Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor

Wunsch, A; Ahda, Yuni; Banaz-Yaşar, Ferya; Sonntag, Barbara; Nieschlag, Eberhard; Simoni, Manuela; Gromoll, Jörg

doi:10.1016/j.fertnstert.2005.02.031

Cited by 87 publications

(83 citation statements)

References 27 publications

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“…The prevalence of AA genotypes at −29 position was observed to be significantly higher in both the amenorrhic groups as compared to control group (Table 1). It has been reported that the frequency distribution of the polymorphism at −29 position was strikingly different in Indonesian and German women; suggesting putative ethnic variability in the incidence of the polymorphisms [26]. The allelic frequency of 'A' allele at the same position was reported to be significantly higher in essential hypertension subjects than in control subjects [32].…”

Section: Discussionmentioning

confidence: 97%

“…PCR conditions were specifically adjusted for each fragment. These primer sequences have been either adapted from previously published studies [23,25,26] or designed for the present study (Table 2). Five microliters of each PCR product was resolved on 10% polyacrylamide gel electrophoresis (PAGE) and visualized by silver staining.…”

Section: Dna Isolation and Polymerase Chain Reactionmentioning

confidence: 99%

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Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

Achrekar

Modi

Meherji

et al. 2010

J Assist Reprod Genet

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Purpose This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism. Materials and methods Eighty six women with primary or secondary amenorrhea and 100 normally cycling proven fertile women of Indian origin were retrospectively studied. These subjects were systematically screened for entire FSHR gene. Results The frequency distribution of polymorphism at −29 position of FSHR gene is altered in women with primary and secondary amenorrhea as compared to controls. AA genotype at −29 position of FSHR gene seems to be associated with increased serum FSH levels in the study subjects. We have identified a novel homozygous mutation C 1723 T (Ala 575 Val) in one woman with primary amenorrhea. Conclusions Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position −29. We identified a novel homozygous mutation C 1723 T (Ala 575 Val) in a woman with primary amenorrhea.

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Section: Discussionmentioning

confidence: 97%

Section: Dna Isolation and Polymerase Chain Reactionmentioning

confidence: 99%

Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

Achrekar

Modi

Meherji

et al. 2010

J Assist Reprod Genet

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“…As the receptor of FSH, the FSHreceptor (FSHR) mediates action of FSH on ovarian follicular granulosa cells. Recently, SNPs in the human FSHR gene have been identified and severely affects the process of gametogenesis and infertility (Gromoll et al, 1996;Ahda et al, 2005;Wunsch et al, 2005;De Leener et al, 2006). Although the FSHR gene was first investigated as a potential candidate gene influencing NBA in pig in 1995 (Remy et al, 1995), only a few researchers have done further investigation on SNPs of this gene.…”

Section: Discussionmentioning

confidence: 99%

Association of four new single-nucleotide polymorphisms in follicle-stimulating hormone receptor and zona pellucida glycoprotein with reproductive traits in pigs

Yuan

Jafer

Affara

et al. 2007

Animal

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Two new single-nucleotide polymorphisms (SNPs) (C1166T and G1190A) were discovered in the follicle-stimulating hormone receptor (FSHR) gene and two (G261A and T302C) in the zona pellucida glycoprotein (ZP3) gene. These SNPs were genotyped in three Chinese domestic purebred sow lines (42 Small Meishan, 46 Qingping and 41 Jinhua sows) and three European purebred sow lines (225 Duroc, 195 Large White and 65 Landrace sows) by using SNP chips. Phenotypic data including the functional teat number (i.e. milk-producing teats, TN) and number of piglets born alive per litter (NBA). These traits were tested for association with the genotypes of four SNPs. The association analysis revealed genotype of G261A in the ZP3 gene was significantly (P , 0.01) associated with overall NBA and NBA at later parities (NBA 21 ) but not with NBA at first parity (NBA 1 ). There was a significant (P , 0.05) difference between sows with genotype GG (14.83 6 0.18) and AA (14.26 6 0.09) in TN at position 261 in the ZP3 gene. No significant associations were observed for the SNPs in the FSHR gene with NBA or TN in our populations. The results showed that the new SNPs in the ZP3 gene may be an effective potential marker to be used in conjunction with traditional selection methods.

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“…These polymorphisms are in linkage disequilibrium. More recently, another polymorphism in the promoter region of the FSHR, in position -29, has been identified (rs1394205) [4]. This polymorphism is characterized by the substitution of guanine with adenine (GGAA in GAAA), and it seems to reduce the expression of FSHR.…”

Section: Introductionmentioning

confidence: 99%

“…As regards the Bnew^FSHR polymorphism c.-29 G>A, few studies have been published [4,[28][29][30][31]. Specifically, Wunsch et al [4] have found no correlation of this polymorphism with ovarian reserve or ovarian response to stimulation.…”

Section: Introductionmentioning

confidence: 99%

The carriers of the A/G-G/G allelic combination of the c.2039 A>G and c.-29 G>A FSH receptor polymorphisms retrieve the highest number of oocytes in IVF/ICSI cycles

Allegra

Marino

Raimondo

et al. 2016

J Assist Reprod Genet

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Purpose The objective of this study was the elucidation of the possible role of the single-nucleotide polymorphisms (SNP) at position -29 and 2039 of the FSH receptor gene (FSHR) as independent predictive markers of ovarian response. Indeed, the tailoring of reproductive treatments is crucial for both maximizing the success of IVF patients and obtaining a reduction in hypo-or hyper-response rates. Methods This prospective, observational study analyzed the association of -29 and 2039 FSHR polymorphisms with the number of retrieved oocytes in 140 patients attending an IVF/ ICSI cycle for severe male factors (≤5,000,000 spermatozoa/ mL) or tubal factors at the ANDROS Day

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Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor

Cited by 87 publications

References 27 publications

Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea

Association of four new single-nucleotide polymorphisms in follicle-stimulating hormone receptor and zona pellucida glycoprotein with reproductive traits in pigs

The carriers of the A/G-G/G allelic combination of the c.2039 A>G and c.-29 G>A FSH receptor polymorphisms retrieve the highest number of oocytes in IVF/ICSI cycles

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