Physiology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Clinical and Chemical Pathology Department, Faculty of Medicine, Suez Canal University, Ismailia, Egypt.
Diabetes Metab Res Rev. 2020 Jul;36(5):e3299. doi: 10.1002/dmrr.3299. Epub 2020 Feb 27.
Diabetic nephropathy (DN) is the most common cause of end stage renal failure or even death among patients with type 2 diabetes mellitus. Genetic predisposition is widely studied among these patients to identify manageable aspects of the disease pathogenesis. This study was carried out to test the association of engulfment and cell motility 1 (ELMO1) gene polymorphism with DN among Egyptians. ELMO1 is required for phagocytosis of apoptotic cells and cell motility.
This case-control study was conducted on type 2 diabetic patients who attended Suez Canal University Hospital, Egypt, between November 2016 and October 2017. Peripheral blood was collected from 200 diabetic patients (without nephropathy), 200 patients with DN, and 100 healthy controls for DNA extraction. The single nucleotide polymorphism of ELMO1 (rs741301) was genotyped using real-time polymerase chain reaction and the allele discrimination technique.
GG genotype was significantly associated with DN (odds ratio [OR] = 2.7; 95% confidence interval [CI]: 1.4-5.3) (P = .016). The OR for the high-risk allele (G) was 1.9 with 95% CI from 1.5 to 2.9 (P < .001).
ELMO1 gene (rs741301) polymorphism is a candidate variant in the predisposition to DN.
糖尿病肾病（DN）是 2 型糖尿病患者终末期肾衰竭甚至死亡的最常见原因。遗传易感性在这些患者中被广泛研究，以确定疾病发病机制中可管理的方面。本研究旨在检验吞噬和细胞运动蛋白 1（ELMO1）基因多态性与埃及人 DN 之间的关联。ELMO1 是吞噬凋亡细胞和细胞运动所必需的。
本病例对照研究于 2016 年 11 月至 2017 年 10 月在埃及苏伊士运河大学医院进行，纳入 200 例 2 型糖尿病患者（无肾病）、200 例 DN 患者和 100 例健康对照者，采集外周血用于 DNA 提取。采用实时聚合酶链反应和等位基因鉴别技术对 ELMO1（rs741301）单核苷酸多态性进行基因分型。
GG 基因型与 DN 显著相关（比值比[OR] = 2.7；95%置信区间[CI]：1.4-5.3）（P =.016）。高危等位基因（G）的 OR 为 1.9，95%CI 为 1.5-2.9（P < .001）。
ELMO1 基因（rs741301）多态性是 DN 易感性的候选变异。
