title: Genetic factors affecting susceptibility to alcoholic liver disease in an Indian population.
abstract: 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.
authors.affiliation: Department of Biochemistry, Institute of Postgraduate Medical Education and Research, 244 AJC Bose Road, Kolkata-700020, West Bengal, India.
authors.forename: Atanu Kumar
authors.initials: AK
authors.lastname: Dutta
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India / Q000453:epidemiology; D008049:Lipase / Q000235:genetics*; D008104:Liver Cirrhosis, Alcoholic / Q000453:epidemiology / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010641:Phenotype; D012307:Risk Factors; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent
chemical_list: D008049:Lipase; D008565:Membrane Proteins; C533682:PNPLA3 protein, human; D000217:Acyltransferases; D054512:Phospholipases A2, Calcium-Independent