Common variants in AGR1 genes contributed to the risk and traits of cirrhotic cardiomyopathy in the Han Chinese population

Aim: This study aimed to determine the association between polymorphisms of the ARG1 gene and the risk and traits of cirrhotic cardiomyopathy (CCM). Methods: A total of 468 CCM and 1012 cirrhosis patients were enrolled, and 12 single-nucleotide polymorphisms (SNPs) in the ARG1 gene were genotyped. Differences in genotype, allele and haplotype frequencies of the SNPs between the CCM and cirrhosis groups were analyzed by chi-square test. Correlations of the genotypes of SNPs and representative traits of liver and heart function were performed using linear regression analysis. Results: SNPs rs2781666 and rs2781667 were associated with the risk of CCM in both dominant and additive inheritance models. The GG genotype frequency of rs2781666 and CC genotype frequency of rs2781667 were lower in the CCM group than in the cirrhosis group. The G-C haplotype frequency of the block consisting of rs2781666 and rs2781667 was higher and the T-T haplotype frequency was lower in CCM patients than in cirrhosis patients. SNP rs2781666 was associated with the alanine transaminase level, and rs2781667 was associated with the ARG1 level and left atrial diameter. Conclusion: SNPs rs2781666 and rs2781667 in the ARG1 gene were associated with susceptibility to and traits of CCM in the Han Chinese population.