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Sul, Jae Hoon; Service, Susan K.; Huang, Alden Y.; Ramensky, Vasily; Hwang, Sun-Goo; Teshiba, Terri M.; Park, YoungJun; Ori, Anil P. S.; Zhang, Zhongyang; Mullins, Niamh; Olde Loohuis, Loes M.; Fears, Scott C.; Araya, Carmen; Araya, Xinia; Spesny, Mitzi; Bejarano, Julio; Ramirez, Margarita; Castrillón, Gabriel; Gomez-Makhinson, Juliana; Lopez, Maria C.; Montoya, Gabriel; Montoya, Claudia P.; Aldana, Ileana; Escobar, Javier I.; [...]

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates

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  • Medientyp: E-Artikel
  • Titel: Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates
  • Beteiligte: Sul, Jae Hoon; Service, Susan K.; Huang, Alden Y.; Ramensky, Vasily; Hwang, Sun-Goo; Teshiba, Terri M.; Park, YoungJun; Ori, Anil P. S.; Zhang, Zhongyang; Mullins, Niamh; Olde Loohuis, Loes M.; Fears, Scott C.; Araya, Carmen; Araya, Xinia; Spesny, Mitzi; Bejarano, Julio; Ramirez, Margarita; Castrillón, Gabriel; Gomez-Makhinson, Juliana; Lopez, Maria C.; Montoya, Gabriel; Montoya, Claudia P.; Aldana, Ileana; Escobar, Javier I.; [...]
  • Erschienen: Springer Science and Business Media LLC, 2020
  • Erschienen in: Translational Psychiatry
  • Sprache: Englisch
  • DOI: 10.1038/s41398-020-0758-1
  • ISSN: 2158-3188
  • Schlagwörter: Biological Psychiatry ; Cellular and Molecular Neuroscience ; Psychiatry and Mental health
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP. In these pedigrees, we performed microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We compared polygenic risk scores (PRS), estimated using the latest BP1 genome-wide association study (GWAS) summary statistics, between BP1 individuals and related controls. We also evaluated whether BP1 individuals had a higher burden of rare deleterious single-nucleotide variants (SNVs) and rare copy number variants (CNVs) in a set of genes related to BP1. We found that compared with unaffected relatives, BP1 individuals had higher PRS estimated from BP1 GWAS statistics (<jats:italic>P</jats:italic> = 0.001 ~ 0.007) and displayed modest increase in burdens of rare deleterious SNVs (<jats:italic>P</jats:italic> = 0.047) and rare CNVs (<jats:italic>P</jats:italic> = 0.002 ~ 0.033) in genes related to BP1. We did not observe rare variants segregating in the pedigrees. These results suggest that small-to-moderate effect rare and common variants are more likely to contribute to BP1 risk in these extended pedigrees than a few large-effect rare variants.</jats:p>
  • Zugangsstatus: Freier Zugang