Wanqing Liu, Quentin M Anstee, Xiaoliang Wang, Samer Gawrieh, Eric R. Gamazon, Shaminie Athinarayanan, Yang-Lin Liu, Rebecca Darlay, Heather J Cordell, Ann K Daly, Chris P Day, Naga Chalasani
Abstract:The increased expression of PNPLA3148M leads to hepatosteatosis in mice. This study aims to investigate the genetic control of hepatic PNPLA3 transcription and to explore its impact on NAFLD risk in humans. Through a locus-wide expression quantitative trait loci (eQTL) mapping in two human liver sample sets, a PNPLA3 intronic SNP, rs139051 A>G was identified as a significant eQTL (p = 6.6×10−8) influencing PNPLA3 transcription, with the A allele significantly associated with increased PNPLA3 mRNA. An electroph…
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