Genetic association of ACE2 and TMPRSS2 polymorphisms with COVID-19 severity; a single centre study from Egypt.

BACKGROUND: Since the emergence of the COVID-19 infection in China, it has caused considerable morbidity, mortality, and economic burden. It causes the vast majority of clinical manifestations, ranging from mild or even no symptoms to severe respiratory failure. There are many risk factors for severe COVID-19, such as old age, male gender, and associated comorbidities. A major role for genetic factors may exist. The SARS-CoV-2 virus enters the cell primarily through ACE2 receptors. rs2285666 is one of many polymorphisms found in the ACE2 receptor gene. To enable endosome-independent entry into target cells, the transmembrane protease serine-type 2 (TMPRSS2) is necessary to cleave the virus' spike (S) glycoprotein. TMPRSS2 is characterized by an androgen receptor element. The rs12329760 polymorphism in TMPRSS2 may explain different genetic susceptibilities to COVID-19. METHOD: This cross-sectional study was held in Mansoura University Hospitals during the period from June 2020 to April 2022 on patients who had mild and severe COVID-19. Demographic, clinical, and laboratory data were collected, and the TaqMan real-time polymerase chain was used for allelic discrimination in the genotyping of rs2285666 and rs12329760. RESULTS: This study included 317 Egyptian patients, aged from 0.2 to 87 years. Males were 146, while females were 171. They were divided into mild and severe groups (91 and 226 patients, respectively) based on their clinical symptoms. There was a significant association between COVID-19 severity and male gender, hypertension, diabetes mellitus, and high CRP. The genotype and allele frequency distributions of the ACE2 rs2285666 polymorphism showed no significant association with the severity of COVID-19 in both. In contrast, in TMPRSS2 rs12329760 minor T allele and CT, TT genotypes were significantly associated with a reduced likelihood of developing severe COVID-19. CONCLUSION: Our study indicates that the ACE2 rs2285666 polymorphism is not related to the severity of COVID-19, whether genotypes or alleles. In TMPRSS2 rs12329760, the dominant model and T allele showed significantly lower frequencies in severe cases, with a protective effect against severity. The discrepancies with previous results may be due to variations in other ACE2 receptor-related genes, inflammatory mediators, and coagulation indicators. Haplotype blocks and differences in racial makeup must be taken into consideration. Future research should be done to clarify how ethnicity affects these polymorphisms and how other comorbidities combine to have an additive effect.

Effect of vitamin D supplementation on management of anemia in hemodialysis patients with vitamin D deficiency: A double-blind, randomized, controlled trial.

INTRODUCTION: Anemia and vitamin D deficiency are common problems among hemodialysis (HD) patients. This study aimed to assess the impact of correction of vitamin D deficiency with vitamin D supplementation on the improvement of anemia in patients with end-stage renal disease (ESRD) on maintenance HD. METHODS: This double-blind, randomized, controlled study included 100 anemic HD patients with vitamin D deficiency who were randomly divided using the closed envelop method into two groups (1:1). The first group received vitamin D (50,000 IU) monthly for 6 months, and the other group received a placebo for the same period. 25-Hydroxyvitamin D (25(OH)D) levels were measured for both groups at the beginning of the study and after 6 months at the end of the study. Hemoglobin (Hb) concentrations were recorded monthly. FINDINGS: Vitamin D supplementation during the period of the study increased 25(OH)D levels in the vitamin D group more than the placebo group (p > 0.001). Serum ferritin, serum iron, and transferrin saturation did not differ significantly between both groups during the period of the study. Hb concentration in the vitamin D group increased more than that in the other group over the period of the study, and there was a statistically significant difference between the two groups in all durations of follow-up. Erythropoietin (EPO) dosage requirements were found to be lower in the vitamin D group than in the placebo group, and this was statistically significant (p > 0.001). DISCUSSION: Vitamin D supplementation in anemic ESRD patients on HD with vitamin D deficiency or insufficiency is safe and effective in improving anemia and decreasing EPO dosage.