Nicholson L B, Wong F S, Ewins D L, Butler J, Holland A, Demaine A G, McGregor A M
Department of Medicine, King's College School of Medicine and Dentistry, London, UK.
Clin Endocrinol (Oxf). 1994 Sep;41(3):381-3. doi: 10.1111/j.1365-2265.1994.tb02561.x.
Abnormalities of immune function, including thyroid autoimmunity, are common features of Down's syndrome, and the genetic associations of autoimmune thyroiditis have been extensively studied in otherwise normal patients with thyroid disease. In this study we have examined the HLA associations of autoimmune thyroid diseases in a cohort of adult subjects with Down's syndrome, to see whether they differed from those found in other populations.
Restriction fragment length polymorphism analysis was carried out in 41 subjects whose thyroid status was assessed by measuring thyroid function and autoantibody titres. The genotypes of subjects with and without hypothyroid autoimmune diseases were compared.
Forty-one older subjects with Down's syndrome and an average age of 46.6 years under review by the Maudsley Hospital.
Hypothyroid autoimmune disease in this study group was clearly associated with a 5.5-kb Taq1 DQA restriction fragment length polymorphism (Pc = 0.013) corresponding to the major histocompatibility (MHC) class II DQA 0301 allele.
In contrast to Hashimoto's thyroiditis and atrophic thyroiditis, there is a strong association between class II genotypes and hypothyroid autoimmune disease in Down's syndrome. This implies a role for a gene or genes on chromosome 21 in the development of autoimmune thyroid disease.
免疫功能异常，包括甲状腺自身免疫，是唐氏综合征的常见特征，并且自身免疫性甲状腺炎的基因关联已在其他方面正常的甲状腺疾病患者中得到广泛研究。在本研究中，我们检测了一组成年唐氏综合征患者自身免疫性甲状腺疾病与人类白细胞抗原（HLA）的关联，以观察它们是否与在其他人群中发现的情况不同。
对41名受试者进行限制性片段长度多态性分析，通过测量甲状腺功能和自身抗体滴度评估其甲状腺状态。比较了患有和未患有甲状腺功能减退自身免疫性疾病的受试者的基因型。
41名年龄较大的唐氏综合征患者，平均年龄46.6岁，正在接受莫兹利医院的检查。
在该研究组中，甲状腺功能减退自身免疫性疾病与对应于主要组织相容性复合体（MHC）II类DQA 0301等位基因的5.5 kb Taq1 DQA限制性片段长度多态性明显相关（Pc = 0.013）。
与桥本甲状腺炎和萎缩性甲状腺炎不同，唐氏综合征中II类基因型与甲状腺功能减退自身免疫性疾病之间存在强关联。这意味着21号染色体上的一个或多个基因在自身免疫性甲状腺疾病的发生中起作用。
