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一项基于丹麦双胞胎人群的慢性自身免疫性甲状腺功能减退症研究。

A population-based study of chronic autoimmune hypothyroidism in Danish twins.

作者信息

Brix T H, Kyvik K O, Hegedüs L

机构信息

Department of Endocrinology M, Odense University Hospital, Denmark.

出版信息

J Clin Endocrinol Metab. 2000 Feb;85(2):536-9. doi: 10.1210/jcem.85.2.6385.

Abstract

Hashimoto's thyroiditis (HT), atrophic thyroiditis (AT), and Graves' disease are autoimmune thyroid diseases in which genetic factors are suspected to play an important role in disease susceptibility. In a recent population-based twin study we rendered it probable that a substantial part of the susceptibility to Graves' disease is attributable to genetic factors. At present there are no population-based twin studies supporting such a genetic influence in the etiology of HT/AT. To elucidate whether there is a genetic influence in the etiology of HT/AT, we studied the distribution of HT/AT in a population-based sample of 2945 Danish female-female twin pairs (5890 individuals) born between 1953 and 1972. Information on hypothyroidism was obtained from a nationwide questionnaire survey in 1994. Information from hospitals, out-patient clinics, general practitioners, and specialists was sought to verify the diagnosis. The overall prevalence of autoimmune hypothyroidism was 0.41% (24 of 5890). The prevalence did not differ between monozygotic and dizygotic twins (0.42% and 0.40%, respectively). The crude proband-wise concordance rates were significantly higher for monozygotic compared to dizygotic twin pairs: 0.55 (95% confidence interval, 0.23-0.83) vs. 0.0 (95% confidence interval, 0.0-0.25; P = 0.01). All of the healthy cotwins (n = 15) of twins with clinically overt autoimmune hypothyroidism were biochemically euthyroid. Overall, regardless of zygosity 53% (8 of 15) of the healthy cotwins were positive for antithyroid antibodies. The prevalence of autoantibodies among the monozygotic cotwins was 80% (4 of 5) and 40% (4 of 10) among dizygotic cotwins (P = 0.36). In conclusion, the higher concordance rate in monozygotic compared to dizygotic pairs indicates that genetic factors play a role in the etiology of HT/AT among Caucasian women living in areas with borderline iodine deficiency. However, the fact that the concordance rate among MZ twins was below 1 suggests that environmental factors also are of etiological importance.

摘要

桥本甲状腺炎(HT)、萎缩性甲状腺炎(AT)和格雷夫斯病是自身免疫性甲状腺疾病,人们怀疑遗传因素在这些疾病的易感性中起着重要作用。在最近一项基于人群的双胞胎研究中,我们发现格雷夫斯病易感性的很大一部分可能归因于遗传因素。目前尚无基于人群的双胞胎研究支持遗传因素对HT/AT病因的这种影响。为了阐明HT/AT病因中是否存在遗传影响,我们研究了1953年至1972年间出生的2945对丹麦女性双胞胎(5890人)的基于人群样本中HT/AT的分布情况。甲状腺功能减退症的信息来自1994年的一项全国性问卷调查。我们寻求来自医院、门诊诊所、全科医生和专家的信息以核实诊断。自身免疫性甲状腺功能减退症的总体患病率为0.41%(5890人中的24人)。单卵双胞胎和双卵双胞胎之间的患病率没有差异(分别为0.42%和0.40%)。单卵双胞胎的原始先证者一致率显著高于双卵双胞胎:0.55(95%置信区间,0.23 - 0.83)对0.0(95%置信区间,0.0 - 0.25;P = 0.01)。临床明显的自身免疫性甲状腺功能减退症双胞胎的所有健康同胞(n = 15)甲状腺生化功能均正常。总体而言,无论同卵性如何,健康同胞中有53%(15人中的8人)抗甲状腺抗体呈阳性。单卵双胞胎同胞中自身抗体的患病率为80%(5人中的4人),双卵双胞胎同胞中为40%(10人中的4人)(P = 0.36)。总之,与双卵双胞胎相比,单卵双胞胎中更高的一致率表明遗传因素在生活在碘缺乏边缘地区的白种女性中HT/AT的病因中起作用。然而,MZ双胞胎之间的一致率低于1这一事实表明环境因素在病因学上也很重要。

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