CAJ | 학술논문

目的研究GIRK4基因多态性与新疆南疆地区维吾尔族人群原发性高血压的相关性.方法采取病例对照研究方法,筛选1194名体重指数(body mass index,BMI)＞18.5 kg/m2的人群,按高血压诊断标准,将收缩压≥140 mmHg和(或)舒张压≥90 mmHg作为高血压组(482例),收缩压≤140 mmHg和(或)舒张压≤90 mmHg作为正常组(712人),其中男性461人,女性733人.提取两组血样的基因组DNA,PCR扩增GIRK4基因并测序.结果通过对GIRK4基因测序,在上述人群中发现171C/T(rs6590357)、5126A/G(rs4937391)、6262A/C(rs2604204)、-20559C/G(rs11221497)等4个多态位点,其基因型分布均符合Hard-Weinberg平衡(P＞0.05).连锁不平衡分析显示,rs11221497位点与rs4937391、rs2604204、rs6590357位点之间位点存在连锁不平衡(D'＜0.001),后3个位点之间连锁平衡(D'＞0.9)；rs6590357、rs4937391、rs2604204等3个位点的基因型在高血压组和对照组间的频率分布差异无统计学意义(P＞0.05)；rs11221497位点CC基因型平均收缩压[(132.69±26.9)mmHg)]高于CG基因型[(127.4±22.7)mmHg]及GG基因型[(121.1±26.3)mmHg]；CC基因型舒张压[(79.4±15.6)mmHg]也高于CG基因型[(77.1±14.1)mmHg]和GG基因型[(72.9±14.8)mmHg],其中CC型与GG型间平均收缩压及舒张压差异有统计学意义(P＜0.05)；基因频率分析显性模型显示rs11221497位点CC基因型在高血压组分布频率高于正常组,两组间比较差异有统计学意义[P＜0.05,OR=0.67(0,49～0.93)]；Logistic 回归分析显示,在校正吸烟、年龄、BMI后,rs11221497位点与新疆维吾尔族肥胖人群高血压相关.单倍型分析发现,H6单倍型(C-G-C-G)在正常组中分布明显高于高血压组,差异有统计学意义(P＜0.05),是其保护性因子.结论 GIRK4基因rs11221497位点可能和新疆维吾尔族肥胖人群高血压相关,等位基因G可能是其保护因素.
목적 연구GIRK4기인다태성여신강남강지구유오이족인군원발성고혈압적상관성.방법 채취병례대조연구방법,사선1194명체중지수(body mass index,BMI)＞18.5 kg/m2적인군,안고혈압진단표준,장수축압≥140 mmHg화(혹)서장압≥90 mmHg작위고혈압조(482례),수축압≤140 mmHg화(혹)서장압≤90 mmHg작위정상조(712인),기중남성461인,녀성733인.제취량조혈양적기인조DNA,PCR확증GIRK4기인병측서.결과 통과대GIRK4기인측서,재상술인군중발현171C/T(rs6590357)、5126A/G(rs4937391)、6262A/C(rs2604204)、-20559C/G(rs11221497)등4개다태위점,기기인형분포균부합Hard-Weinberg평형(P＞0.05).련쇄불평형분석현시,rs11221497위점여rs4937391、rs2604204、rs6590357위점지간위점존재련쇄불평형(D'＜0.001),후3개위점지간련쇄평형(D'＞0.9)；rs6590357、rs4937391、rs2604204등3개위점적기인형재고혈압조화대조조간적빈솔분포차이무통계학의의(P＞0.05)；rs11221497위점CC기인형평균수축압[(132.69±26.9)mmHg)]고우CG기인형[(127.4±22.7)mmHg]급GG기인형[(121.1±26.3)mmHg]；CC기인형서장압[(79.4±15.6)mmHg]야고우CG기인형[(77.1±14.1)mmHg]화GG기인형[(72.9±14.8)mmHg],기중CC형여GG형간평균수축압급서장압차이유통계학의의(P＜0.05)；기인빈솔분석현성모형현시rs11221497위점CC기인형재고혈압조분포빈솔고우정상조,량조간비교차이유통계학의의[P＜0.05,OR=0.67(0,49～0.93)]；Logistic 회귀분석현시,재교정흡연、년령、BMI후,rs11221497위점여신강유오이족비반인군고혈압상관.단배형분석발현,H6단배형(C-G-C-G)재정상조중분포명현고우고혈압조,차이유통계학의의(P＜0.05),시기보호성인자.결론 GIRK4기인rs11221497위점가능화신강유오이족비반인군고혈압상관,등위기인G가능시기보호인소.
Objective To assess the association of polymorphisms of G protein-coupled inwardlyrectifying potassium channels 4 (GIRK4)gene with essential hypertension in ethnic Uygurs from southern Xinjiang.Methods A total of 1194 (461 males and 733 females) Uygur residents aged 30 to 70 and with a body mass index (BMI) over 18.5 kg/m2 were selected from Hetian region.All of the subjects have received questionnaire survey,physical examination,biochemical analysis and blood pressure measurement.They were divided into hypertensive group and normotensive group.Genotyping by the TaqMan polymerase chain reaction method was performed for 4 common single nucleotide polymorphisms (rs4937391,rs2604204,rs6590357 and rs1122149),and a case-control study was carried out.Results Genotype distributions of rs4937391,rs2604204,rs6590357 and rs1122149 in both groups were in Hardy-Weinberg equilibrium (P＞0.05).The average systolic blood pressure of CC genotype of rs11221497 single nucleotide polymorphism (SNP) [(132.69±26.9) mmHg)] was higher than the CG genotype [(127.4±22.7) mmHg] and GG genotype [(121.1±26.3) mmHg].There has a significantly difference in average systolic and diastolic blood pressures between CC and GG genotypes (P＜0.05).A case-control association analysis revealed that the rs11221497 SNP was in association with essential hypertension with the dominant model [P＜0.05,OR=0.67 (0.49-0.93)].Haplotype analysis indicated that H6(C-G-C-G) was significantly more common in normotensive group than hypertensive group (P =0.001).Conclusion The rs11221497 SNP of the GIRK4 gene is associated with essential hypertension in ethnic Uygur population in Xinjiang.