中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
6期
716-720
,共5页
李南方%王红梅%毕云伟%周玲%姚晓光%严治涛%祖菲娅
李南方%王紅梅%畢雲偉%週玲%姚曉光%嚴治濤%祖菲婭
리남방%왕홍매%필운위%주령%요효광%엄치도%조비아
PRDM16基因%遗传多态性%维吾尔族%原发性高血压
PRDM16基因%遺傳多態性%維吾爾族%原髮性高血壓
PRDM16기인%유전다태성%유오이족%원발성고혈압
PRDM16 gene%Genetic polymorphism%Uygur population%Essential hypertension
目的 探讨PRDM16基因功能区变异与新疆维吾尔族人原发性高血压的相关性.方法 采用以流行病学调查为基础的病例-对照研究,在前期新疆和田地区流行病学调查建立的数据库中随机选取1299位维吾尔族人(包括480例高血压患者和819名对照)作为研究对象.首先在小样本(n=48)维吾尔族高血压患者中测序筛查PRDM16基因功能区的变异位点,并从中选取代表性变异位点应用TaqMan-PCR技术在大样本人群中进行基因型鉴定及病例-对照关联研究.结果 在PRDM16基因功能区共筛查出23个变异位点.选取的PRDM16基因的4个代表性变异位点(rs2236518、rs2282198、rs2493292及rs870171)的基因型及等位基因频率分布在高血压组与正常血压组中的差异均无统计学意义(P＞0.05).Logistic回归分析发现4个位点不是高血压病的危险因素(P＞0.05).rs2236518、rs2282198、rs2493292及rs870171不同基因型间收缩压、舒张压水平差异无统计学意义(P＞0.05).单倍型基因频率分布在高血压组与对照组中的差异无统计学意义(P＞0.05).结论 PRDM16基因变异可能与新疆维吾尔族原发性高血压不相关.
目的 探討PRDM16基因功能區變異與新疆維吾爾族人原髮性高血壓的相關性.方法 採用以流行病學調查為基礎的病例-對照研究,在前期新疆和田地區流行病學調查建立的數據庫中隨機選取1299位維吾爾族人(包括480例高血壓患者和819名對照)作為研究對象.首先在小樣本(n=48)維吾爾族高血壓患者中測序篩查PRDM16基因功能區的變異位點,併從中選取代錶性變異位點應用TaqMan-PCR技術在大樣本人群中進行基因型鑒定及病例-對照關聯研究.結果 在PRDM16基因功能區共篩查齣23箇變異位點.選取的PRDM16基因的4箇代錶性變異位點(rs2236518、rs2282198、rs2493292及rs870171)的基因型及等位基因頻率分佈在高血壓組與正常血壓組中的差異均無統計學意義(P＞0.05).Logistic迴歸分析髮現4箇位點不是高血壓病的危險因素(P＞0.05).rs2236518、rs2282198、rs2493292及rs870171不同基因型間收縮壓、舒張壓水平差異無統計學意義(P＞0.05).單倍型基因頻率分佈在高血壓組與對照組中的差異無統計學意義(P＞0.05).結論 PRDM16基因變異可能與新疆維吾爾族原髮性高血壓不相關.
목적 탐토PRDM16기인공능구변이여신강유오이족인원발성고혈압적상관성.방법 채용이류행병학조사위기출적병례-대조연구,재전기신강화전지구류행병학조사건립적수거고중수궤선취1299위유오이족인(포괄480례고혈압환자화819명대조)작위연구대상.수선재소양본(n=48)유오이족고혈압환자중측서사사PRDM16기인공능구적변이위점,병종중선취대표성변이위점응용TaqMan-PCR기술재대양본인군중진행기인형감정급병례-대조관련연구.결과 재PRDM16기인공능구공사사출23개변이위점.선취적PRDM16기인적4개대표성변이위점(rs2236518、rs2282198、rs2493292급rs870171)적기인형급등위기인빈솔분포재고혈압조여정상혈압조중적차이균무통계학의의(P＞0.05).Logistic회귀분석발현4개위점불시고혈압병적위험인소(P＞0.05).rs2236518、rs2282198、rs2493292급rs870171불동기인형간수축압、서장압수평차이무통계학의의(P＞0.05).단배형기인빈솔분포재고혈압조여대조조중적차이무통계학의의(P＞0.05).결론 PRDM16기인변이가능여신강유오이족원발성고혈압불상관.
Objective To assess the association of polymorphisms of PR domain containing 16 gene (PRDM16) with essential hypertension in ethnic Uygur population from Xinjiang,China.Methods Functional regions of the PRDM16 gene were sequenced in 48 Uygur subjects with essential hypertension selected from 480 hypertensive patients and 819 normotensive controls.Representative variations were genotyped with TaqMan-PCR method.Association of variations of PRDM16 gene with hypertension was analyzed.Results For the 4 genotyped representative variations (rs2236518,rs2282198,rs2493292 and rs870171),no significant difference in genotype distribution and allele frequencies has been found between the patient and control groups (P＞0.05).By ANOVA analysis,none of the polymorphisms was significantly associated with systolic or diastolic blood pressure (P＞0.05).Nor was significant difference in haplotypic frequencies between the two groups detected (P ＞ 0.05).Conclusion We have found no association between the four polymorphisms (rs2236518,rs2282198,rs2493292 and rs870171) of the PRDM16 gene with essential hypertension in ethnic Uygur population from Xinjiang.
