BIOINFORMATICS-ASSISTED SELECTION AND ASSOCIATION OF MATRIX MEATLLOPROTEINASE-9 (MMP-9) POLMORPHISM rs17576 WITH DIABETIC RETINOPATHY

F. K. Alswailmi
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Abstract

Abstract Purpose: Components of inflammatory pathways had a major role in the development of diabetic induced complications including the retinopathy. Therefore, in the present study bioinformatics assisted predicted the role of polymorphism of genes in the coding sequence of inflammatory pathway mediator matrix metallopeptidase 9 (MMP9) was determined in the development of diabetic retinopathy among the population of south Asian countries. Methods: Non-synonymous single nucleotide polymorphisms (SNP) rs17576 in MMP9 (c.836A>G; p.Q279R) was bioinformatically analyzed as well as genotyping was done in 419 individuals with type 2 diabetes (219 individuals with diabetic retinopathy (DR) and 200 individuals with diabetic non-retinopathic (DNR) while 200 healthy individuals were recruited as control for both DR and DNR patients. Results: In silico assisted functional effect due to kinetic changes in protein structure was observed for MMP9 rs17576 (p.Q279R). In addition, genetic analysis revealed significant association of the “G” allele with diabetic individuals most prominently females (χ²=12.65, p<0.05, OR=0.47 [95% CI=0.30-0.73, p<0.05]) Conclusion: The rs17576 (c.836A>G; p.Q279R) polymorphism of MMP9 was found to influence protein structure and functional and was observed to provide protection, dominantly in females, against the diabetic retinopathy.
经生物分析鉴定的肉毒蛋白酶-9 (MMP-9)多态性 rs17576 与糖尿病性视网膜病变的分离与相关性研究
摘要目的:炎症通路的成分在糖尿病诱发的并发症(包括视网膜病变)的发展过程中起着重要作用。因此,本研究在生物信息学的辅助下,预测了炎症通路介质基质金属肽酶 9(MMP9)编码序列中基因的多态性在南亚国家人群糖尿病视网膜病变发展中的作用。研究方法对MMP9(c.836A>G; p.Q279R)中的非同义单核苷酸多态性(SNP)rs17576进行生物信息学分析,并对419名2型糖尿病患者(219名糖尿病视网膜病变(DR)患者和200名糖尿病非视网膜病变(DNR)患者)进行基因分型,同时招募200名健康人作为DR和DNR患者的对照:MMP9 rs17576 (p.Q279R)因蛋白质结构的动力学变化而产生的辅助功能效应在硅学中被观察到。此外,遗传分析表明,"G "等位基因与糖尿病患者(主要是女性)有显著关联(χ²=12.65,pG;p.Q279R)。
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