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
2012年
4期
306-310
,共5页
王冉%张晓梅%刘炳丽%杨静静%滕晓蕾%孙卫华%刘威%薛丽琼%宋怀东
王冉%張曉梅%劉炳麗%楊靜靜%滕曉蕾%孫衛華%劉威%薛麗瓊%宋懷東
왕염%장효매%류병려%양정정%등효뢰%손위화%류위%설려경%송부동
格雷夫斯病%TSHR基因内含子1%TSH受体抗体%多态性,单核苷酸
格雷伕斯病%TSHR基因內含子1%TSH受體抗體%多態性,單覈苷痠
격뢰부사병%TSHR기인내함자1%TSH수체항체%다태성,단핵감산
Graves' disease%TSHR gene intron 1%TSH receptor antibodies%Polymorphism,single nucleotide
目的 探讨中国安徽蚌埠地区汉族人群Graves病患者促甲状腺激素受体(TSHR)基因内含子l上单核苷酸多态性位点(SNP) rs179247、rs12101261、rs2284722、rs4903964、rs2300525、rs17111394与Graves病的关系.方法 用TaqMan探针技术,在Fluidigm EP1平台上对618例Graves病患者和646名健康对照者进行等位基因分型;同时对Graves病患者检测促甲状腺激素受体抗体(TRAb)水平.结果 在6个分析的SNP位点中,除rs2300525外,余5个SNPs均与Graves病易感性关联,以rs179247_G,rs12101261_C,rs4903964_G与Graves病相关性最显著(P=2.85×10-10,OR=1.73,95％CI 1.46 ～2.05;P=1.74×10-10,OR=1.73,95％ CI 1.46 ～ 2.05;P=2.24× 10 10,OR=1.69,95％ CI 1.44 ～ 1.99);logistic回归提示rs12101261和rs4903964是TSHR基因内含子1上的主效易感位点.rs179247_G,rs12101261 _C及rs4903964_G与TRAb阳性Graves病患者显著关联(P=4.24×10-13,P=5.48×10-13,P=3.89×10-12).结论 TSHR基因内含子1区域rs179247、rs12101261、rs4903964与蚌埠地区汉族人群Graves病明显相关联;并且rs12101261和rs4903964是TSHR基因内含子1上的主效易感位点;TSHR基因可能是TRAb持续阳性Graves病患者的一个主效易感基因.
目的 探討中國安徽蚌埠地區漢族人群Graves病患者促甲狀腺激素受體(TSHR)基因內含子l上單覈苷痠多態性位點(SNP) rs179247、rs12101261、rs2284722、rs4903964、rs2300525、rs17111394與Graves病的關繫.方法 用TaqMan探針技術,在Fluidigm EP1平檯上對618例Graves病患者和646名健康對照者進行等位基因分型;同時對Graves病患者檢測促甲狀腺激素受體抗體(TRAb)水平.結果 在6箇分析的SNP位點中,除rs2300525外,餘5箇SNPs均與Graves病易感性關聯,以rs179247_G,rs12101261_C,rs4903964_G與Graves病相關性最顯著(P=2.85×10-10,OR=1.73,95％CI 1.46 ～2.05;P=1.74×10-10,OR=1.73,95％ CI 1.46 ～ 2.05;P=2.24× 10 10,OR=1.69,95％ CI 1.44 ～ 1.99);logistic迴歸提示rs12101261和rs4903964是TSHR基因內含子1上的主效易感位點.rs179247_G,rs12101261 _C及rs4903964_G與TRAb暘性Graves病患者顯著關聯(P=4.24×10-13,P=5.48×10-13,P=3.89×10-12).結論 TSHR基因內含子1區域rs179247、rs12101261、rs4903964與蚌埠地區漢族人群Graves病明顯相關聯;併且rs12101261和rs4903964是TSHR基因內含子1上的主效易感位點;TSHR基因可能是TRAb持續暘性Graves病患者的一箇主效易感基因.
목적 탐토중국안휘방부지구한족인군Graves병환자촉갑상선격소수체(TSHR)기인내함자l상단핵감산다태성위점(SNP) rs179247、rs12101261、rs2284722、rs4903964、rs2300525、rs17111394여Graves병적관계.방법 용TaqMan탐침기술,재Fluidigm EP1평태상대618례Graves병환자화646명건강대조자진행등위기인분형;동시대Graves병환자검측촉갑상선격소수체항체(TRAb)수평.결과 재6개분석적SNP위점중,제rs2300525외,여5개SNPs균여Graves병역감성관련,이rs179247_G,rs12101261_C,rs4903964_G여Graves병상관성최현저(P=2.85×10-10,OR=1.73,95％CI 1.46 ～2.05;P=1.74×10-10,OR=1.73,95％ CI 1.46 ～ 2.05;P=2.24× 10 10,OR=1.69,95％ CI 1.44 ～ 1.99);logistic회귀제시rs12101261화rs4903964시TSHR기인내함자1상적주효역감위점.rs179247_G,rs12101261 _C급rs4903964_G여TRAb양성Graves병환자현저관련(P=4.24×10-13,P=5.48×10-13,P=3.89×10-12).결론 TSHR기인내함자1구역rs179247、rs12101261、rs4903964여방부지구한족인군Graves병명현상관련;병차rs12101261화rs4903964시TSHR기인내함자1상적주효역감위점;TSHR기인가능시TRAb지속양성Graves병환자적일개주효역감기인.
Objective To investigate the association between the six single nucleotide polymorphisms ( SNP),named as rs179247,rsl2101261,rs2284722,rs4903964,rs2300525,rsl7111394 in the intron 1 of thyroid stimulating hormone receptor gene (TSHR) and Graves' disease (GD).Methods The genotypes of the six SNPs were genotyped by Taqman probe technique on Fluidigm EP1 platform in 618 GD patients and 646 control subjects.Meanwhile,TSH receptor antibodies (TRAb) of the patients were determined.Results Among the six SNPs,five S NPs were strongly associated with GD,with the most signals at rs179247_G,rs12101261_C,rs4903964 _G (P=2.85×10-10,OR=1.73,95％CI1.46-2.05;P=1.74×10-10,OR=1.73,95％CI 1.46-2.05;P=2.24×10-10,OR=1.69,95％ CI 1.44-1.99 ).The results of logistic regression analysis indicated that rs12101261 and rs4903964 were main susceptibility loci of GD in the intron 1 of TSHR.rs179247_G,rs1210126 1_C,and rs4903964_G were associated with subset of the GD patients with positive TRAb (P=4.24× 10-13,p=5.48× 10-13,P =3.89×10-12 ).Conclusion rs179247,rs12101261,and rs4903964 in TSHR intron 1 were significantly associated with GD in the Chinese Han population from Bengbu city.rs12101261 and rs4903964 were the major susceptibility SNPs associated with GD.TSHR gene may play a main role of susceptibility gene in the subset of GD patients with persistent positive TRAb.
