Clin Chem Lab Med. 2014 Dec;52(12):1867-73. doi: 10.1515/cclm-2014-0491.
The small conductance calcium-activated potassium, subfamily N, member 3 (KCNN3) gene rs13376333 and rs1131820 have been shown to be strongly associated with lone atrial fibrillation (AF), while replication association studies between rs13376333 in KCNN3 gene and risk of AF showed conflicting results. The current study tried to validate the impact of SNP rs13376333 and rs1131820 of KCNN3 gene on the risk of AF in the Chinese Han population.
A total of 889 AF patients and 1015 controls were enrolled. Two hundred and seventy-eight cases of AF were lone AF. KCNN3 gene SNP rs13376333 and rs1131820 were genotyped by allele-specific MALDI-TOF mass spectrometry.
The genotype distribution and allele frequency of rs13376333 polymorphism were not different between total AF patients and controls. However, the genotype distribution of rs13376333 polymorphism was significantly different between lone AF and control group (p<0.001); and T allele frequency was significantly higher in lone AF group than that in controls (7.6% vs 3.6%, p<0.001). Multivariable logistic regression analysis showed that T allele carriers of rs13376333 was significantly associated with lone AF (OR=2.31, 95% CI 1.41-3.78, p=0.001). No relationship between rs1131820 polymorphism and total AF or lone AF was found in this study.
KCNN3 rs13376333 polymorphism was associated with lone AF in the Chinese Han population and the T allele carriers may be an independent predictive factor for lone AF.
小电导钙激活钾通道,亚家族 N,成员 3(KCNN3)基因 rs13376333 和 rs1131820 已被证明与孤立性心房颤动(AF)密切相关,而 KCNN3 基因 rs13376333 与 AF 风险之间的复制关联研究结果存在矛盾。本研究试图验证 SNP rs13376333 和 KCNN3 基因 rs1131820 对中国汉族人群 AF 风险的影响。
共纳入 889 例 AF 患者和 1015 例对照。278 例 AF 为孤立性 AF。采用等位基因特异性 MALDI-TOF 质谱法对 KCNN3 基因 SNP rs13376333 和 rs1131820 进行基因分型。
总 AF 患者与对照组 rs13376333 多态性的基因型分布和等位基因频率无差异。然而,rs13376333 多态性的基因型分布在孤立性 AF 组与对照组之间存在显著差异(p<0.001);T 等位基因频率在孤立性 AF 组显著高于对照组(7.6%比 3.6%,p<0.001)。多变量 logistic 回归分析显示,rs13376333 的 T 等位基因携带者与孤立性 AF 显著相关(OR=2.31,95%CI 1.41-3.78,p=0.001)。本研究未发现 rs1131820 多态性与总 AF 或孤立性 AF 之间存在关系。
KCNN3 rs13376333 多态性与中国汉族人群孤立性 AF 相关,T 等位基因携带者可能是孤立性 AF 的独立预测因素。