中国医药
中國醫藥
중국의약
China Medicine
2015年
11期
1606-1608
,共3页
Graves病%维吾尔族%哈萨克族%子宫球蛋白相关蛋白1%单核苷酸多态性
Graves病%維吾爾族%哈薩剋族%子宮毬蛋白相關蛋白1%單覈苷痠多態性
Graves병%유오이족%합살극족%자궁구단백상관단백1%단핵감산다태성
Graves disease%Uygur%Kazak%Uteroglobin-related protein%Single nucleotide polymorphisms polymorphisms
目的 探讨新疆维吾尔族和哈萨克族毒性弥漫性甲状腺肿(Graves病)患者子宫球蛋白相关蛋白1(UGRP1)基因单核苷酸多态性(SNP).方法 收集2010年1-7月新疆地区374例散发维吾尔族和哈萨克族Graves病患者(Graves病组)以及年龄相匹配的378名维吾尔族和哈萨克族健康对照者(对照组),采集外周血白细胞抽提DNA,分析UGRP1 SNP位点,采用TaqMan探针技术,在Fluidigm EP1平台上进行等位基因和基因型分析,比较Graves病组和对照组基因型差异,并比较不同性别、是否有高血压、是否为复发、是否有胫前黏液性水肿、不同甲状腺肿大程度和突眼程度Graves病患者间基因型差异.结果 共分析UGRP1基因上33个SNP位点,其中rs 6859391位点GG、CC和CG型对照组分别为88.6％(335/378)、0.5％ (2/378)、10.9％(41/378),Graves病组分别为94.4％(353/374),0.3％ (1/374)和5.3％(20/374),2组间差异有统计学意义(P＜0.05);对照组和Graves病组G等位基因频率分别为94.0％(711/756)和97.1％(726/748),C等位基因频率分别为6.0％(45/756)和2.9％(22/748),C等位基因为维吾尔族和哈萨克族Graves病发生的保护性碱基(比值比=0.48,95％置信区间:0.28～0.82,P＜0.01).不同临床特征Graves病患者rs 6859391位点基因类型差异均无统计学意义(均P＞0.05).结论 UGRP1基因位点rs 6859391SNP可能参与新疆维吾尔族和哈萨克族人群Graves病的发生、发展.
目的 探討新疆維吾爾族和哈薩剋族毒性瀰漫性甲狀腺腫(Graves病)患者子宮毬蛋白相關蛋白1(UGRP1)基因單覈苷痠多態性(SNP).方法 收集2010年1-7月新疆地區374例散髮維吾爾族和哈薩剋族Graves病患者(Graves病組)以及年齡相匹配的378名維吾爾族和哈薩剋族健康對照者(對照組),採集外週血白細胞抽提DNA,分析UGRP1 SNP位點,採用TaqMan探針技術,在Fluidigm EP1平檯上進行等位基因和基因型分析,比較Graves病組和對照組基因型差異,併比較不同性彆、是否有高血壓、是否為複髮、是否有脛前黏液性水腫、不同甲狀腺腫大程度和突眼程度Graves病患者間基因型差異.結果 共分析UGRP1基因上33箇SNP位點,其中rs 6859391位點GG、CC和CG型對照組分彆為88.6％(335/378)、0.5％ (2/378)、10.9％(41/378),Graves病組分彆為94.4％(353/374),0.3％ (1/374)和5.3％(20/374),2組間差異有統計學意義(P＜0.05);對照組和Graves病組G等位基因頻率分彆為94.0％(711/756)和97.1％(726/748),C等位基因頻率分彆為6.0％(45/756)和2.9％(22/748),C等位基因為維吾爾族和哈薩剋族Graves病髮生的保護性堿基(比值比=0.48,95％置信區間:0.28～0.82,P＜0.01).不同臨床特徵Graves病患者rs 6859391位點基因類型差異均無統計學意義(均P＞0.05).結論 UGRP1基因位點rs 6859391SNP可能參與新疆維吾爾族和哈薩剋族人群Graves病的髮生、髮展.
목적 탐토신강유오이족화합살극족독성미만성갑상선종(Graves병)환자자궁구단백상관단백1(UGRP1)기인단핵감산다태성(SNP).방법 수집2010년1-7월신강지구374례산발유오이족화합살극족Graves병환자(Graves병조)이급년령상필배적378명유오이족화합살극족건강대조자(대조조),채집외주혈백세포추제DNA,분석UGRP1 SNP위점,채용TaqMan탐침기술,재Fluidigm EP1평태상진행등위기인화기인형분석,비교Graves병조화대조조기인형차이,병비교불동성별、시부유고혈압、시부위복발、시부유경전점액성수종、불동갑상선종대정도화돌안정도Graves병환자간기인형차이.결과 공분석UGRP1기인상33개SNP위점,기중rs 6859391위점GG、CC화CG형대조조분별위88.6％(335/378)、0.5％ (2/378)、10.9％(41/378),Graves병조분별위94.4％(353/374),0.3％ (1/374)화5.3％(20/374),2조간차이유통계학의의(P＜0.05);대조조화Graves병조G등위기인빈솔분별위94.0％(711/756)화97.1％(726/748),C등위기인빈솔분별위6.0％(45/756)화2.9％(22/748),C등위기인위유오이족화합살극족Graves병발생적보호성감기(비치비=0.48,95％치신구간:0.28～0.82,P＜0.01).불동림상특정Graves병환자rs 6859391위점기인류형차이균무통계학의의(균P＞0.05).결론 UGRP1기인위점rs 6859391SNP가능삼여신강유오이족화합살극족인군Graves병적발생、발전.
Objective To explore the single nucleotide polymorphisms (SNPs) of uteroglobin-related protein (UGRP1) gene in Uygur and Kazak patients with Graves disease.Methods Totally 426 sporadic Uygur and Kazak patients of Graves disease (Graves disease group) and 387 age-matched healthy volunteers (control group) from January to July 2010 were enrolled.The DNA was extracted from peripheral white blood cells to analyze the UGRP1 SNP loci.The genotype was analyzed using TaqMan probe technique and Fluidigm EP1 platforms.In addition, the difference of genetype in Graves disease patients with different clinical indicators, including sex, blood pressure, recurrence, myxedema, degree of goiter and exophthalmos, were compared.Results A total of 33 SNPS loci of UGRP1 gene were analyzed;the allele and genotype allele frequencies of SNP loci rs6859391 showed differences between control group [GG genetype : 88.6％ (335/378), CC genetype : 0.5 ％ (2/378), CG genetype: 10.9％ (41/378)] and Graves group [GG genetype: 94.4％ (353/374), CC genetype: 0.3％ (1/374), CG genetype: 5.3％ (20/374)] (P ＜ 0.05).In control group and Graves disease group, the ratio of G allele was 94.0％ (711/756) and 97.1％ (726/748) respectively;the ratio of C allele was 6.0％ (45/756) and 2.9％ (22/748) respectively.The C allele was a protective factor for Graves disease (odds ratio: 0.48, 95％ confidence interval: 0.28-0.82, P ＜ 0.01).The genotype allele of rs 6859391 loci showed no statistical differences among Graves disease patients with different symptoms (all P ＞ 0.05).Conclusion SNP of UGRP1 gene locus and rs 6859391 may be involved in the occurrence and development of Graves disease in Uygur and Kazak people.
