Assessment of serum vitamin D level and seminal vitamin D receptor gene methylation in a sample of Egyptian men with idiopathic infertility

Abstract

Vitamin D deficiency has been linked with different health problems including male infertility. Its function is mediated by the vitamin D receptor, which acts as a transcription factor. Epigenetic mechanisms such as DNA methylation may affect the vitamin D receptor gene and result in gene silencing. The present study aimed to assess serum vitamin D level and seminal methylation of vitamin D receptor gene in idiopathic male infertility. Blood and semen samples were collected from 60 men with idiopathic infertility and 40 healthy fertile men. Vitamin D levels were detected using enzyme‐linked fluorescent assay technique and methylation status was assessed by methylation‐specific PCR. Results revealed that serum levels of 25OHD were significantly lower in patients compared to controls. Positive correlation was found between serum level of 25OHD and sperm concentration in patients group and progressive motility in total studied group. Methylation of vitamin D receptor gene was significantly higher in patients compared to control group. Negative correlation was found between methylation of vitamin D receptor gene and both sperm concentration and progressive motility in total studied group. Results of the present study suggest that vitamin D deficiency and vitamin D receptor gene methylation may be involved in aetiopathogenesis of idiopathic male infertility.

The Effect of Antioxidants on Sperm Quality Parameters and Pregnancy Rates for Idiopathic Male Infertility: A Network Meta-Analysis of Randomized Controlled Trials

“…Increasing evidence indicates that the incidence of infertility has gradually increased over the past decades. Infertility affects about 15% of couples globally ( 1 ). Male factors are estimated to be present in about 50% of cases, and 20% of cases have common contributing female factors ( 2 , 3 ).…”

Methylation of the Vitamin D Receptor Gene in Human Disorders

“…These promising results were also confirmed in a subsequent study conducted on a cohort of Egyptian men with idiopathic infertility. Published data reported a negative correlation between the seminal methylation status of CGI2, located in the VDR promoter region, and both sperm concentration and progressive motility, strengthening the potential role of this epigenetic mechanism in male infertility [ 42 ] ( Figure 2 ). The methylation of the VDR has also recently been investigated in the pathological state of recurrent kidney stone formation, given the significant association between the genetic variability of VDR and urinary stone formation risks [ 43 , 75 ] ( Table 1 ).…”

Methylation of the Vitamin D Receptor (VDR) gene in human disorders

“…These promising results were also confirmed in a subsequent study conducted on a cohort of Egyptian men with idiopathic infertility. Published data reported a negative correlation between seminal methylation status of CGI2, located in the VDR promoter region, and both sperm concentration and progressive motility, strengthening the potential role of this epigenetic mechanism in male infertility [39]. Methylation of VDR has also recently been investigated in the pathological state of recurrent kidney stone formation, given the significant association between the genetic variability of VDR and urinary stone formation risk [40,72].…”