Common variants in AGR1 genes contributed to the risk and traits of cirrhotic cardiomyopathy in Han Chinese population.
Common variants in AGR1 genes contributed to the risk and traits of cirrhotic cardiomyopathy in Han Chinese population.
复制标题
AGR1基因的常见变异与中国汉族人群冠心病的发病风险和特征有关。
DOI：
10.2217/bmm-2021-0744
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发表时间：
2022-03
影响因子：
2.2
通讯作者：
Shanshan Yu;Lei Sun;Jue Jiang;Xin He;Qi Zhou
中科院分区：
文献类型：
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作者：
Shanshan Yu;Lei Sun;Jue Jiang;Xin He;Qi Zhou
目的：本研究旨在确定ARG1基因多态性与肝硬化心肌病（CCM）的风险和特征之间的关系。方法：纳入468例CCM和1012例肝硬化患者，对ARG1基因的12个单核苷酸多态性（snp）进行基因分型。CCM组和肝硬化组snp基因型、等位基因和单倍型频率的差异采用卡方检验分析。采用线性回归分析snp基因型与肝功能、心功能代表性性状的相关性。结果：snp rs2781666和rs2781667在显性和加性遗传模型中都与CCM风险相关。CCM组rs2781666的GG基因型频率和rs2781667的CC基因型频率均低于肝硬化组。由rs2781666和rs2781667组成的基因块G-C单倍型频率在CCM患者中高于肝硬化患者，T-T单倍型频率低于肝硬化患者。SNP rs2781666与丙氨酸转氨酶水平相关，rs2781667与ARG1水平和左房内径相关。结论：ARG1基因rs2781666和rs2781667 snp位点与汉族人群CCM的易感性和性状相关。
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.