中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2013年
2期
108-111
,共4页
王海丽%杨丽华%贾兆通%王宝苹%孙玉萍%潘春明%宋怀东%王雪峰%任伟
王海麗%楊麗華%賈兆通%王寶蘋%孫玉萍%潘春明%宋懷東%王雪峰%任偉
왕해려%양려화%가조통%왕보평%손옥평%반춘명%송부동%왕설봉%임위
促甲状腺素受体%多态性,单核苷酸%单体型%格雷夫斯病
促甲狀腺素受體%多態性,單覈苷痠%單體型%格雷伕斯病
촉갑상선소수체%다태성,단핵감산%단체형%격뢰부사병
Thyroid stimulating hormone receptor%Polymorphism,single nucleotide%Haplotypes%Graves
目的 研究促甲状腺素受体(TSHR)基因与山东沿海地区汉族人群Graves病(GD)易感性之间的关系.方法 选取山东沿海地区471例汉族GD患者和472例健康体检者为研究对象,应用TaqMan探针技术,在Fluidigm EP1平台上对TSHR基因第一内含子区6个标签SNP位点进行分型检测,并构建单体型.结果 rs179247、rs12101261、rs4903964和rs17111394等位基因频率在GD组和对照组中有显著性差异(P=0.004、P=0.001 、P=0.005 、P=0.012).rs179247-A、rs4903964-A和rs17111394-C等位基因携带者发生GD的风险分别增加34%(OR=1.34,95% CI 1.10 ~ 1.63)、30%(OR=1.30,95% CI 1.08 ~1.57)和31%(OR=1.31,95% CI 1.06~1.62).与对照组相比,GD组rs12101261-C等位基因频率显著降低(36.0%对28.9%,P=0.001),rs12101261-C等位基因携带者发生GD的风险降低28%(OR=0.72,95% CI 0.60~0.88).Logistic回归分析显示,rs12101261是GD发病的一个独立的易感位点(P=0.033).单体型分析发现,G-G-C-G-T-T单体型频率在对照组明显高于GD组,差异有统计学意义(P=0.017,OR=0.762,95% CI 0.609 ~0.953),而A-G-T-A-C-C单体型频率在GD组明显高于对照组(P=0.033),该单体型发生GD的风险增加63%(OR=1.630,95% CI 1.035 ~2.567).结论 TSHR基因多态性及单体型与山东沿海地区汉族人GD的发生相关,rs12101261是独立易感位点.
目的 研究促甲狀腺素受體(TSHR)基因與山東沿海地區漢族人群Graves病(GD)易感性之間的關繫.方法 選取山東沿海地區471例漢族GD患者和472例健康體檢者為研究對象,應用TaqMan探針技術,在Fluidigm EP1平檯上對TSHR基因第一內含子區6箇標籤SNP位點進行分型檢測,併構建單體型.結果 rs179247、rs12101261、rs4903964和rs17111394等位基因頻率在GD組和對照組中有顯著性差異(P=0.004、P=0.001 、P=0.005 、P=0.012).rs179247-A、rs4903964-A和rs17111394-C等位基因攜帶者髮生GD的風險分彆增加34%(OR=1.34,95% CI 1.10 ~ 1.63)、30%(OR=1.30,95% CI 1.08 ~1.57)和31%(OR=1.31,95% CI 1.06~1.62).與對照組相比,GD組rs12101261-C等位基因頻率顯著降低(36.0%對28.9%,P=0.001),rs12101261-C等位基因攜帶者髮生GD的風險降低28%(OR=0.72,95% CI 0.60~0.88).Logistic迴歸分析顯示,rs12101261是GD髮病的一箇獨立的易感位點(P=0.033).單體型分析髮現,G-G-C-G-T-T單體型頻率在對照組明顯高于GD組,差異有統計學意義(P=0.017,OR=0.762,95% CI 0.609 ~0.953),而A-G-T-A-C-C單體型頻率在GD組明顯高于對照組(P=0.033),該單體型髮生GD的風險增加63%(OR=1.630,95% CI 1.035 ~2.567).結論 TSHR基因多態性及單體型與山東沿海地區漢族人GD的髮生相關,rs12101261是獨立易感位點.
목적 연구촉갑상선소수체(TSHR)기인여산동연해지구한족인군Graves병(GD)역감성지간적관계.방법 선취산동연해지구471례한족GD환자화472례건강체검자위연구대상,응용TaqMan탐침기술,재Fluidigm EP1평태상대TSHR기인제일내함자구6개표첨SNP위점진행분형검측,병구건단체형.결과 rs179247、rs12101261、rs4903964화rs17111394등위기인빈솔재GD조화대조조중유현저성차이(P=0.004、P=0.001 、P=0.005 、P=0.012).rs179247-A、rs4903964-A화rs17111394-C등위기인휴대자발생GD적풍험분별증가34%(OR=1.34,95% CI 1.10 ~ 1.63)、30%(OR=1.30,95% CI 1.08 ~1.57)화31%(OR=1.31,95% CI 1.06~1.62).여대조조상비,GD조rs12101261-C등위기인빈솔현저강저(36.0%대28.9%,P=0.001),rs12101261-C등위기인휴대자발생GD적풍험강저28%(OR=0.72,95% CI 0.60~0.88).Logistic회귀분석현시,rs12101261시GD발병적일개독립적역감위점(P=0.033).단체형분석발현,G-G-C-G-T-T단체형빈솔재대조조명현고우GD조,차이유통계학의의(P=0.017,OR=0.762,95% CI 0.609 ~0.953),이A-G-T-A-C-C단체형빈솔재GD조명현고우대조조(P=0.033),해단체형발생GD적풍험증가63%(OR=1.630,95% CI 1.035 ~2.567).결론 TSHR기인다태성급단체형여산동연해지구한족인GD적발생상관,rs12101261시독립역감위점.
Objective To investigate the association of thyroid stimulating hormone receptor (TSHR) gene polymorphisms and haplotypes with Graves' disease (GD) in Han population from coastal areas in Shandong province.Methods Four hundred and seventy-one GD patients and 472 controls from coastal areas in Shandong province were enrolled for genotyping 6 single nucleotide polymorphisms (SNPs) in TSHR gene by TaqMan probe technique on Fluidigm EPl platform.Haplotypes and their frequencies were established and analyzed by SHEsis online software.Results A significant difference in allele frequencies of rs179247,rs12101261,rs4903964,and rs17111394 was found between the GD patients and the controls (P =0.004,P =0.001,P =0.005,and P =0.012).GD risk in individuals carrying rs179247-A,rs4903964-A,and rsl7111394-C alleles was increased by 34%,30%,and 31%,respectively.The allele C frequency of rsl 2101261 was significantly lower in GD than that in controls with an odds ratio of 0.72(36.0% vs 28.9%,P=0.001).Logistic regression identified that rs12101261 was an independent susceptibility locus of GD.The frequency of the A-G-T-A-C-C haplotype in GD patient group was higher than that in control group (P =0.033) with an odds ratio of 1.630,while the G-G-C-G-T-T haplotype was strongly protective (P =0.017,OR =0.762,95 % CI 0.609-0.953).Conclusion TSHR gene polymorphisms and haplotypes are associated with GD in Han population from coastal areas in Shandong province,and rs12101261 may contribute a risk of GD independently.disease