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
4期
477-480
,共4页
郭小凡%单珊%党洁%邱熔芳%赵海玲%辛倩%刘永超%李江夏%刘奇迹
郭小凡%單珊%黨潔%邱鎔芳%趙海玲%辛倩%劉永超%李江夏%劉奇跡
곽소범%단산%당길%구용방%조해령%신천%류영초%리강하%류기적
系统性红斑狼疮%ETS1基因%单核苷酸多态性%关联分析%单倍型
繫統性紅斑狼瘡%ETS1基因%單覈苷痠多態性%關聯分析%單倍型
계통성홍반랑창%ETS1기인%단핵감산다태성%관련분석%단배형
Systemic lupus erythematosus%ETS1 gene%Single nucleotide polymorphisms%Association study%Hyplotype
目的 验证ETS1基因在北方汉族人群系统性红斑狼疮(systemic lupus erythematosus,SLE)发生中的作用.方法 应用病例-对照关联研究,在山东汉族人群中收集231例SLE患者和474名正常对照,采用Taqman探针对ETS1基因3’非翻译区区域单核苷酸多态位点rs1128334与rs4937333进行基因分型,并对数据进行统计学计算和单倍型分析.结果 rs1128334等位基因A在病例组中的频率显著高于对照组(42.8％ vs.29.1％,OR=1.824,95％CI:1.445～2.302,P＜0.01),rs4937333等位基因T在病例组中的频率显著高于对照组,差异具有统计学意义(47.6％ vs.38.1％,OR=1.478,95％CI:1.181～1.851,P＜0.01).两位点的单倍型分析显示单倍型A-T与SLE的发病风险显著相关(P＜0.05,OR=0.738,95％CI:0.564～0.964),而单倍型G-C可以显著降低SLE的发病风险(P＜0.01,OR=0.296,95％CI:0.232～0.378).结论 ETS1基因rs1128334和rs4937333位点与北方汉族人群系统性红斑狼疮相关.
目的 驗證ETS1基因在北方漢族人群繫統性紅斑狼瘡(systemic lupus erythematosus,SLE)髮生中的作用.方法 應用病例-對照關聯研究,在山東漢族人群中收集231例SLE患者和474名正常對照,採用Taqman探針對ETS1基因3’非翻譯區區域單覈苷痠多態位點rs1128334與rs4937333進行基因分型,併對數據進行統計學計算和單倍型分析.結果 rs1128334等位基因A在病例組中的頻率顯著高于對照組(42.8％ vs.29.1％,OR=1.824,95％CI:1.445～2.302,P＜0.01),rs4937333等位基因T在病例組中的頻率顯著高于對照組,差異具有統計學意義(47.6％ vs.38.1％,OR=1.478,95％CI:1.181～1.851,P＜0.01).兩位點的單倍型分析顯示單倍型A-T與SLE的髮病風險顯著相關(P＜0.05,OR=0.738,95％CI:0.564～0.964),而單倍型G-C可以顯著降低SLE的髮病風險(P＜0.01,OR=0.296,95％CI:0.232～0.378).結論 ETS1基因rs1128334和rs4937333位點與北方漢族人群繫統性紅斑狼瘡相關.
목적 험증ETS1기인재북방한족인군계통성홍반랑창(systemic lupus erythematosus,SLE)발생중적작용.방법 응용병례-대조관련연구,재산동한족인군중수집231례SLE환자화474명정상대조,채용Taqman탐침대ETS1기인3’비번역구구역단핵감산다태위점rs1128334여rs4937333진행기인분형,병대수거진행통계학계산화단배형분석.결과 rs1128334등위기인A재병례조중적빈솔현저고우대조조(42.8％ vs.29.1％,OR=1.824,95％CI:1.445～2.302,P＜0.01),rs4937333등위기인T재병례조중적빈솔현저고우대조조,차이구유통계학의의(47.6％ vs.38.1％,OR=1.478,95％CI:1.181～1.851,P＜0.01).량위점적단배형분석현시단배형A-T여SLE적발병풍험현저상관(P＜0.05,OR=0.738,95％CI:0.564～0.964),이단배형G-C가이현저강저SLE적발병풍험(P＜0.01,OR=0.296,95％CI:0.232～0.378).결론 ETS1기인rs1128334화rs4937333위점여북방한족인군계통성홍반랑창상관.
Objective To assess the association between 2 single nucleotide polymorphisms (SNPs) of ETS1 gene and susceptibility to systemic lupus erythematosus (SLE) in a northern Chinese Han population.Methcds Two SNPs within the ETS1 gene mapped to 11q23 were selected based on HapMap data.Genotyping was conducted with Taqman method in 231 patients with SLE and 474 healthy controls from Qilu Hospital,Shandong and analyzed with PLINK1.07 software.Haplotypes were analyzed with SHEsis software.Results A statistically significant difference was detected in the distribution of rs1128334 and rs4937333 genotypes between the two groups (all P＜0.01).For rs1128334,the frequency of the minor allele was 0.291 and 0.428 in controls and cases,respectively.For rs4937333,the minor allele frequency was 0.381 and 0.476 in controls and cases respectively.An A-C haplotype was found to be strongly associated with increased risk for SLE,while another haplotype G-C may reduce this risk.Conclusion Our study has suggested that rs1128334 and rs4937333 are strongly associated with the risk for SLE in northern Chinese Han population.
