Single nucleotide polymorphisms in the proximal promoter region of the adiponectin (APM1) gene are associated with type 2 diabetes in Swedish Caucasians
Single nucleotide polymorphisms in the proximal promoter region of the adiponectin (APM1) gene are associated with type 2 diabetes in Swedish Caucasians
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DOI：
10.2337/diabetes.53.2007.s31
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发表时间：
2004-02-01
期刊：
影响因子：
7.7
通讯作者：
Efendic, S
中科院分区：
文献类型：
--
作者：
Gu, HF;Abulaiti, A;Efendic, S
脂联素（APM 1）是一种脂肪细胞衍生肽。APM 1基因位于染色体3q 27上，与2型糖尿病有关。在2型糖尿病患者中，血浆中的脂联素水平与健康受试者相比降低。为了确定导致2型糖尿病发生的APM 1基因的遗传缺陷，我们采用动态等位基因特异性杂交（DASH）对106例2型糖尿病患者、325例糖耐量受损（IGT）患者和497例非糖尿病对照组瑞典高加索人的13个单核苷酸多态性（SNP）进行了基因分型。结果发现，在2型糖尿病患者和非糖尿病对照组中，近端启动子区-11426（A/G）和-11377（G/C）的SNPs等位基因频率差异有统计学意义（分别为P = 0.02和P = 0.04）。SNP-11426（A/G）与2型糖尿病患者（P = 0.02）和IGT受试者（P = 0.04）的空腹血糖显著相关，而SNP-11377（G/C）携带CC和CG基因型的患者的BMI高于GG基因型的患者（P = 0.03）。在APM 1基因的13个单核苷酸多态性的单倍型分析表明，在瑞典高加索人的单倍型频率的估计是相似的估计在法国高加索人。然而，在我们的研究中没有检测到单倍型与2型糖尿病和IGT的显著关联。目前的研究提供了额外的证据表明，在APM 1基因的近端启动子区域的SNPs有助于2型糖尿病的发展。糖尿病53（补编1）：S31-S35，2004年。
Adiponectin (APM1) is an adipocyte-derived peptide. The APM1 gene is located on chromosome 3q27 and linked to type 2 diabetes. In patients with type 2 diabetes, the adiponectin level in plasma is decreased in comparison to healthy subjects. To identify genetic defects of the APM1 gene that contribute to the development of type 2 diabetes, we genotyped 13 single nucleotide polymorphisms (SNPs) in 106 patients with type 2 diabetes, 325 patients with impaired glucose tolerance (IGT), and 497 nondiabetic control subjects in Swedish Caucasians by using dynamic allele-specific hybridization (DASH). We found that SNPs -11426(A/G) and -11377(G/C) in the proximal promoter region had significant differences of allele frequencies between type 2 diabetic patients and nondiabetic control subjects (P = 0.02 and P = 0.04, respectively). SNP-11426(A/G) was significantly associated with fasting plasma glucose in type 2 diabetic patients (P = 0.02) and in IGT subjects (P = 0.04), while the patients carrying CC and CG genotypes for SNP-11377(G/C) had a higher BMI than the patients with the GG genotype (P = 0.03). Haplotype analysis of 13 SNPs in the APM1 gene showed that estimates of haplotype frequencies in Swedish Caucasians are similar to those estimated in French Caucasians. However, no significant association of haplotypes with type 2 diabetes and IGT was detected in our study. The present study provides additional evidence that SNPs in the proximal promoter region of the APM1 gene contribute to the development of type 2 diabetes. Diabetes 53 (Suppl. 1):S31-S35, 2004.