Follicle stimulating hormone receptor G-29A, 919A&gt;G, 2039A&gt;G polymorphism and the risk of male infertility: A meta-analysis

Wu, Wei; Cai, Hongquan; Sun, Hong; Lü, Jing; Zhao, Dan; Qin, Yufeng; Han, Xiumei; Niu, Xiaobing; Lu, Chuncheng; Xia, Yankai; Wang, Shoulin; Moor, Bart De; Marchal, Kathleen; Wang, Xinru

doi:10.1016/j.gene.2012.02.023

Cited by 25 publications

(28 citation statements)

References 32 publications

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“…We also found no association between the individual FSHR Thr307Ala and Asn680Ser polymorphisms and the risk of male infertility. This was consistent with a previous meta-analysis (Wu et al, 2012). The association between the combined genotypes of FSHR polymorphisms and the risk of male infertility were also assessed by our meta-analysis, which found that the combined genotypes of Thr/Thr + Asn/Asn increased the risk of male infertility.…”

Section: Discussionsupporting

confidence: 92%

FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis

Wu¹,

Xu²,

Wang³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Male infertility is a complex multifactorial and polygenic disease, and genetic factors play an important role in its formation and development. Recently, the association between follicle stimulating hormone receptor (FSHR) gene polymorphisms and male infertility risk has attracted widespread attention due to the unique biological functions of FSH. The aim of this study was to further explore the associations between the Thr307Ala and Asn680Ser polymorphisms of the FSHR gene and male infertility. A case-control study of 212 infertile and 164 fertile men from North China was performed. FSHR polymorphism genotypes were obtained through direct DNA sequencing. A metaanalysis was also performed. In the single-site association analysis, no significant associations were identified between FSHR Thr307Ala and Asn680Ser polymorphisms and male infertility (P > 0.05). However, we found that the combined genotypic frequency of Thr/Ala + Asn/ Asn was higher in infertile patients than in controls (6.6 vs 1.8%; odds ratio (OR) = 3.795; 95% confidence interval (CI): 1.072-13.434, P = 0.027). In the meta-analysis, there was also no evidence of FSHR polymorphism (rs 6165 and rs 6168) association with male infertility 5593 FSHR gene polymorphisms and male infertility in China ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (2): 5592-5601 (2015) (P > 0.05). However, we found that the combined genotypes Thr/Thr + Asn/Asn had an increased risk of male infertility (OR = 1.238; 95%CI: 1.001-1.537, P = 0.049). Our studies further confirmed reports that there were no significant associations between the FSHR Thr307Ala and Asn680Ser polymorphisms and male infertility risk. However, a combined FSHR genotype showed significant association with male infertility.

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Section: Discussionsupporting

confidence: 92%

FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis

Wu¹,

Xu²,

Wang³

et al. 2015

Genet. Mol. Res.

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“…Different studies reported no significant correlation among serum FSH levels, semen characteristics or fertility status and FSHR gene polymorphisms [7,10,14,22]. However, the hypothesis that the combination of heterozygous FSHR (codon 307 and 607) can be responsible for male infertility was reported by Shimoda et al [11].…”

Section: Discussionmentioning

confidence: 99%

“…Although no significant correlation between serum FSH levels and semen characteristics and FSHR gene polymorphisms was found, in some studies the combination of heterozygous Thr/Ala + Asn/Ser genotypes has been shown to increase the risk of male infertility [7,11,12]. However, a published study of 364 idiopathic infertile patients and 281 fertile controls in the Han-Chinese population [13] and a subsequent meta-analysis of the literature [14] did not show an association between male infertility and SNPs at positions 307 and 680.…”

Section: Introductionmentioning

confidence: 98%

Alterations of the FSH and LH receptor genes and evaluation of sperm ultrastructure in men with idiopathic hypergonadotropic hypogonadism

Collodel

Cantara

Cairano

et al. 2013

J Assist Reprod Genet

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Purpose Gonadotropins, interacting with their gonadal receptors, play a key role in sexual development, reproductive functions and metabolism. In this study we performed the genetic analysis of FSHR and LHR and semen investigation in 14 infertile men with normal level of T and elevated levels of FSH and/or LH in the absence of other causes of infertility. Methods Sperm parameters were analysed following WHO (2010) guidelines and sperm morphology by Transmission Electron Microscopy (TEM) analysis mathematically elaborated. FSHR and LHR gene mutations have been searched by PCR technique, followed by DHPLC analysis and direct sequencing.Results In FSHR, we found no difference in the frequency between Ala or Thr at position 307, Ser was at codon 680 in all subjects. Three patients had an heterozygous mutation at codon 419. Three intronic polymorphisms (rs2091787, rs6708637, rs1922464) were significantly found compared to controls; the single allele frequency and the odds ratio were calculated. Two new variants: the Cys338Arg and the Gln123Glu were detected in two different patients. Regarding LHR, three patients were heterozygous for the known variant Glu354Lys and two for Ile374Thr. Intronic polymorphisms were not identified. A new variant, the Val144Ile was found. By the routine semen analysis, variable seminal conditions in this group of patients was observed, on the contrary TEM data mathematically elaborated showed a homogeneous decrease in fertility index and increase in sperm pathologies such as apoptosis and immaturity. Conclusions The obtained results suggest that a deeper examination of spermatozoa, achieved by the use of more powerful tools such as TEM or molecular analysis, are advisable in patients with hypergonadotropic hypogonadism.

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“…Most of the reports showed no significant association of the polymorphisms at position K29, 307, and 680 with these parameters , Pengo et al 2006, Li et al 2011, Lindgren et al 2012. The recent three meta-analyses that summarized the seven original papers also suggest no association of these polymorphisms with reproductive abnormalities in men (Tüttelmann et al 2007, Lend et al 2010, Wu et al 2012. However, it was interesting to note that subjects with AA genotype at position K29 showed significantly smaller mean testicular volumes when compared with subjects with GG genotype (Lend et al 2010).…”

Section: Association Of Fshr Gene Polymorphisms With Male Infertilitymentioning

confidence: 99%

Mutations and polymorphisms in FSH receptor: functional implications in human reproduction

Desai¹,

Roy²,

Mahale³

2013

Reproduction

117

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FSH brings about its physiological actions by activating a specific receptor located on target cells. Normal functioning of the FSH receptor (FSHR) is crucial for follicular development and estradiol production in females and for the regulation of Sertoli cell function and spermatogenesis in males. In the last two decades, the number of inactivating and activating mutations, single nucleotide polymorphisms, and spliced variants of FSHR gene has been identified in selected infertile cases. Information on genotype-phenotype correlation and in vitro functional characterization of the mutants has helped in understanding the possible genetic cause for female infertility in affected individuals. The information is also being used to dissect various extracellular and intracellular events involved in hormone-receptor interaction by studying the differences in the properties of the mutant receptor when compared with WT receptor. Studies on polymorphisms in the FSHR gene have shown variability in clinical outcome among women treated with FSH. These observations are being explored to develop molecular markers to predict the optimum dose of FSH required for controlled ovarian hyperstimulation. Pharmacogenetics is an emerging field in this area that aims at designing individual treatment protocols for reproductive abnormalities based on FSHR gene polymorphisms. The present review discusses the current knowledge of various genetic alterations in FSHR and their impact on receptor function in the female reproductive system. Reproduction (2013) 146 R235-R248

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Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: A meta-analysis

Cited by 25 publications

References 32 publications

FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis

FSHR gene Thr307Ala and Asn680Ser polymorphisms in infertile men: an association study in North China and meta-analysis

Alterations of the FSH and LH receptor genes and evaluation of sperm ultrastructure in men with idiopathic hypergonadotropic hypogonadism

Mutations and polymorphisms in FSH receptor: functional implications in human reproduction

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