CAJ | 학술논문

目的探讨醛固酮合成酶(CVP11B2)基因的单核苷酸多态性与中国汉族人群非家族性心房颤动(房颤)的关系.方法采用1:1配对的病例对照研究方法,选择297例住院房颤患者作为病例组,同时期、同病房的297例非房颤患者作为对照组.应用GenomeLab~(TM) SNPstream基因分型系统,对CYP11B2基因的两个标签单核苷酸多态位点(tSNPs-rs4545、rs3802228)进行多态性检测.结果两位点多态性的分布均符合Hardy-Weinberg平衡.病例组患者左心房直径(LA)显著高于对照组(P<0.0001),两个tSNPs的基因型频率及等位基因频率分布在病例组和对照组的差异均无统计学意义,但在病例组3'端非编码区(3'UTR)的rs3802228位点中,具有GG基因型患者的LA显著高于其他型者.多元logistic回归模型在校正年龄、吸烟、BMI、高血压之后,未发现CYP11B2基因两位点基因多态性与房颤发病相关联.两个位点间也不存在连锁不平衡.结论 CYP11B2基因的rs4545tSNPs位点多态性可能与房颤无相关性,位于3'端非编码区的rs3802228tSNPs位点可能与心房结构重构有关.
목적 탐토철고동합성매(CVP11B2)기인적단핵감산다태성여중국한족인군비가족성심방전동(방전)적관계.방법 채용1:1배대적병례대조연구방법,선택297례주원방전환자작위병례조,동시기、동병방적297례비방전환자작위대조조.응용GenomeLab~(TM) SNPstream기인분형계통,대CYP11B2기인적량개표첨단핵감산다태위점(tSNPs-rs4545、rs3802228)진행다태성검측.결과 량위점다태성적분포균부합Hardy-Weinberg평형.병례조환자좌심방직경(LA)현저고우대조조(P<0.0001),량개tSNPs적기인형빈솔급등위기인빈솔분포재병례조화대조조적차이균무통계학의의,단재병례조3'단비편마구(3'UTR)적rs3802228위점중,구유GG기인형환자적LA현저고우기타형자.다원logistic회귀모형재교정년령、흡연、BMI、고혈압지후,미발현CYP11B2기인량위점기인다태성여방전발병상관련.량개위점간야불존재련쇄불평형.결론 CYP11B2기인적rs4545tSNPs위점다태성가능여방전무상관성,위우3'단비편마구적rs3802228tSNPs위점가능여심방결구중구유관.
Objective To investigate whether polymorphisms in CYP11B2 gene are associated with nonfamilial structural atrial fibrillation(AF) in Chinese Han population. Methods A free-designed pair-matched hospital based ease-control study was performed in 297 cases and 297 controls. We investigated two tagging single nucleotide polymorphisms (tSNPs)-rs4545, rs3802228 in CYP11B2 gene by using GenomeLab~(TM) SNPstream technique. Results Two tSNPs were consistent with Hardy-Weinberg expectations in case and control groups. Compared with controls, the left atrial diameter of cases was significantly higher(P<0.0001). No significant difference in genotype or allele frequencies of tSNPs in CYP11B2 gene was observed. However, at the site of rs3802228 in 3' UTR of the case group, the left atrial diameter in AF patients with GG genotype was significantly higher than others. After adjusted for covariates age, smoking, Body mass index and hypertension, we did not observe the association of rs4545, rs3802228 with AE Conclusion Our result suggested that polymorphisms of rs4545 in CYP11B2 gene might not be associated with atrial fibrillation but polymorphism of 3' UTR rs3802228 locus in CYP11B2 gone might be associated with atrial structural remodeling.