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
2011年
6期
478-481
,共4页
杨邵英%刘威%薛丽琼%赵双霞%潘春明%梁军%宋怀东
楊邵英%劉威%薛麗瓊%趙雙霞%潘春明%樑軍%宋懷東
양소영%류위%설려경%조쌍하%반춘명%량군%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 探讨中国江苏徐州地区汉族人群促甲状腺素受体(TSHR)基因内含子1 上单核苷酸多态性位点(SNP)rs179247和rs12101261与Graves病的关系.方法应用TaqMan探针技术,在Fluidigm EP1平台上对1 066例Graves病患者和1 107名健康对照者进行基因分型;同时检测样本血清甲状腺激素和TSH受体抗体(TRAb)水平.结果 rs179247_A、rs12101261_T与Graves病易感性关联(分别为OR=1.35,95%CI 1.19～1.54,P=5.92×10-6;OR=1.32,95%CI 1.16～1.50,P=2.22×10-5);Logistic回归提示rs179247是独立的易感位点.在rs179247_GG、AG、AA 3种基因型之间相比,血清TRAb水平具有统计学差异(P=0.015);其他临床表现其差异均无统计学意义(P＞0.05).结论 TSHR基因内含子1区域rs179247、rs12101261与徐州地区汉族人群Graves病相关联,并且rs179247是一个独立易感位点;该多态性与血清TRAb水平有关,与血清甲状腺激素水平、发病年龄、甲状腺肿大程度、Graves病眼征分级、复发与否无明显关联.
目的 探討中國江囌徐州地區漢族人群促甲狀腺素受體(TSHR)基因內含子1 上單覈苷痠多態性位點(SNP)rs179247和rs12101261與Graves病的關繫.方法應用TaqMan探針技術,在Fluidigm EP1平檯上對1 066例Graves病患者和1 107名健康對照者進行基因分型;同時檢測樣本血清甲狀腺激素和TSH受體抗體(TRAb)水平.結果 rs179247_A、rs12101261_T與Graves病易感性關聯(分彆為OR=1.35,95%CI 1.19～1.54,P=5.92×10-6;OR=1.32,95%CI 1.16～1.50,P=2.22×10-5);Logistic迴歸提示rs179247是獨立的易感位點.在rs179247_GG、AG、AA 3種基因型之間相比,血清TRAb水平具有統計學差異(P=0.015);其他臨床錶現其差異均無統計學意義(P＞0.05).結論 TSHR基因內含子1區域rs179247、rs12101261與徐州地區漢族人群Graves病相關聯,併且rs179247是一箇獨立易感位點;該多態性與血清TRAb水平有關,與血清甲狀腺激素水平、髮病年齡、甲狀腺腫大程度、Graves病眼徵分級、複髮與否無明顯關聯.
목적 탐토중국강소서주지구한족인군촉갑상선소수체(TSHR)기인내함자1 상단핵감산다태성위점(SNP)rs179247화rs12101261여Graves병적관계.방법응용TaqMan탐침기술,재Fluidigm EP1평태상대1 066례Graves병환자화1 107명건강대조자진행기인분형;동시검측양본혈청갑상선격소화TSH수체항체(TRAb)수평.결과 rs179247_A、rs12101261_T여Graves병역감성관련(분별위OR=1.35,95%CI 1.19～1.54,P=5.92×10-6;OR=1.32,95%CI 1.16～1.50,P=2.22×10-5);Logistic회귀제시rs179247시독립적역감위점.재rs179247_GG、AG、AA 3충기인형지간상비,혈청TRAb수평구유통계학차이(P=0.015);기타림상표현기차이균무통계학의의(P＞0.05).결론 TSHR기인내함자1구역rs179247、rs12101261여서주지구한족인군Graves병상관련,병차rs179247시일개독립역감위점;해다태성여혈청TRAb수평유관,여혈청갑상선격소수평、발병년령、갑상선종대정도、Graves병안정분급、복발여부무명현관련.
Objective To investigate the association between polymorphisms of thyroid-stimulating hormone receptor(TSHR)gene intron 1(rs179247, rs12101261)and Graves′ disease(GD)in the China Han population from Xuzhou city, Jiangsu Province. Methods Total 1 066 GD patients and 1 107 control subjects were recruited for genotyping by Taqman probe technique on Fluidigm EP1 platform. Meanwhile, serum concentrations of thyroid hormone and TSH receptor antibodies(TRAb)were determined. Results The rs179247_A, rs12101261_T were significantly associated with GD risk(OR=1.35, 95%CI 1.19-1.54, P=5.92×10-6; OR=1.32, 95%CI 1.16-1.50, P=2.22×10-5). Logistic regression identified that rs179247 was an independent susceptibility locus of GD. Serum TRAb concentration showed a significant difference(P=0.015)among rs179247_AA, AG, and GG genotypes. Conclusion rs179247 and rs12101261 in TSHR intron 1 are both associated with GD, and rs179247 may contribute risk to GD independently. The polymorphism is associated with TRAb, but not with serum concentration of thyroid hormones, age of onset, diffused thyroid goiter, ophthalmic signs, and relapse.
