新疆维吾尔族和汉族KCNE1、KCNE4基因多态性与房颤的相关性研究

Association of KCNE1 and KCNE4 gene polymorphisms with atrial fibrillation among Uygur and Han Chinese populations in Xinjiang

目的探讨新疆维吾尔族和汉族KCNE1基因rs1805127、KCNE4基因rs12621643位点多态性与房颤的相关性。方法采用病例一对照研究，纳入房颤患者852例（其中维吾尔族409例，汉族443例）。按照与病例组民族和性别相同、年龄相同或相近的原则，以1：1比例选出对照。提取外周血DNA，应用聚合酶链反应一限制性片段长度多态性方法鉴定基因型。结果维吾尔族人群KCNEl（rs1805127）多态是患房颤的独立风险因素之一。汉族人群KCNE1（rs1805127）与房颤的患病无关。维吾尔族和汉族人群KCNE4（rs12621643）多态是房颤的独立风险因素。维吾尔族房颤阻塞性睡眠呼吸暂停综合征病史、肥胖、高血压、胆固醇、血同型半胱氨酸（homocysteine，Hcy）、超敏C反应蛋白（hypersensitive C-reactiveprotein，hs-CRP）、白细胞介素-6（interleukin-6，IL-6）、KCNE1（rs1805127）和KCNE4（rs12621643）的调整人群归因风险度（populationattributableriskpercentage，PARc）分别是9．68％、12．06％、15．76％、6．91％、11．37％、17．78％、9．31％、11．27％和6．46％。汉族房颤饮酒、高血压、胆固醇、Hcy、hs—CRP、IL-6和KCNE4（rs12621643）的PARc分别是12．94％、14．48％、7．24％、8．49％、17．29％、9．49％和7．41％。结论新疆维吾尔族、汉族KCNE1（rs1805127）与房颤的关系存在差异，维吾尔族人群KCNE1（rs1805127）与房颤相关。KCNE4（rsl2621643）与房颤的关系无民族差异。维吾尔族和汉族人群KCNE4（rs12621643）均是房颤患病的独立风险因素。在不同民族的人群中，根据“风险基因”选择重点人群进行可控风险因素的控制，对防治房颤具有一定作用。

Objective To assess the association of KCNE1 （rs1805127） and KCNE4 （rs12621643） polymorphisms with atrial fibrillation （AF） among ethnic Uygur and Han Chinese in Xinjiang. Methods A case-control study was carried out. The patients and controls were selected based on ethnicity, gender and age with an 1 ： 1 ratio. DNA was extracted from peripheral blood samples. Genotypes of KCNE1 （rs1805127） and KCNE4 （rs12621643） were determined with a polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） assay. Results Multivariate Logistic regression analysis showed KCNE1 （rs1805127） to be an independent risk factor for AF among Uygurs, while KCNE4 （rs12621643） was a risk factor for both Uygur and Han patients with AF （P 〈0.05）. The population attributable risk percentage （PARc%） of obstructive sleep apnea hpoventilation syndrome, obesity, hypertension, cholesterol, Hcy, hs-CRP, IL-6, KCNE1 （rs1805127） and KCNE4 （rs12621643） were 9.68%, 12.06%, 15.76%, 6.91%, 11.37M, 17.78%, 9.31%, 11.27% and 6.46% among the Uygurs, respectively. The PARe% of drinking, hypertension, cholesterol, Hcy, hs-CRP, IL-6, and KCNE4 （rs12621643） were 12. 94%, 14. 48%, 7. 24%, 8. 49%, 17. 29%, 9. 49% and 7. 41% among Hans. Conclusion The Kt.2NE1 （rs1805127） appears to an independent risk factor for AF in the Uygur population. And the KCNE4 （rs12621643） was an independent risk factor for AF among both Uygurs and Hans. Management of the risk factors of AF based on testing of ＂risk genes＂ may have an impact on the prevention and treatmem of AF.