钙蛋白酶 10 基因变异与爱尔兰样本 2 型糖尿病的单体型关联。

Haplotype association of calpain 10 gene variants with type 2 diabetes mellitus in an Irish sample.

机构信息

Department of Endocrinology, Connolly Hospital, Blanchardstwon, Dublin 15, Ireland.

出版信息

Ir J Med Sci. 2010 Jun;179(2):269-72. doi: 10.1007/s11845-010-0462-x. Epub 2010 Feb 2.

DOI:10.1007/s11845-010-0462-x

PMID:20119856

Abstract

BACKGROUND

Calpain 10 (CAPN10) gene may contribute to the pathogenesis of type 2 diabetes mellitus (T2DM).

AIM

To examine the contribution of four CAPN10 gene variants to T2DM risk in an Irish sample.

METHODS

Genotyping of marker 19 insertion-deletion (ins/del) and three CAPN10 variants, rs3792267, rs3749166 and rs5030952 at the CAPN10 gene was performed in 236 T2DM subjects and 120 controls. Allelic, genotypic and haplotype comparisons were conducted between the groups.

RESULTS

In the examined markers, no significant differences were observed although the deletion/deletion allele tended to be more common in T2DM subjects (chi(2) = 3.2, P = 0.07). A significant overrepresentation of a haplotype comprising (rs3792267), (19) and rs3749166 (chi(2) = 5.3, P = 0.021) was seen in T2DM subjects. Two protective haplotypes were detected: (G-ins-G) of (rs3792267), (19) and rs3749166 (chi(2) = 6.7, P = 0.009) and (ins-G-C) of (19), (rs3749166) and rs5030952 (chi(2) = 8.5, P = 0.003).

CONCLUSIONS

CAPN10 gene variants may affect T2DM susceptibility in the Irish population.

摘要

背景

钙蛋白酶 10（CAPN10）基因可能与 2 型糖尿病（T2DM）的发病机制有关。

目的

在爱尔兰人群中研究 CAPN10 基因的四个变体对 T2DM 风险的贡献。

方法

对 236 例 T2DM 患者和 120 例对照者的 CAPN10 基因标记 19 插入缺失（ins/del）和三个 CAPN10 变体 rs3792267、rs3749166 和 rs5030952 进行基因分型。对两组间的等位基因、基因型和单倍型进行比较。

结果

在所检查的标记物中，尽管缺失/缺失等位基因在 T2DM 患者中更为常见（chi(2) = 3.2，P = 0.07），但未观察到显著差异。在 T2DM 患者中，一种包含(rs3792267)、(19)和 rs3749166 的单倍型（chi(2) = 5.3，P = 0.021）显著过表达。检测到两种保护性单倍型：(rs3792267)、(19)和 rs3749166 的(G-ins-G)（chi(2) = 6.7，P = 0.009）和(19)、rs3749166 和 rs5030952 的(ins-G-C)（chi(2) = 8.5，P = 0.003）。