Candidate Gene Association Study Of Alcoholic Liver Disease In Chinese Han Population

Objective:Alcoholic liver disease(ALD)is a chronic liver disease caused by a large number of alcohol consumption,and genetic factors play an important role in the pathogenesis of it.The result of genome-wide association study(GWAS)demonstrated that the PNPLA3,MBOAT7 and TM6SF2 genes were associated with ALD in European Caucasian population.Whether the single nucleotide polymorphisms(SNP)in these genes contribute to the development of ALD in Chinese Han population have not been identified.The aim of this study was to investigate the association between SNPs of this genes and ALD in Chinese Han population,which could help to prevent ALD and provide accurate therapeutic target for ALD.Methods:The PNPLA3 SNP rs738409,MBOAT7 SNPs(rs626283,rs641738)and TM6SF2 SNPs(rs10401969,rs58542926)were genotyped in a cohort of 507 ALD patients and 645 healthy controls,using the Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry(MALDI-TOF MS).The genotypes and alleles of the SNPs were analyzed with PLINK 1.07.Results:The rs738409 in PNPLA3 gene was significantly associated with ALD in the allele and genotype frequencies(P=1.25×10-14 and P=1.81×10-13).The frequencies of risk allele G and GG genotype of rs738409 were notably higher in ALD than that of controls.The genotype frequencies of three genetic models were also statistically significant(P = 1.07×10-13,P = 9.3×10-8 and P = 1.57×10-12).No statistically significant difference for the allele and genotype frequencies of rs62628,rs641738,rs10401969 and rs58542926 was found between ALD patients and healthy controls(P>0.05).Conclusion:In a word,PNPLA3 polymorphism rs738409 was associated with ALD patients in Chinese Han population,but rs626283,rs641738 in MBOAT7 and rs10401969、rs58542926 in TM6SF2 may be unrelated to ALD patients in Chinese Han population.