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Genetic Susceptibility to Chronic Liver Disease in Individuals from Pakistan.

Journal article
Authors Asad Mehmood Raja
Ester Ciociola
Imran Nazir Ahmad
Faisal SAud Dar
Syed Muhammad Saqlan Naqvi
Muhammad Moaeen-Ud-Din
Ghazala Kaukab Raja
Stefano Romeo
Rosellina Margherita Mancina
Published in International journal of molecular sciences
Volume 21
Issue 10
Pages E3558
ISSN 1422-0067
Publication year 2020
Published at Institute of Medicine, Department of Molecular and Clinical Medicine
Pages E3558
Language en
Subject categories Cardiovascular medicine


Chronic liver disease, with viral or non-viral etiology, is endemic in many countries and is a growing burden in Asia. Among the Asian countries, Pakistan has the highest prevalence of chronic liver disease. Despite this, the genetic susceptibility to chronic liver disease in this country has not been investigated. We performed a comprehensive analysis of the most robustly associated common genetic variants influencing chronic liver disease in a cohort of individuals from Pakistan. A total of 587 subjects with chronic liver disease and 68 healthy control individuals were genotyped for the HSD17B13 rs7261356, MBOAT7 rs641738, GCKR rs1260326, PNPLA3 rs738409, TM6SF2 rs58542926 and PPP1R3B rs4841132 variants. The variants distribution between case and control group and their association with chronic liver disease were tested by chi-square and binary logistic analysis, respectively. We report for the first time that HSD17B13 variant results in a 50% reduced risk for chronic liver disease; while MBOAT7; GCKR and PNPLA3 variants increase this risk by more than 35% in Pakistani individuals. Our genetic analysis extends the protective role of the HSD17B13 variant against chronic liver disease and disease risk conferred by the MBOAT7; GCKR and PNPLA3 variants in the Pakistani population.

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