Hamdan Almaeen Abdulrahman, Mostafa-Hedeab Gomaa
Pathology Department, Medical College, Jouf University, Sakaka, Kingdom of Saudi Arabia.
Pharmacology Department, Health Sciences Research Unit, Medical College, Jouf University, Sakaka, Kingdom of Saudi Arabia.
Pharmgenomics Pers Med. 2021 Aug 27;14:1055-1068. doi: 10.2147/PGPM.S311181. eCollection 2021.
This is the first cross-sectional study studying the changes in haematological indicators of the response to recombinant human erythropoietin (rHuEPO) therapy in chronic renal failure (CRF) patients on haemodialysis (HD) stratified according to ACE G2350A (rs4343) gene polymorphism.
An observational cross-sectional study.
Nephrology department and Biochemistry and molecular biology department, faculty of medicine, Cairo University.
A total of 256 CRF patients on HD for at least six months (162 male and 103 female) and 160 healthy subjects (122 male and 38 female) were recruited in the current study after signing a consent form. ACE G2350A (rs4343) Insertion/Deletion (I/D) was tested, the association between ACE G2350A (RS4343) gene polymorphisms and patients response to rHuEpo was evaluated.
ACE G2350A (rs4343) I/D was the most prevalent genotype, while I/I genotype was the lowest prevalent among patient or control subjects included in the study. D allele is the most prevalent allele, either among patients or the control group. Hemoglobin (Hb) level in patients with I/I and Deletion/Deletion (D/D) genotype was significantly higher compared to those with I/D genotype (P = 0.012 and P = 0.005, respectively). Serum iron in the I/D genotype was significantly higher than those with either I/I or D/D genotype (P = 0.045 and P = 0.018, respectively). Angiotensin-converting enzyme (ACE) content, total leukocytic count (TLC), and soluble erythropoietin receptor (sEpoR) were independent predictors of Hb level. The ACE gene, TLC, and serum iron were the independent factors that may affect the Haematocrit (Hct) level. ACE G2350A (rs4343) gene polymorphisms may affect the HD patient's responses to rHuEPOs.
In HD patients, screening for ACE G2350A (rs4343) gene polymorphisms before rHuEpo administration may help predict patient response.
这是第一项横断面研究，旨在研究根据ACE G2350A（rs4343）基因多态性分层的慢性肾衰竭（CRF）血液透析（HD）患者对重组人促红细胞生成素（rHuEPO）治疗反应的血液学指标变化。
一项观察性横断面研究。
开罗大学医学院肾病科以及生物化学与分子生物学系。
本研究共招募了256例接受HD至少6个月的CRF患者（162例男性和103例女性）以及160例健康受试者（122例男性和38例女性），所有受试者均签署了知情同意书。检测ACE G2350A（rs4343）插入/缺失（I/D）情况，评估ACE G2350A（RS4343）基因多态性与患者对rHuEpo反应之间的关联。
ACE G2350A（rs4343）I/D是最常见的基因型，而I/I基因型在研究纳入的患者或对照受试者中是最不常见的。D等位基因无论是在患者还是对照组中都是最常见的等位基因。I/I和缺失/缺失（D/D）基因型患者的血红蛋白（Hb）水平显著高于I/D基因型患者（分别为P = 0.012和P = 0.005）。I/D基因型患者的血清铁显著高于I/I或D/D基因型患者（分别为P = 0.045和P = 0.018）。血管紧张素转换酶（ACE）含量、白细胞总数（TLC）和可溶性促红细胞生成素受体（sEpoR）是Hb水平的独立预测因素。ACE基因、TLC和血清铁是可能影响血细胞比容（Hct）水平的独立因素。ACE G2350A（rs4343）基因多态性可能影响HD患者对rHuEPOs的反应。
在HD患者中，在给予rHuEpo之前筛查ACE G2350A（rs4343）基因多态性可能有助于预测患者的反应。
