A mutant single nucleotide polymorphism of follicle-stimulating hormone receptor is associated with a lower risk of endometriosis

Wang, Hsin-Shih; Cheng, Bi-Hwa; Wu, Hsien-Ming; Yen, Chih‐Feng; Liu, Chun‐Ting; Chao, Angel; Wang, Tzu‐Hao

doi:10.1016/j.fertnstert.2010.07.1092

Cited by 23 publications

(20 citation statements)

References 14 publications

(16 reference statements)

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“…A Chinese study which included 637 women, has shown that women with this polymorphism had a significantly lower risk of endometriosis [52]. However, this study did not specify if those patients were infertile or not.…”

Section: Discussionmentioning

confidence: 96%

LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility

Schmitz

Souza

Genro

et al. 2015

J Assist Reprod Genet

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Purpose To verify if polymorphisms of LH (Trp8Arg/Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser) are associated with endometriosis and infertility. Methods This is a prospective case-control study. Sixtyseven patients with endometriosis and infertility (study group) and 65 healthy fertile patients (control group) were enrolled in the study between July 2010 and July 2013. All patients had their endometriosis diagnosis made or excluded by laparoscopic surgery; study group was submitted to the surgery for infertility investigation and control group for tubal ligation. Day-3 serum hormones were collected from all patients. Analysis of nucleotide mutations for LH polymorphisms (Trp8Arg and Ile15Thr), LHR polymorphism (insLQ), and FSHR polymorphism (Asn680Ser) were performed by PCR.Results Day-3 FSH, estradiol and LH serum levels were not different between the groups, while CA-125 was higher in patients with endometriosis and infertility. All polymorphisms studied were in Hardy-Weinberg equilibrium. The prevalence of insLQ was significantly higher in patients with endometriosis and infertility (P=0.005). Allele occurrence in control group was 0.10 versus 0.25 in infertile endometriosis group (P=0.001). There was no difference regarding Trp8Arg/Ile15Thr (P>0.05) and Asn680Ser (P>0.05) prevalence between groups. Conclusion This is the first time that prevalence of insLQ was shown to be higher in patients with endometriosis and infertility than in healthy fertile patients. There was no difference in LH and FSHR polymorphisms' prevalence between groups.

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Section: Discussionmentioning

confidence: 96%

LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility

Schmitz

Souza

Genro

et al. 2015

J Assist Reprod Genet

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“…Lastly, a recent study suggested that the homozygous FSHR polymorphism Asn680 may have a protective effect on the development of endometriosis, inducing a higher activity of aromatase than the homozygous FSHR Ser680 or eterozygous in Taiwanese Chinese women [112]. In summary, there is no convincing evidence to link gonadotropin genes to endometriosis but a role of the FSHR gene cannot be excluded.…”

Section: No Consistent Association Between Endometriosis and The Genomentioning

confidence: 97%

Effects of polymorphisms in gonadotropin and gonadotropin receptor genes on reproductive function

Casarini

Pignatti

Simoni

2011

Rev Endocr Metab Disord

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Gonadotropins, the action of which is mediated at the level of their gonadal receptors, play a key role in sexual development, reproductive functions and in metabolism. The involvement of the gonadotropins and their receptor genotypes on reproductive function are widely studied. A large number of gonadotropins and their receptors gene polymorphisms are known, but the only one considerable as a clear, absolute genetic marker of reproductive features or disfunctions is the FSHR Asn680Ser polymorphism, since it modulates ovarian response to FSH. The aim of these studies would to be the prediction of the genetic causes of sex-related diseases to enable a customized clinical setting based on individual response of patients undergoing gonadotropin stimulation. In this review we discuss the latest information about the effects of polymorphisms of the gonadotropins and their receptor genes on reproductive functions of both male and female, and discuss their patho-physiological implications.

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“…The presence of the Ser680 FSHR isoform in Taiwanese women was found to be associated to a lower occurrence of endometriosis (129). This suggests the presence of functional FSHR in invading endometrial cells.…”

Section: Physiopathological Conditions and Clinical Consequencesmentioning

confidence: 99%

Structureâ€“Function Relationships of Glycoprotein Hormones and Their Subunitsâ€™ Ancestors

2015

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A mutant single nucleotide polymorphism of follicle-stimulating hormone receptor is associated with a lower risk of endometriosis

Cited by 23 publications

References 14 publications

LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility

LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility

Effects of polymorphisms in gonadotropin and gonadotropin receptor genes on reproductive function

Structureâ€“Function Relationships of Glycoprotein Hormones and Their Subunitsâ€™ Ancestors

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