Dataset Information

Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic.

ABSTRACT:

Abstract

Genetic risk factors have been shown to contribute to the development of sexual dysfunction. However, the role of methylenetetrahydrofolate reductase (MTHFR) gene variants in the risk of erectile dysfunction (ED) remains unclear. In this study, we recruited 1254 participants who underwent ED assessed by the International Index of Erectile Function-5. The MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction (PCR). No significant difference in the genotypic frequency of the MTHFR C677T polymorphism (CC, CT, and TT) was observed between men from the ED and non-ED groups. In addition, on binary logistic regression analysis, both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T polymorphism. Interestingly, a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED (P = 0.02). The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis, even after adjusting for potential confounders (odds ratio [OR] = 2.46, 95% confidence interval [CI]: 1.15-5.50, P = 0.02). These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe ED. Identification of MTHFR gene polymorphisms may provide complementary information for ED patients during routine clinical diagnosis.

SUBMITTER: Bai S

PROVIDER: S-EPMC10846823 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic.

Bai Shun S Li Ming-Zhen MZ Wan Yang-Yang YY Hu Xue-Chun XC Liu Yi-Xun YX Tong Xian-Hong XH Guo Tong-Hang TH Zong Lu L Liu Ran R Zhao Yuan-Qi YQ Xiang Ping P Xu Bo B Jiang Xiao-Hua XH

Asian journal of andrology 20230908 1

PMID: 37738148

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Project description:Background:5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in one-carbon metabolism that ensures the availability of methyl groups for methylation reactions. Two single-nucleotide polymorphisms (SNPs) in the MTHFR gene, 677C>T and 1298A>C, result in a thermolabile enzyme with reduced function. These variants, in both the maternal and/or fetal genes, have been associated with pregnancy complications including miscarriage, neural tube defects (NTDs), and preeclampsia (PE), perhaps due to altered capacity for DNA methylation (DNAm). In this study, we assessed the association between MTHFR 677TT and 1298CC genotypes and risk of NTDs, PE, or normotensive intrauterine growth restriction (nIUGR). Additionally, we assessed whether these high-risk genotypes are associated with altered DNAm in the placenta. Results:In 303 placentas screened for this study, we observed no significant association between the occurrence of NTDs (N = 55), PE (early-onset: N = 28, late-onset: N = 20), or nIUGR (N = 21) and placental (fetal) MTHFR 677TT or 1298CC genotypes compared to healthy pregnancies (N = 179), though a trend of increased 677TT genotype in PE/IUGR together was observed (OR 2.53, p = 0.048). DNAm was profiled in 10 high-risk 677 (677TT + 1298AA), 10 high-risk 1298 (677CC + 1298CC), and 10 reference (677CC + 1298AA) genotype placentas. Linear modeling identified no significantly differentially methylated sites between high-risk 677 or 1298 and reference placentas at a false discovery rate < 0.05 and Δβ ≥ 0.05 using the Illumina Infinium HumanMethylation450 BeadChip. Using a differentially methylated region analysis or separating cytosine-guanine dinucleotides (CpGs) by CpG density to reduce multiple comparisons also did not identify differential methylation. Additionally, there was no consistent evidence for altered methylation of repetitive DNA between high-risk and reference placentas. Conclusions:We conclude that large-scale, genome-wide disruption in DNAm does not occur in placentas with the high-risk MTHFR 677TT or 1298CC genotypes. Furthermore, there was no evidence for an association of the 1298CC genotype and only a tendency to higher 677TT in pregnancy complications of PE/IUGR. This may be due to small sample sizes or folate repletion in our Canadian population attenuating effects of the high-risk MTHFR variants. However, given our results and the conflicting results in the literature, investigations into alternative mechanisms that may explain the link between MTHFR variants and pregnancy complications, or in populations at risk of folate deficiencies, are warranted.

Project description:BackgroundInfertility affects over 50 million people globally, the burden is disproportionately borne by women, especially in low and middle-income countries (LMIC). The impact of infertility on quality of life (QoL) has not been well documented or assessed qualitatively in LMIC like Sudan, where infertility is a pervasive problem. Therefore, the purpose of this mixed-methods study was to assess the fertility-related QoL of infertile individuals in Sudan using the fertility quality of life (FertiQoL) tool.MethodsWe used explanatory sequential design (surveys and interviews) in a fertility clinic in Sudan (January 2017-May 2018). We collected socio-demographic information, medical/reproductive history and used Arabic FertiQoL. We generated descriptive statistics of FertiQoL (core, domain) scores and independent variables; multiple linear regression models to assess the relationship between FertiQoL and dependent variables; and t-tests to compare mean core/domain scores. We conducted thematic analysis on qualitative data about the subjective experience of being infertile.ResultsThe study included 102 participants (72 women), 70 educated beyond secondary school, mean age 33.89 years (SD = 7.82) and mean duration of infertility was 4.03 years (SD 3.29). Mean FertiQoL core score 76.02 (SD = 16.26), domain scores: emotional 71.61 (SD = 22.04), relational 78.06 (SD = 16.62), mind/body 74.06 (SD 22.53) and social 78.88 (SD = 18.24). Men had better fertility-related QoL.Four themes emergedA sense of something missing because of childlessness; social pressure from peoples' questions; impact on the spousal relationship (which differed amongst participants) and coping (faith-based and non-faith-based) which was necessary when the lived experience led to internal distress.ConclusionsInfertility negatively impacted the QoL of participants in this study, and women were worse off. Cognitive appraisal, social support and pressure may be key factors influencing the QoL of infertile individuals, therefore they should be encouraged to seek social and professional support. FertiQoL is a useful tool to assess fertility QoL in LMIC like Sudan.

Dataset Information

Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic.

Abstract

Publications

Association between MTHFR c.677C>T variant and erectile dysfunction among males attending fertility clinic.

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