SNP rs12794714 of CYP2R1 is associated with serum vitamin D levels and recurrent spontaneous abortion (RSA): a case-control study.

PURPOSE: Vitamin D (VD) deficiency seems to be associated with the risk of recurrent spontaneous abortion (RSA). Vitamin D receptor (VDR) and cytochrome P450 family 2 subfamily R member 1 (CYP2R1) are two genes which are vital for VD metabolism and actions. However, whether single-nucleotide polymorphisms (SNPs) in these genes are correlated with the risk of RSA are poorly understood. Therefore, we aimed to characterize the relationships among VDR SNPs, CYP2R1 SNPs and RSA. METHODS: This case-control study enrolled 75 RSA patients and 83 controls. Serum VD and some cytokines were detected with LC-MS/MS and flow cytometry, respectively. Genotyping for three SNPs of CYP2R1 (rs10741657, rs10766197 and rs12794714) and five SNPs of VDR (rs7975232, rs1544410, rs2189480, rs2228570 and rs2239179) was done with polymerase chain reaction (PCR) and high-throughput sequencing. All the data were analyzed with appropriate methods and in different models. RESULTS: The results revealed a significant correlation between the AG genotype of CYP2R1 rs12794714 and VD levels (OR 0.686; 95% CI 0.49-0.96; p = 0.028). Besides, the AG and GG genotypes of CYP2R1 rs12794714 were markedly related to the risk of RSA (OR 52.394, 59.497; 95% CI 2.683-1023.265, 3.110-1138.367; p = 0.009, 0.007, respectively). CONCLUSION: Our results indicate that CYP2R1 rs12794714 might be a risk factor for RSA. Hence, early screening of pregnant women for CYP2R1 rs12794714 is necessary to warrant proactive counseling and treatment against RSA.

[Impact of cigarette smoking on sperm quality and seminal plasma ROS in preconception males].

OBJECTIVE: To investigate the influence of cigarette smoking on sperm quality and ROS in the seminal plasma of preconception males in Chongqing so as to provide some guidance for preconception couples. METHODS: Totally, 368 preconception males were enrolled in this study, including 196 smokers and 172 non-smokers, and the former divided into mild smokers (n = 88, ≤9 cigarettes per day for ≤5 years) and moderate to heavy smokers (n = 108, ≥10 cigarettes per day for ≥5 years or ≤9 cigarettes per day for ≥10 years). All the subjects underwent physical examination, medical history interview, health questionnaire investigation, and determination of semen parameters, ROS in the seminal plasma and sperm DNA fragmentation index (DFI). RESULTS: Among the 368 preconception males, 53.26% had a history of cigarette smoking, of whom 29.35% were moderate to heavy smokers. Only 55.4% of the subjects were found with normal sperm morphology and 52.6% with normal sperm progressive motility. Compared with the non-smokers, the moderate to heavy smokers showed significantly decreased semen volume (ï¼»3.33 ± 1.20ï¼½ vs ï¼»2.78 ± 1.08ï¼½ ml, P < 0.05), sperm concentration (ï¼»88.19 ± 70.33ï¼½ vs ï¼»75.16 ± 60.13ï¼½ × 106/ml, P < 0.05), and percentages of progressively motile sperm (PMS, ï¼»36.58 ± 13.90ï¼½ % vs ï¼»32.18 ± 15.24ï¼½ %, P < 0.05) and morphologically normal sperm (MNS, ï¼»3.85 ± 1.93ï¼½ % vs ï¼»3.52 ± 1.58ï¼½ %, P < 0.05), but increased sperm DFI (ï¼»10.45 ± 8.53ï¼½ % vs ï¼»14.53 ± 12.85ï¼½ %, P < 0.05) and ROS in the seminal plasma (ï¼»12.20 ± 8.10ï¼½ vs ï¼»24.10 ± 18.50ï¼½ nmol/mg prot, P < 0.05). Cigarette smoking was correlated positively with the ROS level in the seminal plasma (r = 0.235, P < 0.05), while the ROS level of the smokers negatively with the total sperm count (r = －136, P < 0.05), PMS (r = －0.381, P < 0.01) and MNS (r = －0.218, P < 0.01), but positively with sperm DFI in the preconception males (r = 0.387, P < 0.01). CONCLUSIONS: Cigarette smoking can increase the ROS level in the seminal plasma, decrease the total sperm count and sperm progressive motility, and induce sperm malformation and sperm DNA fragmentation in preconception males.