Literature DB >> 21912887

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

Livio Casarini1, Elisa Pignatti, Manuela Simoni.   

Abstract

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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Year:  2011        PMID: 21912887     DOI: 10.1007/s11154-011-9192-2

Source DB:  PubMed          Journal:  Rev Endocr Metab Disord        ISSN: 1389-9155            Impact factor:   6.514


  203 in total

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Review 3.  Breast cancer (1)

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5.  Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene.

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6.  Luteinizing hormone beta-subunit gene (LHbeta) polymorphism in infertility and endometriosis-associated infertility.

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10.  Genetic and functional analyses of polymorphisms in the human FSH receptor gene.

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  13 in total

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Authors:  Stephany El-Hayek; Isabelle Demeestere; Hugh J Clarke
Journal:  Proc Natl Acad Sci U S A       Date:  2014-11-10       Impact factor: 11.205

Review 3.  Pharmacogenetics of follicle-stimulating hormone action.

Authors:  Maris Laan; Marina Grigorova; Ilpo T Huhtaniemi
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5.  Genotyping common FSHR polymorphisms based on competitive amplification of differentially melting amplicons (CADMA).

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6.  Reduced FSH and LH action: implications for medically assisted reproduction.

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7.  Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume.

Authors:  M Grigorova; M Punab; O Poolamets; S Sõber; V Vihljajev; B Žilaitienė; J Erenpreiss; V Matulevičius; I Tsarev; M Laan
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Review 8.  Human Chorionic Gonadotropin and Breast Cancer.

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10.  Association of follicle-stimulating hormone receptor polymorphisms with ovarian response in Chinese women: a prospective clinical study.

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Journal:  PLoS One       Date:  2013-10-22       Impact factor: 3.240

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