在中国汉族人群中进行全基因组范围的2型糖尿病易感基因搜索。

A genome-wide search for type II diabetes susceptibility genes in Chinese Hans.

作者信息

Luo T H, Zhao Y, Li G, Yuan W T, Zhao J J, Chen J L, Huang W, Luo M

机构信息

Shanghai Institute of Endocrinology, Ruijin Hospital, Shanghai Second Medical University, Shanghai, China.

出版信息

Diabetologia. 2001 Apr;44(4):501-6. doi: 10.1007/s001250051649.

DOI:10.1007/s001250051649

PMID:11357482

Abstract

AIMS/HYPOTHESIS: The aim of the study was to search for Type II (non-insulin-dependent) diabetes mellitus susceptibility genes in a Chinese population.

METHODS

A genome-wide scan was carried out using non-parametric linkage analyses. We studied 102 families (478 family members) who were Chinese Hans residing in east and south-east China, including 282 diabetic patients, among them 142 independent affected sibpairs were available for genotyping. A total of 247 fluorescence labelled microsatellite markers, with an average resolution of 15 cM, were amplified. GENEHUNTER was used for the non-parametric linkage analyses.

RESULTS

Two loci on chromosome 9 D9S171 and D9S175 showed suggestive evidence for linkage, with an NPL-score of 3.286 and 2.939 respectively, and a p value of 1.19 x 10(-4) and 4.47 x 10(-4). A locus on the long arm of chromosome 20, D20S196 showed a rise in the non-parametric-linkage score (from 1.517 to 2.922) and a corresponding decrease in the p value from 0.04 to 6.5 x 10(-4) when families with lower BMI were analysed alone. Other loci with weaker evidence for linkage were also observed.

CONCLUSIONS

Our results suggest that chromosome 9 contains genes involved in the susceptibility to Type II diabetes in an eastern and southeastern Chinese Han population, and chromosome 20 could hide genes linked to Type II diabetes in families with a lower BMI. Other regions could also hide susceptibility genes with minor effects.

摘要

目的/假设：本研究旨在在中国人群中寻找2型（非胰岛素依赖型）糖尿病易感基因。

方法

采用非参数连锁分析进行全基因组扫描。我们研究了居住在中国东部和东南部的102个中国汉族家庭（478名家庭成员），其中包括282名糖尿病患者，其中142对独立的患病同胞对可用于基因分型。共扩增了247个荧光标记的微卫星标记，平均分辨率为15厘摩。使用GENEHUNTER进行非参数连锁分析。

结果

9号染色体上的两个位点D9S171和D9S175显示出连锁的提示性证据，NPL分数分别为3.286和2.939，p值分别为1.19×10⁻⁴和4.47×10⁻⁴。当单独分析BMI较低的家庭时，20号染色体长臂上的一个位点D20S196显示非参数连锁分数上升（从1.517升至2.922），p值相应从0.04降至6.5×10⁻⁴。还观察到其他连锁证据较弱的位点。