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Genetic association of novel SNPs in HK-1 (rs201626997) and HK-3 (rs143604141) with type 2 diabetes mellitus in Bangladeshi population
Gene ( IF 3.5 ) Pub Date : 2024-03-23 , DOI: 10.1016/j.gene.2024.148409
Md Tarikul Islam , Md Abdullah Al Mamun Khan , Shahidur Rahman , K. M. Kaderi Kibria

Hexokinase, a key enzyme in glycolysis, has isoforms like HK-1, HK-2, HK-3, and Glucokinase. Unpublished exome sequencing data showed that two novel polymorphisms in HK-1 rs201626997 (G/T) and HK-3 rs143604141 (G/A) exist in the Bangladeshi population. We investigated the possible relationship of these SNPs with T2DM. Peripheral blood samples from the study participants were used to isolate their genomic DNA. An allele-specific PCR was standardized that can discriminate between the wild-type and mutant-type alleles of HK-1 (rs201626997) and HK-3 (rs143604141) polymorphisms. The data was analyzed by SPSS for statistics. We performed allele-specific PCR for 249 diabetic patients and 195 control samples. For HK-1 (rs201626997), 24 (5.4%) have a mutant allele, and for HK-3 (rs143604141), 25 (5.6%) are mutant. There is no significant relationship between the individuals' disease condition and the HK-1 polymorphism ( value 0.537). But the GA genotype of the HK-3 rs143604141 pertains to an increased risk of diabetes ( value 0.039). HK-3 rs143604141 polymorphism has a moderate correlation ( value 0.078, OR, 3.11, 95% CI, 0.88–10.94) with a family diabetic history. Both polymorphisms showed no significant correlation with gender or BMI. However, hexokinase-1 polymorphism significantly related with diastolic blood pressure ( value 0.048). This study will help us to easily detect the polymorphisms of HK-1 (rs201626997) and HK-3 (rs143604141) in different populations of the world. Further studies with a greater number of participants and more physiological information are required to better understand the underlying genetic causes of T2DM susceptibility in Bangladesh.

中文翻译:

HK-1 (rs201626997) 和 HK-3 (rs143604141) 中的新 SNP 与孟加拉国人群 2 型糖尿病的遗传关联

己糖激酶是糖酵解中的关键酶,具有 HK-1、HK-2、HK-3 和葡萄糖激酶等亚型。未发表的外显子组测序数据显示,孟加拉国人群中存在 HK-1 rs201626997 (G/T) 和 HK-3 rs143604141 (G/A) 两个新的多态性。我们研究了这些 SNP 与 T2DM 的可能关系。研究参与者的外周血样本被用来分离他们的基因组 DNA。等位基因特异性 PCR 已标准化,可区分 HK-1 (rs201626997) 和 HK-3 (rs143604141) 多态性的野生型和突变型等位基因。数据通过SPSS进行分析统计。我们对 249 名糖尿病患者和 195 名对照样本进行了等位基因特异性 PCR。对于 HK-1 (rs201626997),24 个 (5.4%) 具有突变等位基因,而对于 HK-3 (rs143604141),25 个 (5.6%) 具有突变等位基因。个体的疾病状况与HK-1多态性(值0.537)之间没有显着关系。但 HK-3 rs143604141 的 GA 基因型与糖尿病风险增加有关(值 0.039)。 HK-3 rs143604141 多态性与家族糖尿病史具有中度相关性(值 0.078,OR,3.11,95% CI,0.88–10.94)。两种多态性均与性别或体重指数没有显着相关性。然而,hexokinase-1 多态性与舒张压显着相关(值为 0.048)。这项研究将帮助我们轻松检测世界不同人群中HK-1(rs201626997)和HK-3(rs143604141)的多态性。需要对更多的参与者和更多的生理信息进行进一步的研究,以更好地了解孟加拉国 T2DM 易感性的潜在遗传原因。
更新日期:2024-03-23
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