中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2013年
8期
693-698
,共6页
孙菲%李萍%吴子燕%徐涓娟%陈华%田新平%张奉春%李永哲
孫菲%李萍%吳子燕%徐涓娟%陳華%田新平%張奉春%李永哲
손비%리평%오자연%서연연%진화%전신평%장봉춘%리영철
干燥综合征%多态性,单核苷酸%蛋白酪氨酸激酶类
榦燥綜閤徵%多態性,單覈苷痠%蛋白酪氨痠激酶類
간조종합정%다태성,단핵감산%단백락안산격매류
Sj(o)gren's syndrome%Polymorphism,single nucleotide%Proterin-tyrosine kinases
目的 探讨中国汉族人群中与其他自身免疫性疾病相关的FAM167A-BLK和TNFSF4基因区域多态性是否与原发性干燥综合征(pSS)存在遗传相关性.方法 临床对照研究.选取2008年11月至2011年12月北京协和医院515例中国汉族pSS患者和567名健康体检者,对所有候选单核苷酸多态性(SNP)位点采用时间飞行质谱生物芯片系统(Sequenom MassArray)进行基因分型.采用x2检验、logistic回归分析对SNP位点的基因型、等位基因、上位效应和单体型进行相关性分析,并在3种遗传模型(加性、显性和隐性)下对各SNP位点进行相关性分析.结果 FAM167A-BLK基因区域的rs7812879和rs2254546位点在pSS组的基因型频率为:TT 6.2％,TC 28.5％,CC 65.2％；AA6.0％,AG 30.0％,GG 64.0％；在健康对照组的基因型频率为:TT 4.7％,TC 38.2％,CC 57.1％；AA5.1％,AG 39.3％,GG 55.6％,差异有统计学意义(x2=11.09、9.91,Pa ＜0.05).且在显性遗传模型下,rs7812879(OR =0.71,Pa =0.044)、rs2254546(OR=0.70,Pa=0.037)和rs2736340(OR =0.71,Pa=0.039)3个SNP位点基因型分布在pSS组和健康对照组之间差异均有统计学意义.rs7812879、rs2254546和rs2736340位点组成的CGT单体型在pSS组和健康对照组的频率分别为75.7％和70.8％,差异有统计学意义(x2=6.36,P=0.012).在各种分析中未发现FAM167A-BLK基因区域的rs2248932和TNFSF4(rs2205960和rs704840)基因多态性与pSS相关(P均＞0.05),且FAM167A-BLK和TNFSF4基因区域内未发现所选SNP位点存在上位效应(P均＞0.05).结论 在汉族人群中FAM167A-BLK基因区域的rs7812879、rs2254546和rs2736340位点与pSS的遗传易感性密切相关,而FAM167A-BLK基因区域的rs2248932以及TNFSF4基因区域的rs2205960和rs704840与pSS的易感性无明确相关性.
目的 探討中國漢族人群中與其他自身免疫性疾病相關的FAM167A-BLK和TNFSF4基因區域多態性是否與原髮性榦燥綜閤徵(pSS)存在遺傳相關性.方法 臨床對照研究.選取2008年11月至2011年12月北京協和醫院515例中國漢族pSS患者和567名健康體檢者,對所有候選單覈苷痠多態性(SNP)位點採用時間飛行質譜生物芯片繫統(Sequenom MassArray)進行基因分型.採用x2檢驗、logistic迴歸分析對SNP位點的基因型、等位基因、上位效應和單體型進行相關性分析,併在3種遺傳模型(加性、顯性和隱性)下對各SNP位點進行相關性分析.結果 FAM167A-BLK基因區域的rs7812879和rs2254546位點在pSS組的基因型頻率為:TT 6.2％,TC 28.5％,CC 65.2％；AA6.0％,AG 30.0％,GG 64.0％；在健康對照組的基因型頻率為:TT 4.7％,TC 38.2％,CC 57.1％；AA5.1％,AG 39.3％,GG 55.6％,差異有統計學意義(x2=11.09、9.91,Pa ＜0.05).且在顯性遺傳模型下,rs7812879(OR =0.71,Pa =0.044)、rs2254546(OR=0.70,Pa=0.037)和rs2736340(OR =0.71,Pa=0.039)3箇SNP位點基因型分佈在pSS組和健康對照組之間差異均有統計學意義.rs7812879、rs2254546和rs2736340位點組成的CGT單體型在pSS組和健康對照組的頻率分彆為75.7％和70.8％,差異有統計學意義(x2=6.36,P=0.012).在各種分析中未髮現FAM167A-BLK基因區域的rs2248932和TNFSF4(rs2205960和rs704840)基因多態性與pSS相關(P均＞0.05),且FAM167A-BLK和TNFSF4基因區域內未髮現所選SNP位點存在上位效應(P均＞0.05).結論 在漢族人群中FAM167A-BLK基因區域的rs7812879、rs2254546和rs2736340位點與pSS的遺傳易感性密切相關,而FAM167A-BLK基因區域的rs2248932以及TNFSF4基因區域的rs2205960和rs704840與pSS的易感性無明確相關性.
목적 탐토중국한족인군중여기타자신면역성질병상관적FAM167A-BLK화TNFSF4기인구역다태성시부여원발성간조종합정(pSS)존재유전상관성.방법 림상대조연구.선취2008년11월지2011년12월북경협화의원515례중국한족pSS환자화567명건강체검자,대소유후선단핵감산다태성(SNP)위점채용시간비행질보생물심편계통(Sequenom MassArray)진행기인분형.채용x2검험、logistic회귀분석대SNP위점적기인형、등위기인、상위효응화단체형진행상관성분석,병재3충유전모형(가성、현성화은성)하대각SNP위점진행상관성분석.결과 FAM167A-BLK기인구역적rs7812879화rs2254546위점재pSS조적기인형빈솔위:TT 6.2％,TC 28.5％,CC 65.2％；AA6.0％,AG 30.0％,GG 64.0％；재건강대조조적기인형빈솔위:TT 4.7％,TC 38.2％,CC 57.1％；AA5.1％,AG 39.3％,GG 55.6％,차이유통계학의의(x2=11.09、9.91,Pa ＜0.05).차재현성유전모형하,rs7812879(OR =0.71,Pa =0.044)、rs2254546(OR=0.70,Pa=0.037)화rs2736340(OR =0.71,Pa=0.039)3개SNP위점기인형분포재pSS조화건강대조조지간차이균유통계학의의.rs7812879、rs2254546화rs2736340위점조성적CGT단체형재pSS조화건강대조조적빈솔분별위75.7％화70.8％,차이유통계학의의(x2=6.36,P=0.012).재각충분석중미발현FAM167A-BLK기인구역적rs2248932화TNFSF4(rs2205960화rs704840)기인다태성여pSS상관(P균＞0.05),차FAM167A-BLK화TNFSF4기인구역내미발현소선SNP위점존재상위효응(P균＞0.05).결론 재한족인군중FAM167A-BLK기인구역적rs7812879、rs2254546화rs2736340위점여pSS적유전역감성밀절상관,이FAM167A-BLK기인구역적rs2248932이급TNFSF4기인구역적rs2205960화rs704840여pSS적역감성무명학상관성.
Objective To investigate whether single nucleotide polymorphisms (SNPs) in the FAM167A-BLK (rs7812879,rs2254546,rs2736340 and rs2248932) and TNFSF4 (rs2205960 and rs704840) region which have been associated with other autoimmune diseases could be associated with pSS in Chinese Han.Methods This study was designed as a case-control.The SNPs were genotyped in a cohort of 515 primary S(o)gren's syndrome (pSS) patients and 567 healthy controls,by using the Sequenom MassArray system.The genotypes,alleles,epistasis and haplotypes of the SNPs were analyzed with PLINK1.07 and Haploview v4.2 using chi-square test,logistic regression analysis and Bonferroni correction,SNPs were further analyzed under three genetic models (additive,dominant,and recessive).Results Genotype distribution of rs7812879 and rs2254546 in pSS patients were as follows:TT 6.2％,TC 28.5％,CC 65.2％ ;AA 6.0％,AG 30.0％,GG 64.0％ respectively,correspondingly in healthy controls were as follows:TT 4.7％,TC 38.2％,CC 57.1％ ;AA 5.1％,AG 39.3％,GG 55.6％,and significant differences were observed between pSS patients and controls (x2 =11.09,Pa =0.023; x2 =9.91,Pa =0.042 respectively).Genotype distribution of the three SNPs (rs7812879,rs2254546,rs2736340) were all significant different between pSS patients and controls under the dominant genetic model (OR =0.71,Pa =0.044; OR =0.70,Pa =0.037; OR =0.71,Pa =0.039 respectively).The frequencies of haplotype CGT formed by rs7812879,rs2254546 and rs2736340 in pSS patients and healthy controls were 75.7％ and 70.8％,respectively.So haplotype CGT was strongly associated with pSS (x2 =6.36,P =0.012).Thefrequencies of alleles and genotypes of rs2248932 in FAM167A-BLK and TNFSF4 SNPs were not significantly different between the pSS patients and controls (all Pa ＞ 0.05).No epistatic interactions were found to exist between the SNPs examined.Conclusions Our results indicated that FAM167A-BLK SNPs (rs7812879,rs2254546,rs2736340) imparts susceptibility to pSS in Han Chinese,but not rs2248932 in FAM167A-BLK or the TNFSF4 SNPs (rs2205960 and rs704840).
