Academic Journal

Genetic interactions affecting human gene expression identified by variance association mapping

التفاصيل البيبلوغرافية
العنوان: Genetic interactions affecting human gene expression identified by variance association mapping
المؤلفون: Brown AA, Buil A, Vinuela A, Lappalainen T, Zheng H-F, Richards JB, Small KS, Spector TD, Dermitzakis ET, Durbin R
المصدر: eLife, 25 April 2014
بيانات النشر: eLife Sciences Publications Ltd
سنة النشر: 2014
المجموعة: Newcastle University Library ePrints Service
الوصف: Non-additive interaction between genetic variants, or epistasis, is a possible explanation for the gap between heritability of complex traits and the variation explained by identified genetic loci. Interactions give rise to genotype dependent variance, and therefore the identification of variance quantitative trait loci can be an intermediate step to discover both epistasis and gene by environment effects (GxE). Using RNA-sequence data from lymphoblastoid cell lines (LCLs) from the TwinsUK cohort, we identify a candidate set of 508 variance associated SNPs. Exploiting the twin design we show that GxE plays a role in-70% of these associations. Further investigation of these loci reveals 57 epistatic interactions that replicated in a smaller dataset, explaining on average 4.3% of phenotypic variance. In 24 cases, more variance is explained by the interaction than their additive contributions. Using molecular phenotypes in this way may provide a route to uncovering genetic interactions underlying more complex traits.
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: unknown
Relation: https://eprints.ncl.ac.uk/267514; https://eprints.ncl.ac.uk/fulltext.aspx?url=267514/31B4396B-66E8-4D35-AB7F-6E1DFF500011.pdf&pub_id=267514
الاتاحة: https://eprints.ncl.ac.uk/267514
Rights: https://creativecommons.org/licenses/by/4.0/
رقم الانضمام: edsbas.535014CF
قاعدة البيانات: BASE