Article
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.
Journal of gastroenterology and hepatology - 1 Mar 2024
Bale Govardhan, Kulkarni Anand V, Padaki Nagaraja Rao, Menon P Balachandran, Sharma Mithun, Iyengar Sowmya, Sekaran Anuradha, Pawar Smita C, Duvvur Nageshwar Reddy, Vishnubhotla Ravikanth
Abstract excerpt
BACKGROUND/PURPOSE: Genome-wide association studies have reported the association of common variants with nonalcoholic fatty liver disease in genes, namely, PNPLA3/TM6SF2/MBOAT7/HSD17B13, across ethnicities. However, the approach does not identify rarer variants with a higher effect size. We therefore sequenced the complete exonic regions of patients with nonalcoholic steatohepatitis and controls to compare rare...
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