Elsaid Hanaa H, El-Hefnawy Khaled A, Elalawi Saffaa M
Clinical Pathology Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Internal Medicine Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
Indian J Clin Biochem. 2021 Apr;36(2):213-220. doi: 10.1007/s12291-020-00890-w. Epub 2020 May 14.
Homocysteine concentration affected by the activities of the enzymes methylene tetra-hyrdofolate reductase (MTHFR). Polymorphisms in gene associated with an impairment of MTHFR activity. Hyperhomocysteinemia is a result of single nucleotide polymorphisms (SNPs) in > that can cause homocysteine levels in the blood to increase. The purpose of this study is to investigate the relationships between (rs1801133) gene polymorphism, changes in homocysteine concentrations and progress of renal impairment in young adult hypertensive patients. Two hundred young hypertensive patients (age 21-24 years) were involved in this study; they were classified into patients with and without renal impairment in addition to 200 age and sex matched healthy controls. All participants were submitted to laboratory investigations as assay of gene polymorphism (rs1801133) by PCR/RFLP, determination of lipid profile, homocysteine and folic acid concentrations in addition to urinary albumin creatinine ratio (UACR). The levels of both homocysteine and UACR in the genotype patients were higher than those in the genotype group. Individuals who carry the allele were more risky to hypertension and progress to early renal impairment in young age compared with those carrying the allele [OR 2.02 (1.33-3.08), < 0.001]. Genetic variants of gene and hyperhomocysteinemia may be responsible for rapid progress of renal impairment in Egyptian young age hypertensive patients. genotype or allele may be considered as a predisposing factor for both elevated Hcy levels and the development of renal impairment. This study believed that lowering of homocysteine level can reduce renal impairment of hypertensive patients.
同型半胱氨酸浓度受亚甲基四氢叶酸还原酶（MTHFR）的酶活性影响。与MTHFR活性受损相关的基因存在多态性。高同型半胱氨酸血症是由于某些单核苷酸多态性（SNP）导致血液中同型半胱氨酸水平升高的结果。本研究的目的是调查年轻成年高血压患者中（rs1801133）基因多态性、同型半胱氨酸浓度变化与肾功能损害进展之间的关系。本研究纳入了200名年轻高血压患者（年龄21 - 24岁）；除了200名年龄和性别匹配的健康对照者外，他们被分为有肾功能损害和无肾功能损害的患者。所有参与者均接受实验室检查，包括通过聚合酶链反应/限制性片段长度多态性（PCR/RFLP）检测（rs1801133）基因多态性、测定血脂谱、同型半胱氨酸和叶酸浓度以及尿白蛋白肌酐比值（UACR）。基因型患者的同型半胱氨酸和UACR水平均高于基因型组。与携带等位基因的个体相比，携带等位基因的个体患高血压以及在年轻时进展为早期肾功能损害的风险更高[比值比（OR）2.02（1.33 - 3.08），P < 0.001]。基因的遗传变异和高同型半胱氨酸血症可能是埃及年轻高血压患者肾功能损害快速进展的原因。基因型或等位基因可能被视为高同型半胱氨酸水平升高和肾功能损害发展的一个易感因素。本研究认为降低同型半胱氨酸水平可减轻高血压患者的肾功能损害。
