Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, PR China.
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, PR China.
Infect Genet Evol. 2014 Dec;28:113-7. doi: 10.1016/j.meegid.2014.09.015. Epub 2014 Sep 17.
Single nucleotide polymorphisms (SNPs) in miRNA-machinery genes can influence their generation and maturation, then expression and structure. To explore the relationship between three SNPs (rs3757 in DGCR8, rs636832 in AGO1, rs7813 in GEMIN4) in miRNA-machinery genes and chronic hepatitis B, we genotyped the SNPs by high resolution melting method (HRM) in a case-control study of 332 unrelated chronic hepatitis B patients and 352 unrelated healthy controls in Western China. Interestingly, the rs636832 was significantly associated with the susceptibility of CHB (genotype: AA/GA/GG: p=0.010; allele: A/G: OR=0.727, 95% CI=0.575-0.920, p=0.008). The minor allele A of rs636832 was significantly associated with a decreased risk of CHB. Additionally, the dominant model AG+GG vs. AA showed a risk of 1.442-fold (p=0.018) with CHB. Further exploration for the association between rs636832 and HBV-DNA load in 329 cases showed no significant difference (genotype: p=0.321; allele: p=0.148). Neither did the association between rs636832 and the status of HBsAg and HbeAg (HBsAg: genotype p=0.337, allele p=0.436; HBeAg: genotype p=0.861, allele p=0.822). Our study first provided the evidence that rs636832 in AGO1 was associated with chronic HBV infection susceptibility in Chinese Han population. Further epidemiological and functional studies in larger populations are warranted to verify our results.
单核苷酸多态性(SNPs)在 miRNA 机器基因中可以影响它们的产生和成熟,然后影响它们的表达和结构。为了探讨 miRNA 机器基因中三个 SNPs(DGCR8 中的 rs3757、AGO1 中的 rs636832、GEMIN4 中的 rs7813)与慢性乙型肝炎之间的关系,我们采用高分辨率熔解曲线法(HRM)对中国西部 332 例无关慢性乙型肝炎患者和 352 例无关健康对照者进行了 SNP 基因分型。有趣的是,rs636832 与 CHB 的易感性显著相关(基因型:AA/GA/GG:p=0.010;等位基因:A/G:OR=0.727,95%CI=0.575-0.920,p=0.008)。rs636832 的次要等位基因 A 与 CHB 的发病风险降低显著相关。此外,AG+GG 与 AA 的显性模型显示 CHB 的发病风险为 1.442 倍(p=0.018)。进一步探讨 rs636832 与 329 例病例 HBV-DNA 载量之间的关系,发现基因型之间无显著差异(p=0.321;等位基因:p=0.148)。rs636832 与 HBsAg 和 HBeAg 状态之间也无关联(HBsAg:基因型 p=0.337,等位基因 p=0.436;HBeAg:基因型 p=0.861,等位基因 p=0.822)。本研究首次提供了证据表明,AGO1 中的 rs636832 与中国汉族人群慢性 HBV 感染易感性相关。需要在更大的人群中进行进一步的流行病学和功能研究来验证我们的结果。