Abstract：
Background: Aldosterone synthase (CYP11B2) is crucial for aldosterone production, and variations in its gene may influence type 2 diabetes mellitus (T2DM) development. This study explores the link between two single nucleotide polymorphisms (SNPs) in the CYP11B2 gene - -344T/C and K173R and T2DM in the Moroccan population . Methods: The research involved 86 individuals with T2DM and 75 control subjects. Genotyping for the -344T/C and K173R SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis . Result: Results indicated significant differences in the genotype and allelic distribution of the CYP11B2 K173R polymorphism between T2DM patients and control subjects, with P-values of 0.02 and 0.04, respectively. The -344T/C polymorphism showed no significant genomic level differences, but its allelic variations were statistically significant (P=0.01), indicating a notable association between the C allele and T2DM. Furthermore, the K173R polymorphism was found to significantly increase T2DM risk, with a 2.34-fold higher risk in individuals carrying the KR genotype. The study also examined the combined effect of these SNPs. The dominant model analysis (TT vs. TC+CC and KK vs. KR+RR) showed significant differences between T2DM patients and controls for both SNPs. Additionally, a haplotype-based analysis revealed that the C-R haplotype was associated with an increased risk of T2DM. Conclusion: Our study suggests a significant association between the CYP11B2-K173R polymorphism and T2DM in the Moroccan population. Conversely, while the CYP11B2 -344T/C polymorphism exhibits a significant difference in allelic distribution, no significant difference is observed at the genomic level.
摘要：
背景:醛固酮合成酶(CYP11B2)是醛固酮生产的关键,其基因变异可能影响2型糖尿病（T2DM）的发展。这项研究探讨了摩洛哥人群中CYP11B2基因--344T/C中两个单核苷酸多态性（SNP）与K173R和T2DM之间的联系。方法：该研究涉及86名T2DM患者和75名对照受试者。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析对-344T/C和K173RSNP进行基因分型。结果：结果表明，T2DM患者与对照组之间CYP11B2K173R多态性的基因型和等位基因分布存在显着差异。P值分别为0.02和0.04。-344T/C多态性在基因组水平上无显著差异,但其等位基因差异有统计学意义（P=0.01），表明C等位基因与T2DM之间存在显著关联。此外，发现K173R多态性显着增加T2DM风险，携带KR基因型的个体风险高2.34倍。该研究还检查了这些SNP的联合作用。主导模型分析(TT与TC+CC和KKvs.KR+RR）在T2DM患者和对照组之间显示两种SNP的显着差异。此外,基于单倍型的分析显示,C-R单倍型与T2DM风险增加相关.结论：我们的研究表明，在摩洛哥人群中，CYP11B2-K173R多态性与T2DM之间存在显著关联。相反，而CYP11B2-344T/C多态性在等位基因分布上表现出显著差异，在基因组水平上没有观察到显著差异。
