中国人膜联蛋白A1基因单核苷酸多态性及其与2型糖尿病的相关性

Absence of evidence for the association of single nucleotide polymorphisms in Annexin A1 gene with type 2 diabetes in Chinese

目的 筛查上海地区汉族人群中膜联蛋白 A1(annexin A1,ANXA1)基因的单核苷酸多态性 (single nucleotide polymorphisms,SNPs) ,并通过关联分析研究其与 2型糖尿病的相关性。方法 选取2 4例 2型糖尿病患者的 DNA样本 ,采用直接测序法对 ANXA1基因的启动子区、全部外显子及其临近内含子区作 SNPs筛查 ,并在其余的 171例 2型糖尿病和 189名正常对照间作进一步的基因分型。结果ANXA1基因测序长度 6 798bp,共检出 7个 SNPs,其中启动子区 2个 (- 7974 C>T,- 70 4 0 G>T) ,内含子区 3个 (+90 5 9A>G,+92 0 4 C>T,+10 4 86 A>G) ,5′-非翻译区 1个 (- 6 6 14 A>G) ,编码区 1个(+1784 A>G)。进一步的基因分型后显示这些 SNPs的等位基因频率在 2型糖尿病和正常对照组之间差异无显著性 (P>0 .0 5 )。结论 ANXA1基因多态性与上海地区汉族人群中 2型糖尿病无显著相关性。

Objective To identify single nucleotide polymorphisms(SNPs) in the annexin A1 ( ANXA1) gene and to analyze the association of these SNPs with type 2 diabetes in Shanghai Han population. Methods SNPs in the promotor and exon regions (including intron sequence near splicing site) in the ANXA1 gene were screened by direct sequencing in 24 type 2 diabetes patients and were further genotyped by direct sequencing in another 171 type 2 diabetes patients and 189 normal control subjects. Results The total sequence of ANXA1 gene is 6798 bp. And 7 SNPs were found; among them, 2 SNPs (-7974 C>T and -7040 G>T) were in promotor region, 3 SNPs in intron regions(+9059 A>G, +9204 C>T, +10486 A>G), 1 SNP in 5′-untranslation region(-6614 A>G) and 1 SNP in coding regions(+1784 A>G). These 7 SNPs were genotyped further and the results revealed that the allele frequencies of these SNPs showed no significant difference between the diabetic and the control groups (P>0 05). Conclusion There is no association of these SNPs in ANXA1 gene with type 2 diabetes in Shanghai Han population.