中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2008年
14期
969-972
,共4页
周妙妮%许爱娥%卢良君%李永伟%赵德矿%关翠萍
週妙妮%許愛娥%盧良君%李永偉%趙德礦%關翠萍
주묘니%허애아%로량군%리영위%조덕광%관취평
白癜风%多态性,单核苷酸%Nrf2
白癜風%多態性,單覈苷痠%Nrf2
백전풍%다태성,단핵감산%Nrf2
Vitiligo%Polymorphism,single nucleotide%Nrt2
目的 分析Nrf2基因启动子区多态性与白癜风发病风险的关联性,探索Nrf2基因在白癜风发病中的作用.方法 应用DNA直接测序的方法分析300例健康样本和300例白癜风样本Nrf2基因的-686A/G、-684G/A和-650C/A多态性位点,-20 bp和-6 bp之间的(CCG)n数目可变串联重复序列(VNTR)多态性则通过基因扫描进行分型.基因型频率和等位基因型频率分析应用x2检验,并通过计算OR值和95%可信区间分析基因与疾病的关联强度.结果 各位点的对照组和病例组样本均符合Hardy-Weinberg遗传平衡定律.白癜风组-650C/A位点的带A等位基因的基因型(CA型+AA型)的频率为59.0%,高于健康对照组(43.3%)(x2=7.933,P＜0.05);A等位基因频率(36.5%)也明显高于健康对照组(25.0%)(x2=18.096,P＜0.01),该位点的A等位基因与白癜风发病风险之间存在有统计学意义的关联性(OR=1.724,95%可信区间:1.345～2.211,P＜0.01),AA纯合子基因型可使白癜风的发病风险明显增加(OR=2.902,95%可信区间:1.624～5.188,P＜0.01).其余位点基因型及等位基因频率二组间差异无统计学意义.结论 Nrf2基因启动子区的-650C/A多态性位点与白癜风发病有一定的关联性,该位点处A等位基因可能是影响白癜风发病的一个危险因素.
目的 分析Nrf2基因啟動子區多態性與白癜風髮病風險的關聯性,探索Nrf2基因在白癜風髮病中的作用.方法 應用DNA直接測序的方法分析300例健康樣本和300例白癜風樣本Nrf2基因的-686A/G、-684G/A和-650C/A多態性位點,-20 bp和-6 bp之間的(CCG)n數目可變串聯重複序列(VNTR)多態性則通過基因掃描進行分型.基因型頻率和等位基因型頻率分析應用x2檢驗,併通過計算OR值和95%可信區間分析基因與疾病的關聯彊度.結果 各位點的對照組和病例組樣本均符閤Hardy-Weinberg遺傳平衡定律.白癜風組-650C/A位點的帶A等位基因的基因型(CA型+AA型)的頻率為59.0%,高于健康對照組(43.3%)(x2=7.933,P＜0.05);A等位基因頻率(36.5%)也明顯高于健康對照組(25.0%)(x2=18.096,P＜0.01),該位點的A等位基因與白癜風髮病風險之間存在有統計學意義的關聯性(OR=1.724,95%可信區間:1.345～2.211,P＜0.01),AA純閤子基因型可使白癜風的髮病風險明顯增加(OR=2.902,95%可信區間:1.624～5.188,P＜0.01).其餘位點基因型及等位基因頻率二組間差異無統計學意義.結論 Nrf2基因啟動子區的-650C/A多態性位點與白癜風髮病有一定的關聯性,該位點處A等位基因可能是影響白癜風髮病的一箇危險因素.
목적 분석Nrf2기인계동자구다태성여백전풍발병풍험적관련성,탐색Nrf2기인재백전풍발병중적작용.방법 응용DNA직접측서적방법분석300례건강양본화300례백전풍양본Nrf2기인적-686A/G、-684G/A화-650C/A다태성위점,-20 bp화-6 bp지간적(CCG)n수목가변천련중복서렬(VNTR)다태성칙통과기인소묘진행분형.기인형빈솔화등위기인형빈솔분석응용x2검험,병통과계산OR치화95%가신구간분석기인여질병적관련강도.결과 각위점적대조조화병례조양본균부합Hardy-Weinberg유전평형정률.백전풍조-650C/A위점적대A등위기인적기인형(CA형+AA형)적빈솔위59.0%,고우건강대조조(43.3%)(x2=7.933,P＜0.05);A등위기인빈솔(36.5%)야명현고우건강대조조(25.0%)(x2=18.096,P＜0.01),해위점적A등위기인여백전풍발병풍험지간존재유통계학의의적관련성(OR=1.724,95%가신구간:1.345～2.211,P＜0.01),AA순합자기인형가사백전풍적발병풍험명현증가(OR=2.902,95%가신구간:1.624～5.188,P＜0.01).기여위점기인형급등위기인빈솔이조간차이무통계학의의.결론 Nrf2기인계동자구적-650C/A다태성위점여백전풍발병유일정적관련성,해위점처A등위기인가능시영향백전풍발병적일개위험인소.
Objective To investigate the association of the single nucleotide polymorphisms (SNPs)in Nrf2 promoter region with the susceptibility to risk of vitiligo. Methods Samples of peripheral blood were collected from 300 vitiligo patients and 300 healthy persons. The genotypes of -686A/G, -684G/A, and -650C/A were detected by direct-sequencing. Genotyping of variable number of tandem repeat (VNTR)was performed by gene scan analysis with an ABI 3 10 Sequencer. Genetic and allelie frequencies were analyzed by Chi-square test and the risk was evaluated by calculating OR and 95% CI. Results There was statistical significant difierence in genotypic and allelie frequencies of -650C/A between the vitiligo group and healthy control group(P＜0. 05), and A-650 allele was associated with risk for vitiligo statistically significantly(OR=1. 724, 95% CI: 1. 345-2. 211, x2=18. 096, P＜0. 01). Homozygote of A allele inereased the risk for vitiligo obviously(OR=2. 902, 95% CI: 1. 624-5. 188, P＜0. 01). No significant difference was found in other three polymorphisms between the two groups. Conelusion polymorphism of Nrf2 promoter region-650C/A was associated with the development of vitiligo and A -650 allele may be one of risk factors for vitiligo.
