一项针对人类非胰岛素依赖型（2型）糖尿病基因的全基因组搜索在2号染色体上发现了一个主要的易感位点。

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

作者信息

Hanis C L, Boerwinkle E, Chakraborty R, Ellsworth D L, Concannon P, Stirling B, Morrison V A, Wapelhorst B, Spielman R S, Gogolin-Ewens K J, Shepard J M, Williams S R, Risch N, Hinds D, Iwasaki N, Ogata M, Omori Y, Petzold C, Rietzch H, Schröder H E, Schulze J, Cox N J, Menzel S, Boriraj V V, Chen X, Lim L R, Lindner T, Mereu L E, Wang Y Q, Xiang K, Yamagata K, Yang Y, Bell G I

机构信息

Human Genetics Center, University of Texas Health Science Center at Houston 77030, USA.

出版信息

Nat Genet. 1996 Jun;13(2):161-6. doi: 10.1038/ng0696-161.

DOI:10.1038/ng0696-161

PMID:8640221

Abstract

Non-insulin-dependent (type 2) diabetes mellitus (NIDDM) is a common disorder of middle-aged individuals characterized by high blood glucose levels which, if untreated, can cause serious medical complications and lead to early death. Genetic factors play an important role in determining susceptibility to this disorder. However, the number of genes involved, their chromosomal location and the magnitude of their effect on NIDDM susceptibility are unknown. We have screened the human genome for susceptibility genes for NIDDM using non-and quasi-parametric linkage analysis methods in a group of Mexican American affected sib pairs. One marker, D2S125, showed significant evidence of linkage to NIDDM and appears to be a major factor affecting the development of diabetes mellitus in Mexican Americans. We propose that this locus be designated NIDDM1.

摘要

非胰岛素依赖型（2型）糖尿病（NIDDM）是中年人的一种常见病症，其特征为血糖水平升高，若不加以治疗，可引发严重的医学并发症并导致过早死亡。遗传因素在决定对该病症的易感性方面起着重要作用。然而，涉及的基因数量、它们在染色体上的位置以及它们对NIDDM易感性的影响程度尚不清楚。我们使用非参数和准参数连锁分析方法，在一组患NIDDM的墨西哥裔美国同胞对中，对人类基因组进行了NIDDM易感基因筛查。一个标记物D2S125显示出与NIDDM存在显著连锁证据，并且似乎是影响墨西哥裔美国人糖尿病发展的一个主要因素。我们提议将这个基因座命名为NIDDM1。