摘要
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 TostudytheinheritantmodeoffamilialGraves' disease (GD) and Hashimoto's thyroiditis (HT) and its relation to the thyroid disease. Methods According to WHO criteria of thyroid diseases, probands of 281 Graves' disease and 82 Hashimoto's thyroiditis with family history of autoimmune thyroid disease and 800 sex and age matched controls were subjected to study. The survey of thyroid diseases was performed in these groups, including inquiry of medical history, physical examination, thyroid function test. Results The prevalance rates of GD or HT in the GD proband pedigree group were 93.3 and 5.7 times of the control group, respectively (19.6% vs 0.21%, 0.8% vs 0.14%); the prevalance rates of GD or HT in the HT probandpedigreegroupwere37.6and 85.0 time of the control group, respetively (7.9% vs 0.21%, 11.9% vs 0.14%); the prevalance rates of GD in the first and second degree relatives of GD and HT proband were similar (17.5%and 13.3%, 5.7% and 5.1%), but both were much higher than that in controls (0.27%, 0.22%). With GD and HT patients≥3 in 22.4% of GD proband families, the rate of GD in the siblings was 45.9%. The heritability of GD was 122.3±2.77%. Conclusion GD and HT are polygenic diseases and the relative risks are higher in patients' families. One major gene may influence the genesis of GD and there are also subgroups of autosomal dominant inheritance in GD.
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
1998年第5期305-308,共4页
Chinese Journal of Endocrinology and Metabolism
关键词
GRAVES病
桥本病
遗传学
家系调查
Graves' disease Hashimoto's thyroiditis Genetics Pedigree investigation
