Annals of Hepatology · 2013 · 36 citations · 18 references
Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsAlcohol Use DisorderAlcohol-related Liver ToxicityCirrhosisGenetic SusceptibilityLiver DiseaseAlcohol-related HepatotoxicityAlcohol-related Liver InjuryAlcoholic Liver Disease ProgressionGenetic Liver DiseaseHepatic Effects Of Alcohol
INTRODUCTION. Indians are more likely to develop alcoholic cirrhosis compared to Caucasians, though the cause remains obscure. North Indians tend to consume more alcohol than other parts of the country. Genetic factors are likely to play a major role in these observations. This study investigated whether 10 different polymorphisms were associated with alcohol dependence and/or cirrhosis in North Indians. These were in ADH2*2 (rs1229984), ADH3*2 (rs698), CYP2E1*1D, CYP2E1*5 (rs3813867 and rs2031920), TNF-α(rs1800629), TNF-α (rs361525), IL-1β (rs3087258), CD-14 (rs2569190), IL-10 (rs1800872) and PNPLA3 (rs738409). MATERIAL AND METHODS. Hundred healthy controls and 120 chronic alcoholics (60 alcoholic noncirrhotics and 60 alcoholic cirrhotics) attending various departments of PGIMER, Chandigarh were genotyped using PCR-RFLP methods. RESULTS. Alcoholic cirrhotics compared to healthy individuals demonstrated a statistically significant increase in PNPLA3 (10109G) allele (p = 0.037, OR = 2.12, 95% CI 1.29-3.4). Rest of the associations were not significant after correction for multiple testing. CONCLUSION. PNPLA3 10109G predisposed North Indian subjects to alcoholic cirrhosis.
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Zdenek Hrubec, Gilbert S. Omenn · Alcoholism Clinical and Experimental Research · 1981 · 464 citations
Life Sciences, Genetics, Psychiatry +12
Variant in PNPLA3 is associated with alcoholic liver disease
Chao Tian, Renee Stokowski, David Kershenobich et al. · Nature Genetics · 2009 · 433 citations
Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians
Felix Stickel, Stephan Buch, Katharina Lau et al. · Hepatology · 2010 · 285 citations · Full text