Association of the 17-hydroxysteroid dehydrogenase type 5 gene polymorphism (-71A/G HSD17B5 SNP) with hyperandrogenemia in polycystic ovary syndrome (PCOS)

Fertility and Sterility

Volumn 92, Issue 2, 2009, Pages 648-652

  Marioli, Dimitra J ^a   Saltamavros, Alexandros D ^a   Vervita, Vasiliki ^a   Koika, Vasiliki ^a   Adonakis, George ^a   Decavalas, George ^a   Markou, Kostas B ^a   Georgopoulos, Neoklis A ^a  

^a UNIVERSITY OF PATRAS   (Greece)

Author keywords

17 hydroxysteroid dehydrogenase type V gene; HSD17B5 gene polymorphisms; PCOS; Polycystic ovary syndrome

Indexed keywords

ANDROSTENEDIONE; HYDROXYSTEROID DEHYDROGENASE; TESTOSTERONE;

ADULT; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; CAUCASIAN; CONTROLLED STUDY; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; GREECE; HUMAN; HYPERANDROGENISM; MAJOR CLINICAL STUDY; OVARY POLYCYSTIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; TESTOSTERONE BLOOD LEVEL;

COMORBIDITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GREECE; HUMANS; HYDROXYSTEROID DEHYDROGENASES; HYPERANDROGENISM; INCIDENCE; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK ASSESSMENT; RISK FACTORS; YOUNG ADULT;

EID: 67651112077     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.06.016     Document Type: Article

References (19)

1. Azziz R., Woods K.S., Reyna R., Key T.J., Knochenhauer E.S., and Yildiz B.O. The prevalence and features of the polycystic ovarian syndrome in an unselected population. J Clin Endocrinol Metab 98 (2004) 2745-2749
2. Carmina E., and Lobo R.A. Polycystic ovary syndrome (PCOS): arguably the most common endocrinopathy is associated with significant morbidity in women. J Clin Endocrinol Metab 84 (1999) 1897-1899
3. Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group 2004. Revised 2003 consensus on the diagnostic criteria and long term health risks related to polycystic ovary syndrome. Fertil Steril 81 (2003) 19-25
4. Escobar-Morreale H.F., Luque-Ramirez M., and San Millan J.L. The molecular genetic basis of functional hyperandrogenism and the polycystic ovary syndrome. Endocr Rev 26 (2005) 251-282
5. Azziz R., and Kashar-Miller M.D. Family history as a risk factor for the polycystic ovary syndrome. J Pediatr Endocrinol Metab 13 (2000) 1303-1306
6. Kashar-Miller M., and Azziz R. Heritability and the risk of developing androgen excess. J Steroid Biochem Mol Biol 69 (1999) 261-268
7. DiamantiKantarakis E., and Piperi C. Genetics of polycystic ovary syndrome: searching the way out of the labyrinth. Hum Reprod 11 (2005) 631-643
8. Qin K., Ehrmann D.A., Cox N., Refetoff S., and Rosenfield R.L. Identification of a functional polymorphism of the human type 5 17β-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome. J Clin Endocrinol Metab 91 (2006) 270-278
9. Goodarzi MO., Jones M.R., Antoine H.J., Pall M., Chen Y.I., and Azziz R. Non-replication of the type 5 17β-Hydroxysteroid dehydrogenase gene association with polycystic ovary syndrome. J Clin Endocrin Metab 93 (2008) 300-303
10. Petry C.J., Ong K.K., Wingate D.L., Zegher F., Ibanez L., and Dunger D.B. Lack of association between common polymorphisms in the 17β-hydroxysteroid dehydrogenase type V gene (HSD17B5) and precocious pubarche. J Steroid Biochem Mol Biol 105 (2007) 176-180
11. Zawadski J.K., and Dunaif A. Diagnostic criteria for polycystic ovary syndrome: toward a rational approach. In: Dunaif A., Givens J.R., Haseltine F.P., and Merriam G.R. (Eds). Polycystic ovary syndrome (1992), Blackwell Scientific, Boston 377-384
12. Azziz R. Controversy in clinical endocrinology. Diagnosis of polycystic ovarian syndrome: the Rotterdam criteria are premature. J Clin Endocrin Metab 91 (2006) 781-785
13. Welt C.K., Gudmundsson J.A., Arason G., Adams J., Palsdottir H., Gudlaugsdottir G., et al. Characterizing different subsets of polycystic ovary syndrome as defined by the Rotterdam criteria: the impact of weight on phenotype and metabolic features. J Clin Endocrin Metab 91 (2006) 4842-4848
14. Cardon L.R., and Palmer L.J. Population stratification and spurious allelic association. Lancet 361 (2003) 598-604
15. Freeman M.L., Reich D., Penney K.L., MacDonald G.J., Mignault A.A., Patterson N., et al. Assessing the impact of population stratification on genetic association studies. Nat Genet 36 (2004) 388-393
16. Keita S., Kittles R.A., Royal C.D., Bonney G.E., Fuurbert-Harris P., Dunston G.M., et al. Conceptualizing human variation. Nat Genet 36 Suppl (2004) 517-520
17. Azziz R, Carmina E, Dewailly D, DiamantiKandarakis E, Escobar-Morreale HF, Futterweit W. et al. Position statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an Androgen Excess Society guideline. J Clin Endocrinol Metab 91:4237-45.
18. n at -528 base pairs of gene CYP11α influences hyperandrogenemia in patients with polycystic ovarian syndrome. Fertil Steril 73 (2000) 735-745
19. Ehrmann D.A., Barnes B.B., and Rosenfield R. Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion. Endocr Rev 16 (1995) 322-353