Sarray Sameh, Dallel Meriem, Lamine Laila Ben, Jairajpuri Deeba, Sellami Nejla, Turki Amira, Malalla Zainab, Brock Roland, Ghorbel Mohamed, Mahjoub Touhami
Department of Medical Biochemistry, Arabian Gulf University, Manama, Bahrain; Faculty of Sciences, University Tunis EL Manar, 2092 Manar II, Tunisia.
Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir, University of Monastir, Tunisia.
J Diabetes Complications. 2021 Jun;35(6):107908. doi: 10.1016/j.jdiacomp.2021.107908. Epub 2021 Mar 16.
Genetic variations mediating MMP-2 expression may result in individual differences in susceptibility to particular diseases. Our aim was to investigate the possible association of certain MMP-2 gene variants with the susceptibility of type 2 diabetes (T2D) in a Tunisian population.
A retrospective case-control study involving 310 normoglycemic control subjects and 791 T2D patients was conducted. Genotyping of MMP-2 variants was performed by real time PCR.
Minor allele frequencies (MAF) of the rs243865 and the rs243866 MMP-2, were significantly different between T2D cases and controls. Setting homozygous wild-type genotype carrier as reference, a reduced risk of T2D was seen with the rs243865 and the rs243866 genotypes. Haploview analysis revealed limited linkage disequilibrium between the tested MMP-2 and variants, with most haplotypes (99.5%) captured by 7 MMP-2 haplotypes. Taking the GCCC haplotype as reference for MMP-2 (OR = 1.00), a reduced frequency of TTCC haplotypes (P = 0.04) and the GTCC haplotype (P = 3.5 · 10) was noted in T2D which indicates a protective nature of these two haplotypes for T2D development.
To the best of our knowledge, the present study is the first to demonstrate a consistent association of the rs243865 and rs243866 genotype with a protection for T2D.
介导基质金属蛋白酶-2（MMP-2）表达的基因变异可能导致个体对特定疾病易感性的差异。我们的目的是在突尼斯人群中研究某些MMP-2基因变异与2型糖尿病（T2D）易感性之间的可能关联。
进行了一项回顾性病例对照研究，纳入310名血糖正常的对照者和791名T2D患者。通过实时聚合酶链反应对MMP-2变异进行基因分型。
T2D病例组和对照组之间，MMP-2的rs243865和rs243866的次要等位基因频率（MAF）存在显著差异。以纯合野生型基因型携带者为参照，rs243865和rs243866基因型的T2D风险降低。Haploview分析显示，所检测的MMP-2与变异之间的连锁不平衡有限，7种MMP-2单倍型捕获了大多数单倍型（99.5%）。以MMP-2的GCCC单倍型为参照（OR = 1.00），在T2D中观察到TTCC单倍型（P = 0.04）和GTCC单倍型（P = 3.5·10）的频率降低，这表明这两种单倍型对T2D发展具有保护作用。
据我们所知，本研究首次证明rs243865和rs243866基因型与对T2D的保护作用存在一致关联。
