (111/167) and 15 genes, DUOX2, TSHR, PAX8, TG, TPO, DUOXA2, JAG1, GLIS3, DUOX1, IYD, SLC26A4, SLC5A5, SECISBP2, DIO1, and DIO3. Biallelic variants were identified in 12.6% (21/167), oligogenic in 18.0% (30/167), and monogenic in 35.9% (60/167); however, 68.5% of variants were classified as variant of unknown significance (VUS). Further examinations showed that 3 out of 32 cases with TD (9.4%) had pathogenic variants (2 of TSHR and 1 of TPO), and 8 out of 57 cases with DH (14.0%) (7 of DUOX2, 1 of TG) had pathogenic variants. In addition, TSH levels at the first visit were significantly higher in the oligogenic group than in the monogenic group. Conclusions The detection rate of pathogenic variants in Japanese CH was similar to that previously reported. Moreover, oligogenic cases were likely to be more severe than monogenic cases, suggesting that CH may exhibit a gene dosage effect. Further analysis of VUS pathogenicity is required to clarify the molecular basis of CH.

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Renaux, Alexandre, Sofia Papadimitriou, Nassim Versbraegen, Charlotte Nachtegael, Simon Boutry, Ann Nowé, Guillaume Smits, and Tom Lenaerts. "ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations." Nucleic Acids Research 47, W1 (May 31, 2019): W93—W98. http://dx.doi.org/10.1093/nar/gkz437.

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Abstract A tremendous amount of DNA sequencing data is being produced around the world with the ambition to capture in more detail the mechanisms underlying human diseases. While numerous bioinformatics tools exist that allow the discovery of causal variants in Mendelian diseases, little to no support is provided to do the same for variant combinations, an essential task for the discovery of the causes of oligogenic diseases. ORVAL (the Oligogenic Resource for Variant AnaLysis), which is presented here, provides an answer to this problem by focusing on generating networks of candidate pathogenic variant combinations in gene pairs, as opposed to isolated variants in unique genes. This online platform integrates innovative machine learning methods for combinatorial variant pathogenicity prediction with visualization techniques, offering several interactive and exploratory tools, such as pathogenic gene and protein interaction networks, a ranking of pathogenic gene pairs, as well as visual mappings of the cellular location and pathway information. ORVAL is the first web-based exploration platform dedicated to identifying networks of candidate pathogenic variant combinations with the sole ambition to help in uncovering oligogenic causes for patients that cannot rely on the classical disease analysis tools. ORVAL is available at https://orval.ibsquare.be.

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23

Li, Lili, Matthew Neil Bainbridge, Yanli Tan, James T. Willerson, and Ali J. Marian. "A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy." Circulation Research 120, no. 7 (March 31, 2017): 1084–90. http://dx.doi.org/10.1161/circresaha.116.310559.

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de Filippis, Tiziana, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, et al. "A frequent oligogenic involvement in congenital hypothyroidism." Human Molecular Genetics 26, no. 13 (April 21, 2017): 2507–14. http://dx.doi.org/10.1093/hmg/ddx145.

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25

Tang, H. K. "Mapping quantitative trait loci in oligogenic models." Biostatistics 2, no. 2 (June 1, 2001): 147–62. http://dx.doi.org/10.1093/biostatistics/2.2.147.

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26

Katsanis, N. "The oligogenic properties of Bardet-Biedl syndrome." Human Molecular Genetics 13, no. 90001 (January 13, 2004): 65R—71. http://dx.doi.org/10.1093/hmg/ddh092.

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27

Blangero, John, and Laura Almasy. "Multipoint oligogenic linkage analysis of quantitative traits." Genetic Epidemiology 14, no. 6 (1997): 959–64. http://dx.doi.org/10.1002/(sici)1098-2272(1997)14:6<959::aid-gepi66>3.0.co;2-k.

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28

Moldin, Steven O., and Paul Van Eerdewegh. "Multivariate genetic analysis of an oligogenic disease." Genetic Epidemiology 12, no. 6 (1995): 801–6. http://dx.doi.org/10.1002/gepi.1370120645.

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29

Lio, P., and N. E. Morton. "Comparison of parametric and nonparametric methods to map oligogenes by linkage." Proceedings of the National Academy of Sciences 94, no. 10 (May 13, 1997): 5344–48. http://dx.doi.org/10.1073/pnas.94.10.5344.

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30

Sykiotis, G. P., L. Plummer, V. A. Hughes, M. Au, S. Durrani, S. Nayak-Young, A. A. Dwyer, et al. "Oligogenic basis of isolated gonadotropin-releasing hormone deficiency." Proceedings of the National Academy of Sciences 107, no. 34 (August 9, 2010): 15140–44. http://dx.doi.org/10.1073/pnas.1009622107.

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Badano, Jose L., Carmen C. Leitch, Stephen J. Ansley, Helen May-Simera, Shaneka Lawson, Richard Alan Lewis, Philip L. Beales, Harry C. Dietz, Shannon Fisher, and Nicholas Katsanis. "Dissection of epistasis in oligogenic Bardet–Biedl syndrome." Nature 439, no. 7074 (December 4, 2005): 326–30. http://dx.doi.org/10.1038/nature04370.

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Baulina, N. M., I. S. Kiselev, O. S. Chumakova, and O. O. Favorova. "Hypertrophic Cardiomyopathy as an Oligogenic Disease: Transcriptomic Arguments." Molecular Biology 54, no. 6 (November 2020): 840–50. http://dx.doi.org/10.1134/s0026893320060023.

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McGarry, D., D. Jhaveri, R. Hostoffer, and H. Tcheurekdjian. "OLIGOGENIC HETEROZYGOUS MUTATIONS MANIFESTING AS COMBINED PRIMARY IMMUNODEFICIENCY." Annals of Allergy, Asthma & Immunology 121, no. 5 (November 2018): S100. http://dx.doi.org/10.1016/j.anai.2018.09.327.

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King, Alistair L., and Paul J. Ciclitira. "Celiac Disease: Strongly Heritable, Oligogenic, but Genetically Complex." Molecular Genetics and Metabolism 71, no. 1-2 (September 2000): 70–75. http://dx.doi.org/10.1006/mgme.2000.3067.

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Williams, Jeff T., Karl E. North, Lisa J. Martin, Anthony G. Comuzzie, Harald H. H. Göring, and John Blangero. "Distribution of lod Scores in Oligogenic Linkage Analysis." Genetic Epidemiology 21, S1 (2001): S805—S810. http://dx.doi.org/10.1002/gepi.2001.21.s1.s805.

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Maione, Luigi, Andrew A. Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jérôme Bouligand, and Jacques Young. "GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing." European Journal of Endocrinology 178, no. 3 (March 2018): R55—R80. http://dx.doi.org/10.1530/eje-17-0749.

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Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients’ offspring. Importantly, patients and their families should be informed of this risk and given genetic counseling. CHH and KS are phenotypically and genetically heterogeneous diseases in which the risk of transmission largely depends on the gene(s) responsible(s). Inheritance may be classically Mendelian yet more complex; oligogenic modes of transmission have also been described. The prevalence of oligogenicity has risen dramatically since the advent of massively parallel next-generation sequencing (NGS) in which tens, hundreds or thousands of genes are sequenced at the same time. NGS is medically and economically more efficient and more rapid than traditional Sanger sequencing and is increasingly being used in medical practice. Thus, it seems plausible that oligogenic forms of CHH/KS will be increasingly identified making genetic counseling even more complex. In this context, the main challenge will be to differentiate true oligogenism from situations when several rare variants that do not have a clear phenotypic effect are identified by chance. This review aims to summarize the genetics of CHH/KS and to discuss the challenges of oligogenic transmission and also its role in incomplete penetrance and variable expressivity in a perspective of genetic counseling.

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Standing, Ariane SI, Ying Hong, Coro Paisan-Ruiz, Ebun Omoyinmi, Alan Medlar, Horia Stanescu, Robert Kleta, et al. "TRAP1 chaperone protein mutations and autoinflammation." Life Science Alliance 3, no. 2 (December 27, 2019): e201900376. http://dx.doi.org/10.26508/lsa.201900376.

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We identified a consanguineous kindred, of three affected children with severe autoinflammation, resulting in the death of one sibling and allogeneic stem cell transplantation in the other two. All three were homozygous for MEFV p.S208C mutation; however, their phenotype was more severe than previously reported, prompting consideration of an oligogenic autoinflammation model. Further genetic studies revealed homozygous mutations in TRAP1, encoding the mitochondrial/ER resident chaperone protein tumour necrosis factor receptor associated protein 1 (TRAP1). Identification of a fourth, unrelated patient with autoinflammation and compound heterozygous mutation of TRAP1 alone facilitated further functional studies, confirming the importance of this protein as a chaperone of misfolded proteins with loss of function, which may contribute to autoinflammation. Impaired TRAP1 function leads to cellular stress and elevated levels of serum IL-18. This study emphasizes the importance of considering digenic or oligogenic models of disease in particularly severe phenotypes and suggests that autoinflammatory disease might be enhanced by bi-allelic mutations in TRAP1.

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Stefanski, Arthur, Eduardo Pérez-Palma, Marko Mrdjen, Megan McHugh, Costin Leu, and Dennis Lal. "Identification and quantification of oligogenic loss-of-function disorders." Genetics in Medicine 24, no. 3 (March 2022): 729–35. http://dx.doi.org/10.1016/j.gim.2021.10.026.

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van Blitterswijk, Marka, Michael A. van Es, Eric A. M. Hennekam, Dennis Dooijes, Wouter van Rheenen, Jelena Medic, Pierre R. Bourque, et al. "Evidence for an oligogenic basis of amyotrophic lateral sclerosis." Human Molecular Genetics 21, no. 17 (May 29, 2012): 3776–84. http://dx.doi.org/10.1093/hmg/dds199.

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Camats, Núria, Christa E. Flück, and Laura Audí. "Oligogenic Origin of Differences of Sex Development in Humans." International Journal of Molecular Sciences 21, no. 5 (March 6, 2020): 1809. http://dx.doi.org/10.3390/ijms21051809.

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Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorders/differences of sex development (DSD), but the broad spectrum of phenotypes in numerous DSD individuals remains a conundrum. Currently, the genetic cause of less than 50% of DSD individuals has been solved and oligogenic disease has been proposed. In recent years, multiple genetic hits have been found in individuals with DSD thanks to high throughput sequencing. Our group has been searching for additional genetic hits explaining the phenotypic variability over the past years in two cohorts of patients: 46,XY DSD patients carriers of NR5A1 variants and 46,XY DSD and 46,XX DSD with MAMLD1 variants. In both cohorts, our results suggest that the broad phenotypes may be explained by oligogenic origin, in which multiple hits may contribute to a DSD phenotype, unique to each individual. A search for an underlying network of the identified genes also revealed that a considerable number of these genes showed interactions, suggesting that genetic variations in these genes may affect sex development in concert.

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Tada, Hayato, Masa-aki Kawashiri, Akihiro Nomura, Ryota Teramoto, Kazuyoshi Hosomichi, Atsushi Nohara, Akihiro Inazu, Hiroshi Mabuchi, Atsushi Tajima, and Masakazu Yamagishi. "Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease." Journal of Clinical Lipidology 12, no. 6 (November 2018): 1436–44. http://dx.doi.org/10.1016/j.jacl.2018.08.006.

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Rogus, John J., and Jonathan L. Haines. "Evaluation of screening strategies to detect an oligogenic disease." Genetic Epidemiology 12, no. 6 (1995): 665–69. http://dx.doi.org/10.1002/gepi.1370120624.

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Smith, Judith M. "OLIGOGET-a computerized database system for controlling oligonucleotide production." Bioinformatics 9, no. 4 (1993): 479–80. http://dx.doi.org/10.1093/bioinformatics/9.4.479.

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Gentile, Giulia, Benedetta Perrone, Giovanna Morello, Isabella Laura Simone, Sebastiano Andò, Sebastiano Cavallaro, and Francesca Luisa Conforti. "Individual Oligogenic Background in p.D91A-SOD1 Amyotrophic Lateral Sclerosis Patients." Genes 12, no. 12 (November 23, 2021): 1843. http://dx.doi.org/10.3390/genes12121843.

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The p.D91A is one of the most common ALS-causing SOD1 mutations and is known to be either recessive or dominant. The homozygous phenotype is characterized by prolonged survival and slow progression of disease, whereas the affected heterozygous phenotypes can vary. To date, no genetic protective factors located close to SOD1 have been associated with the mild progressive homozygous phenotype. Using Next Generation Sequencing (NGS), we characterized a small cohort of sporadic and familial p.D91A-SOD1 heterozygous (n = 2) or homozygous (n = 5) ALS patients, to reveal any additional contributing variant in 39 ALS-related genes. We detected unique sets of non-synonymous variants, four of which were of uncertain significance and several in untranslated regions of ALS-related genes. Our results supported an individual oligogenic background underlying both sporadic and familial p.D91A cases irrespective of their p.D91A mutant alleles. We suggest that a comprehensive genomic view of p.D91A-SOD1 ALS patients may be useful in identifying emerging variants and improving disease diagnosis as well as guiding precision medicine.

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Ihara, N., T. Watanabe, Y. Sato, T. Itoh, T. Suzuki, and Y. Sugimoto. "Oligogenic transmission of abnormal teat patterning phenotype (ATPP) in cattle." Animal Genetics 38, no. 1 (February 2007): 15–19. http://dx.doi.org/10.1111/j.1365-2052.2006.01544.x.

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Schaaf, C. P., A. Sabo, Y. Sakai, J. Crosby, D. Muzny, A. Hawes, L. Lewis, et al. "Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders." Human Molecular Genetics 20, no. 17 (May 30, 2011): 3366–75. http://dx.doi.org/10.1093/hmg/ddr243.

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Danesh, Dariush. "Genetic Dissection of Oligogenic Resistance to Bacterial Wilt in Tomato." Molecular Plant-Microbe Interactions 7, no. 4 (1994): 464. http://dx.doi.org/10.1094/mpmi-7-0464.

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Zhang, Hang, Wanshi Cai, Siyu Chen, Jialong Liang, Zhanjun Wang, Yuting Ren, Wenxiu Liu, Xiaolan Zhang, Zhongsheng Sun, and Xusheng Huang. "Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients." Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 19, no. 5-6 (February 7, 2018): 419–25. http://dx.doi.org/10.1080/21678421.2018.1432659.

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Gadau, Jürgen, Pia J. Gertsch, Jürgen Heinze, Pekka Pamilo, and Bert Hölldobler. "Oligogyny by unrelated queens in the carpenter ant, Camponotus ligniperdus." Behavioral Ecology and Sociobiology 44, no. 1 (October 19, 1998): 23–33. http://dx.doi.org/10.1007/s002650050511.

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Young, N. D., D. Danesh, D. Menancio-Hautea, and L. Kumar. "Mapping oligogenic resistance to powdery mildew in mungbean with RFLPs." Theoretical and Applied Genetics 87, no. 1-2 (October 1993): 243–49. http://dx.doi.org/10.1007/bf00223772.

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