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Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome.
Valkenburg, O; Uitterlinden, A G; Piersma, D; Hofman, A; Themmen, A P N; de Jong, F H; Fauser, B C J M; Laven, J S E.
Afiliación
  • Valkenburg O; Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Room HS508, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. o.valkenburg@erasmusmc.nl
Hum Reprod ; 24(8): 2014-22, 2009 Aug.
Article en En | MEDLINE | ID: mdl-19403562
BACKGROUND: Polycystic ovary syndrome (PCOS) is a complex genetic disorder. Multiple functional polymorphisms have been identified in genes that regulate the hypothalamic-pituitary-gonadal (HPG) axis that regulates ovarian function. The present study aims to examine the influence of genetic variants of the HPG-axis on the severity of clinical features of PCOS and disease susceptibility. METHODS: We included 518 Caucasian PCOS women and 2996 unselected controls from the general population (the Rotterdam study). Genotype distributions were compared between patients and controls. Subsequently, associations with clinical features of PCOS were studied. Single nucleotide polymorphisms were selected in GnRH (Trp16Ser [rs6185]), the FSH-receptor (FSHR, Ala307Thr [rs6165] and Asn680Ser [rs6166]) and the LH-receptor (18insLQ, Asn291Ser [rs12470652] and Ser312Asn [rs2293275]). RESULTS: FSHR Ser(680) was associated with higher levels of gonadotrophic hormones (FSH: P < 0.01, LH: P = 0.01), and testosterone (P = 0.05) and a higher frequency of hyperandrogenism (P = 0.04). No differences in risk for PCOS in association with the FSH-receptor variants were observed. CONCLUSION: Genetic variants of the HPG-axis were associated with a modest but significant effect on the phenotype of PCOS. FSHR variants were strongly associated with the severity of clinical features of PCOS, such as levels of gonadotrophic hormones and the presence of hyperandrogenism, but not disease risk.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome del Ovario Poliquístico / Receptores de HFE / Receptores de HL / Hormona Liberadora de Gonadotropina Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adult / Female / Humans / Middle aged Idioma: En Revista: Hum Reprod Asunto de la revista: MEDICINA REPRODUTIVA Año: 2009 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome del Ovario Poliquístico / Receptores de HFE / Receptores de HL / Hormona Liberadora de Gonadotropina Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adult / Female / Humans / Middle aged Idioma: En Revista: Hum Reprod Asunto de la revista: MEDICINA REPRODUTIVA Año: 2009 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido