Homozygous Methylenetetrahydrofolate Reductase C677T Mutation and Male Infertility

Bezold, Guntram; Lange, Monika; Peter, Ralf Uwe

doi:10.1056/nejm200104123441517

Cited by 125 publications

(87 citation statements)

References 5 publications

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“…This finding is consistent with a 1-year follow-up study of idiopathic male infertility conducted by Paracchini et al (2006). Some case-control studies, such as those conducted by Bezold et al (2001) and others (Park et al, 2005;Singh et al, 2005;Lee et al, 2006;A et al, 2007), also described a higher rate of MTHFR C677T in infertile men, whereas the studies of Ebisch et al (2003), Stuppia et al (2003), and Dhillon et al (2007) reported no obvious association between the MTHFR C677T mutation and male infertility.…”

Section: Discussionsupporting

confidence: 83%

Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

Xiao

et al. 2014

Genet. Mol. Res.

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ABSTRACT. The aim of this study was to explore the relationship between 2 genetic polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR), C677T and A1298C, and determine the long-term reproductive outcome in infertile men. This was a prospective study conducted in an andrology clinic. Men with a 1-year history of infertility were assessed for the MTHFR polymorphisms at a 5-year follow-up. We compared the MTHFR C677T and A1298C polymorphisms by polymerase chain reaction-restriction fragment length polymorphism between men who did and did not bear children during follow-up. Of the 215 men who were infertile at 1 year, 82 (38.1%) remained infertile and 133 (61.9%) achieved natural conception during the 5-year follow-up, with the highest rate in the first year (32.6%). The MTHFR 677TT genotype (homozygote) was associated with a substantially increased risk of infertility during follow-up [odds (2014) ratio (OR) = 10.242; 95% confidence interval (CI) = 1.257-83.464] relative to the MTHFR 677CC genotype (wild-type). Risk of infertility was not increased by the MTHFR A1298C polymorphism alone, but was increased by the combination of polymorphisms MTHFR C677T and MTHFR A1298C (OR = 11.818; 95%CI = 1.415-98.674). The homozygous MTHFR C677T genotype was a risk factor for male infertility during 5-year follow-up, whereas a correlation between MTHFR A1298C and infertility was not observed. The MTHFR C677T and MTHFR A1298C polymorphisms had additive effects on male infertility.

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Section: Discussionsupporting

confidence: 83%

Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

Xiao

et al. 2014

Genet. Mol. Res.

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“…Our findings supported by the other studies indicating that there is no relation (14,(22)(23)(24). Our study is the first one in the Turkish population which shows that MTHFR C677T polymorphism is associated with the risk of the development of unexplained infertility.…”

Section: Resultssupporting

confidence: 91%

“…There are several studies performed in the populations and investigated the association between MTHFR gene polymorphisms and infertility (14,15,22). Their findings indicated an association of C677T polymorphism with unexplained infertility and they suggested that C677T gene polymorphism is a genetic risk factor for unexplained male infertility.…”

Section: Discussionmentioning

confidence: 99%

İnfertil Türk erkeklerinde MTHFR genindeki C677T ve A1298C polimorfizmlerinin azosperm ve oligosperm gelişim riski üzerindeki etkisinin araştırılması

Vardarlı¹,

Cetintas²,

Eroğlu³

et al. 2014

Ege Tıp Dergisi

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SummaryAim: We aimed to investigate the relationship between unexplained male infertility, and the -677C/T (rs1801133) and -1298A/C (rs1801131) polymorphisms of the MTHFR gene in a group of Turkish infertile men with non-obstructive azoospermia and severe oligozoospermia in this study. Materials and Methods:Study group includes 50 non-obstructive azoospermic patients, 50 severe oligospermic patients and 50 healthy controls with normal sperm parameters who had had more than one child. Genotyping was performed by generated amplicons from melting curve analysis after real time PCR. Results:The distribution of the 677CC genotype was significantly higher in the control group than the infertile group (p= 0.046). There was a significant frequency of the polymorphic T allele in infertile patients higher than the control group (p=0.015). Neither the frequency, nor the allelic distribution of A1298C genotype was different between infertile groups compared with the control. Conclusions:The MTHFR 677TT genotype is a genetic risk factor for unexplained male infertility, especially in the group with oligospermia and non-obstructive azoospermia.

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“…A number of studies have evaluated the association of MTHFR gene polymorphism with male infertility [13, 38-40, 22, 27, 17, 16, 18, 29, 25, 41, 28, 42, 26, 21, 23]. The MTHFR C677T polymorphism was reported to be associated with male infertility in the German [42], Indian [26,18,17,38], Korean [23], Chinese [19] and Italian populations [41]. In contrast, Stuppia et al [28] and Ebisch et al [21] did not find any statistically significance of C677T variation in infertile men from Italy and the Netherlands.…”

Section: Discussionmentioning

confidence: 99%

Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population

et al. 2015

J Assist Reprod Genet

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Purpose This study explored the possible association of four single nucleotide polymorphisms (SNPs) of the three folaterelated enzyme genes: MTHFR C677T and A1298C, MTR A2756G and MTRR A66G, with male infertility in the Chinese population. Methods The polymorphic distributions of the four SNPs (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) were investigated by the method of SNaPshot in a Chinese cohort including 296 idiopathic infertile males with azoospermia or oligozoospermia and 204 fertile males. Results We found no evidence for an association between any of these variants (MTHFR C677T and A1298C, MTR A2756G and MTRR A66G) and male infertility. Conclusions There is no evidence for an association between male infertility and polymorphism of the three folate-related enzyme genes in the Chinese population.

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Homozygous Methylenetetrahydrofolate Reductase C677T Mutation and Male Infertility

Cited by 125 publications

References 5 publications

Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility

İnfertil Türk erkeklerinde MTHFR genindeki C677T ve A1298C polimorfizmlerinin azosperm ve oligosperm gelişim riski üzerindeki etkisinin araştırılması

Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the Chinese population

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