X-Chromosome Gene Dosage and the Risk of Diabetes in Turner Syndrome
X-Chromosome Gene Dosage and the Risk of Diabetes in Turner Syndrome
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DOI：
10.1210/jc.2009-0384
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发表时间：
2009-09-01
影响因子：
5.8
通讯作者：
Bondy, Carolyn A.
中科院分区：
文献类型：
--
作者：
Bakalov, Vladimir K.;Cheng, Clara;Bondy, Carolyn A.
研究背景：Turner综合征（TS）是由第二性染色体缺失或断裂引起的。糖尿病（DM）的风险增加一直注意到，但这种特质的具体表型和遗传病因是unknown.Methods：在一项前瞻性研究中，我们研究了DM的患病率在美国国立卫生研究院（NIH）TS研究的成年参与者。结果进行了分析方面的核型，年龄，体重指数（BMI），和自身免疫指标。比较了年龄和BMI匹配的血糖正常的TS女性和健康女性对照组的胰岛素敏感性和分泌。结果：224例TS患者中有56例（25%）存在2型糖尿病，1型糖尿病仅见于1例（25%），2型糖尿病仅见于1例（25%）。
Background: Turner syndrome (TS) is caused by the absence or fragmentation of the second sex chromosome. An increased risk of diabetes mellitus (DM) has consistently been noted, but the specific phenotype and genetic etiology of this trait are unknown.Methods: In a prospective study, we examined the prevalence of DM in adult participants in an intramural National Institutes of Health (NIH) TS study. Results were analyzed with respect to karyotype, age, body mass index (BMI), and autoimmune indices. Insulin sensitivity and secretion were compared in age-and BMI-matched euglycemic women with TS and healthy female controls. We compared gene expression profiles in lymphocytes from differentially affected TS groups.Results: Type 2 DM was present in 56 of 224 (25%) of the women with TS; type 1 DM was found in only one woman (