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目的探索家族性Ｇｒａｖｅｓ’病（ＧＤ）和桥本甲状腺炎（ＨＴ）的遗传方式及发病相关性。方法按ＷＨＯ标准，诊断有ＧＤ或ＨＴ家族史的ＧＤ先证者２８１例，ＨＴ先证者８２例，与先证者性别、年龄相当的对照８００名，进行三代家族史和血统成员的调查研究。结果系谱分析显示：ＧＤ先证者家系组ＧＤ和ＨＴ的患病率是对照的９３．３倍和５．７倍（１９．６％对０．２１％和０．８０％对０．１４％），ＨＴ先证者家系组ＧＤ和ＨＴ的患病率（７．９％、１１．９％）是对照的３７．６倍和８５．０倍。ＧＤ先证者家系组与ＨＴ先证者家系组的一、二级亲属患ＧＤ的频率相近（１７．５％对１３．３％、５．７％对５．１％），且都极显著的高于对照组（０．２７％、０．２２％）。２２．４％ＧＤ先证者家系中患者数≥３，先证者同胞中，ＧＤ患病率为４５．９％。在双亲或其中之一为患者的３１个核心家系，ＧＤ符合常染色体显性（ＡＤ）遗传。家族性ＧＤ的遗传度为１２２．３±２．７７％。结论家族性ＧＤ和ＨＴ均为多基因遗传病，但ＧＤ有一个显性主基因存在，部分家系表现ＡＤ遗传。ＧＤ和ＨＴ的遗传基础有较多联系。
Objective To explore the genetic patterns and pathogenesis of familial Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). Methods According to the WHO standard, 281 cases of GD probands and 82 cases of HT probands were diagnosed by family history of GD or HT, and 800 cases were matched with sex and age of probands. . Results The pedigree analysis showed that the prevalence of GD and HT in the family members of GD probands was 93.3 times and 5.7 times that of controls (19.6% vs 0.21% and 0.80% vs 0.14% ). The prevalences of GD and HT in HT probands (7.9%, 11.9%) were 37.6 times and 85.0 times that of controls. The frequency of GD was similar between the first proband family members and the first and second degree relatives of the HT proband family members (17.5% vs 13.3%, 5.7% vs 5.1%), both of which were highly significant Higher than the control group (0.27%, 0.22%). 22.4% of GD probands in the pedigree of the number of ≥ 3, proband compatriots, GD prevalence was 45.9%. GD met autosomal dominant (AD) inheritance in 31 nuclear families with one or both parents. The heritability of familial GD was 122.3 ± 2.77%. Conclusion Both familial GD and HT are polygenic disease, but there is a dominant dominant gene in GD, and some pedigrees have AD inheritance. The genetic basis of GD and HT are more linked.