HHEX常见单核苷酸多态性与2型糖尿病的关联。
Association of common single-nucleotide polymorphism of HHEX with type 2 diabetes mellitus.
作者信息
Hasti Saeedeh, Mirfeizi Mani, Afshari Mahdi, Hasanzad Mandana, Moghadam Farhad Adhami, Aghaei Meybodi Hamid Reza
机构信息
Medical Genomics Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
J Diabetes Metab Disord. 2024 Apr 18;23(1):1183-1187. doi: 10.1007/s40200-024-01407-5. eCollection 2024 Jun.
BACKGROUND
Type 2 diabetes mellitus (T2DM) is a complex metabolic disease that occurs as a result of insulin resistance and low insulin production. T2DM involves many organ systems that include macro-vascular and micro-vascular complications. Several genome-wide association studies (GWAS) and candidate gene studies have suggested a large number of single nucleotide polymorphisms (SNPs) on several genes such as that were associated with T2DM susceptibility. The current study aims to look at the relationship between the risk of T2DM and the HHEX gene variant rs7923837.
METHODS
In this case-control study genotyping of rs7923837 of the gene was performed using the PCR-RFLP and Sanger sequencing method.
RESULTS
Frequencies of GG genotype of rs7923837 polymorphism of among subjects with and without diabetes mellitus were 33.77% and 25.47% respectively. Corresponding prevalence for the AG genotype was 51.08% and 64.15% among subjects with and without diabetes mellitus respectively. The differences were not statistically significant ( = 0.08).
CONCLUSION
Our study revealed that polymorphisms rs7923837 of were not associated with T2DM.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s40200-024-01407-5.
背景
2型糖尿病（T2DM）是一种复杂的代谢性疾病，由胰岛素抵抗和胰岛素分泌不足引起。T2DM涉及多个器官系统，包括大血管和微血管并发症。多项全基因组关联研究（GWAS）和候选基因研究表明，多个基因上的大量单核苷酸多态性（SNP）与T2DM易感性相关。本研究旨在探讨T2DM风险与HHEX基因变异rs7923837之间的关系。
方法
在本病例对照研究中，采用PCR-RFLP和Sanger测序法对该基因的rs7923837进行基因分型。
结果
糖尿病患者和非糖尿病患者中rs7923837多态性的GG基因型频率分别为33.77%和25.47%。糖尿病患者和非糖尿病患者中AG基因型的相应患病率分别为51.08%和64.15%。差异无统计学意义（P = 0.08）。
结论
我们的研究表明，该基因的rs7923837多态性与T2DM无关。
补充信息
在线版本包含可在10.1007/s40200-024-01407-5获取的补充材料。
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