Belguith-Maalej Salima, Hadj Kacem Hassen, Rebai Ahmed, Mnif Mouna, Abid Mohamed, Ayadi Hammadi
Unité Cibles de Diagnostic et de Thérapeutique dans la Pathologie Humaine, Centre de Biotechnologie de Sfax, Tunisia.
Immunobiology. 2008;213(7):577-83. doi: 10.1016/j.imbio.2008.01.004. Epub 2008 Mar 4.
The thyroglobulin (Tg) gene was reported to be linked and/or associated to autoimmune thyroid diseases (AITD) development in European Caucasian populations. Here, we attempt to replicate this finding and to evaluate the contribution of the Tg gene in the genetic susceptibility of AITD in the Tunisian population. We examined the genomic region (11.5cM) containing the Tg gene by genotyping seven microsatellite markers and four SNPs located respectively at exon 10 (Ser715Ala), exon 12 (Met1009Val), exon 21 (Ala1483Ala) and exon 33 (Arg1980Trp) in 15 Tunisian multiplex families affected with AITD including Graves' disease (GD) and Hashimoto's thyroiditis (HT) (members: 87; patients: 27 GD and 16 HT). A case-control study was performed by genotyping the Tgms2 intragenic microsatellite marker (intron 27) and four intragenic SNPs on 108 unrelated patients affected with GD and 169 normal controls. Analysis of family data did not show linkage of the thyroglobulin gene with AITD nor did analysis of case-control data show association of Tgms2 or SNPs with GD. In contrast to the European Caucasian population, we failed to detect any contribution of Tg gene in the genetic component of Tunisian AITD.
据报道,在欧洲白种人群体中,甲状腺球蛋白(Tg)基因与自身免疫性甲状腺疾病(AITD)的发生存在连锁和/或关联。在此,我们试图重复这一发现,并评估Tg基因在突尼斯人群AITD遗传易感性中的作用。我们通过对7个微卫星标记和4个单核苷酸多态性(SNP)进行基因分型,检测了包含Tg基因的基因组区域(11.5厘摩),这些标记和SNP分别位于外显子10(Ser715Ala)、外显子12(Met1009Val)、外显子21(Ala1483Ala)和外显子33(Arg1980Trp),研究对象为15个患有AITD(包括格雷夫斯病(GD)和桥本甲状腺炎(HT))的突尼斯多成员家庭(成员共87人;患者包括27例GD和16例HT)。通过对Tgms2基因内微卫星标记(内含子27)和4个基因内SNP进行基因分型,对108例患GD的无血缘关系患者和169名正常对照进行了病例对照研究。家系数据分析未显示甲状腺球蛋白基因与AITD存在连锁,病例对照数据分析也未显示Tgms2或SNP与GD存在关联。与欧洲白种人群体不同,我们未能检测到Tg基因在突尼斯AITD遗传因素中的任何作用。