Association of genetic variants in the two isoforms of 5α-reductase, SRD5A1 and SRD5A2, in lean patients with polycystic ovary syndrome.
Eur J Obstet Gynecol Reprod Biol
; 157(2): 175-9, 2011 Aug.
Article
en En
| MEDLINE
| ID: mdl-21530059
ABSTRACT
OBJECTIVE:
Given its role in converting testosterone to dihydrotestosterone and cortisol to dihydrocortisol, 5α-reductase may be important in the pathophysiology of the polycystic ovary syndrome (PCOS). Increased activity of this enzyme has already been demonstrated in ovaries of affected women, and might be caused by genetic alterations. The aim of this study was to analyze representative genetic variants of both isoforms of 5α-reductase with regard to PCOS parameters in lean and obese women. STUDYDESIGN:
We analyzed one single nucleotide polymorphism (SNP) (rs523349) of the isoform 2 (SRD5A2) and one haplotype of the isoform 1 (SRD5A1), consisting of the two SNPs rs39848 and rs3797179, in 249 women with PCOS and 226 healthy women using a 5'-exonuclease-assay. The genotypes were associated with anthropometric, metabolic and hormonal as well as functional tests in these women.RESULTS:
In the investigated haplotype of SRD5A1, the TA variant was associated with an increased frequency of PCOS (P=0.022) and an increased Ferriman-Gallwey Score (hirsutism) (P=0.016) in women with normal weight. The G allele at the examined position of the SRD5A2 showed a decreased frequency of PCOS (P=0.03) in women with normal weight.CONCLUSION:
One of the keys in the development of the PCOS is hyperandrogenism, which might be caused by an increased 5α-reductase activity, as it is often seen in obesity. This mechanism might therefore be of importance in lean PCOS patients and contribute to the clinical findings.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Síndrome del Ovario Poliquístico
/
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa
/
Delgadez
/
Polimorfismo de Nucleótido Simple
/
Colestenona 5 alfa-Reductasa
/
Proteínas de la Membrana
Tipo de estudio:
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Obstet Gynecol Reprod Biol
Año:
2011
Tipo del documento:
Article
País de afiliación:
Austria