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西班牙裔家族中代谢综合征与1q23 - q31的连锁关系:胰岛素抵抗动脉粥样硬化研究家族研究

Linkage of the metabolic syndrome to 1q23-q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study Family Study.

作者信息

Langefeld Carl D, Wagenknecht Lynne E, Rotter Jerome I, Williams Adrienne H, Hokanson John E, Saad Mohammad F, Bowden Donald W, Haffner Stephen, Norris Jill M, Rich Stephen S, Mitchell Braxton D

机构信息

Department of Public Health Sciences, Wake Forest University Health Sciences, Winston-Salem, North Carolina 27157-1063, USA.

出版信息

Diabetes. 2004 Apr;53(4):1170-4. doi: 10.2337/diabetes.53.4.1170.

Abstract

The metabolic syndrome is characterized by central obesity, dyslipidemia, elevated blood pressure, and hyperglycemia. The Insulin Resistance Atherosclerosis Study (IRAS) Family Study recruited extended pedigrees of Hispanic descent from San Antonio, TX (SA) and San Luis Valley, CO (SLV). Thirty-five of these pedigrees (27 SA and 8 SLV) had at least 2 individuals with metabolic syndrome (216 affected individuals and 563 affected relative pairs). The prevalence of metabolic syndrome and component criteria in subjects from these pedigrees were 35% metabolic syndrome, 43% increased waist circumference, 31% hypertriglyceridemia, 69% low HDL cholesterol, 31% increased blood pressure, and 25% either increased fasting glucose or presence of diabetes. Nonparametric linkage analysis provided evidence for linkage of metabolic syndrome to 1q23-q31 (D1S518; logarithm of odds [LOD] 1.6) with significant site heterogeneity (SA LOD 2.6 and SLV LOD 0.0), and removing all individuals with diabetes reduced, but did not eliminate, the evidence for linkage to this region (LOD 1.2). This heterogeneity may partially be explained by phenotypic differences. Members in the SA pedigrees were older, had greater central obesity, had higher prevalence of the metabolic syndrome, and were from a more urban environment than members of the SLV pedigrees. These results contribute to the growing evidence that chromosome 1q harbors at least one locus related to the metabolic precursors of diabetes.

摘要

代谢综合征的特征为中心性肥胖、血脂异常、血压升高和血糖升高。胰岛素抵抗动脉粥样硬化研究(IRAS)家族研究从德克萨斯州圣安东尼奥市(SA)和科罗拉多州圣路易斯谷(SLV)招募了西班牙裔血统的扩展家系。这些家系中有35个(27个来自SA,8个来自SLV)至少有2名患有代谢综合征的个体(216名受影响个体和563对受影响的亲属对)。这些家系中受试者的代谢综合征及各组分标准的患病率分别为:代谢综合征35%、腰围增加43%、高甘油三酯血症31%、高密度脂蛋白胆固醇降低69%、血压升高31%,空腹血糖升高或患有糖尿病25%。非参数连锁分析为代谢综合征与1q23 - q31(D1S518;优势对数[LOD] 1.6)的连锁提供了证据,存在显著的位点异质性(SA的LOD为2.6,SLV的LOD为0.0),去除所有糖尿病个体后,与该区域连锁的证据有所减少,但并未消除(LOD 1.2)。这种异质性可能部分由表型差异解释。SA家系中的成员年龄更大,中心性肥胖更严重,代谢综合征患病率更高,且比SLV家系的成员来自更城市化的环境。这些结果为越来越多的证据提供了支持,即1号染色体上至少有一个与糖尿病代谢前体相关的基因座。

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