Tanrikulu Sevda, Erbil Yeşim, Ademoglu Evin, Işsever Halim, Barbaros Umut, Kutlutürk Faruk, Ozarmagan Selçuk, Tezelman Serdar
Department of Biochemistry, Istanbul University, Istanbul Medical Faculty, Capa Istanbul, Turkey.
Endocrine. 2006 Dec;30(3):377-81. doi: 10.1007/s12020-006-0017-0.
Graves' disease (GD) is a multifactorial disease that develops as a result of complex interactions between genetic and environmental factors. The aim of our study is to determine the frequency of cytotoxic T-lymphocyte- associated antigen-4 (CTLA-4) A/G and TG C/T exon 33 SNPs (Tg E33SNP) in GD and to evaluate the relation between recurrence and these polymorphisms. A total of 187 subjects, including 97 previously treated GD patients and 90 age and gender matched control subjects were studied. We examined the relationship between the A/G and C/T polymorphism and various clinical and laboratory variables among patients with GD. TT genotype frequency in the GD patients was significantly higher than the controls. Number of recurrent patients was significantly higher in AG and GG carriers in comparison to AA carriers (57% and 45% vs 14%, p = 0.0001). CTLA-4 AG genotype had an eightfold (OR: 8.050; 95% CI: 2.87-22.5; p = 0.0001) and GG genotype had a sevenfold (OR: 7.025; 95% CI: 1.67-29.4; p = 0.007) increase in the risk of recurrence in the patients with GD. In conclusion, early interpretation for definitive treatment procedures (i.e., radioactive iodine or surgery) may be considered in the patients with G allele and E33SNP of Tg gene is conformed the susceptibility to GD in a Turkish population and having TT genotype increases the susceptibility to GD.
格雷夫斯病(GD)是一种多因素疾病,由遗传和环境因素之间的复杂相互作用引发。我们研究的目的是确定细胞毒性T淋巴细胞相关抗原4(CTLA-4)A/G和TG C/T外显子33单核苷酸多态性(Tg E33SNP)在GD中的频率,并评估复发与这些多态性之间的关系。共研究了187名受试者,包括97名既往接受过治疗的GD患者和90名年龄及性别匹配的对照受试者。我们检测了GD患者中A/G和C/T多态性与各种临床及实验室变量之间的关系。GD患者中TT基因型频率显著高于对照组。与AA携带者相比,AG和GG携带者中的复发患者数量显著更高(57%和45%对14%,p = 0.0001)。CTLA-4 AG基因型使GD患者复发风险增加8倍(OR:8.050;95%CI:2.87 - 22.5;p = 0.0001),GG基因型使复发风险增加7倍(OR:7. .025;95%CI:1.67 - 29.4;p = 0.007)。总之,对于携带G等位基因的患者,可能需要考虑尽早进行明确的治疗程序(即放射性碘或手术),在土耳其人群中,Tg基因的E33SNP与GD易感性相关,且具有TT基因型会增加GD易感性。