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Association analysis of calpain 10 gene variants/haplotypes with gestational diabetes mellitus among Mexican women

机译:墨西哥妇女妊娠期糖尿病患者胰岛素10基因变种/单倍型的关联分析

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Gestational diabetes mellitus (GDM) is a metabolically complex disease with major genetic determinants. GDM has been associated with insulin resistance and dysfunction of pancreatic beta cells, so the GDM candidate genes are those that encode proteins modulating the function and secretion of insulin, such as that for calpain 10 (CAPN10). This study aimed to assess whether single nucleotide polymorphism (SNP)-43, SNP-44, SNP-63, and the indel-19 variant, and specific haplotypes of the CAPN10 gene were associated with gestational diabetes mellitus. We studied 116 patients with gestational diabetes mellitus and 83 women with normal glucose tolerance. Measurements of anthropometric and biochemical parameters were performed. SNP-43, SNP-44, and SNP-63 were identified by polymerase chain reaction (PCR)-restriction fragment length polymorphisms, while the indel-19 variant was detected by TaqMan qPCR assays. The allele, genotype, and haplotype frequencies of the four variants did not differ significantly between women with gestational diabetes mellitus and controls. However, in women with gestational diabetes mellitus, glucose levels were significantly higher bearing the 3R/3R genotype than in carriers of the 3R/2R genotype of the indel-19 variant (p = 0.006). In conclusion, the 3R/3R genotype of the indel-19 variant of the CAPN-10 gene influenced increased glucose levels in these Mexican women with gestational diabetes mellitus.
机译:妊娠期糖尿病(GDM)是一种代谢复杂的疾病,具有主要的遗传决定因素。GDM与胰岛素抵抗和胰腺β细胞功能障碍有关,因此GDM候选基因是那些编码调节胰岛素功能和分泌的蛋白质的基因,例如calpain 10(CAPN10)。本研究旨在评估单核苷酸多态性(SNP)-43、SNP-44、SNP-63和indel-19变体,以及CAPN10基因的特定单倍型是否与妊娠期糖尿病相关。我们研究了116名妊娠期糖尿病患者和83名糖耐量正常的女性。进行人体测量和生化参数测量。SNP-43、SNP-44和SNP-63通过聚合酶链反应(PCR)-限制性片段长度多态性进行鉴定,而indel-19变体通过TaqMan qPCR检测。妊娠期糖尿病妇女和对照组之间,这四种变体的等位基因、基因型和单倍型频率没有显著差异。然而,在妊娠期糖尿病妇女中,3R/3R基因型的血糖水平显著高于indel-19变体3R/2R基因型携带者(p=0.006)。总之,CAPN-10基因indel-19变体的3R/3R基因型影响了这些墨西哥妊娠期糖尿病妇女的血糖水平升高。

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