Association of the 17-hydroxysteroid dehydrogenase type 5 gene polymorphism (-71A/G HSD17B5 SNP) with hyperandrogenemia in polycystic ovary syndrome (PCOS).
OBJECTIVE
To evaluate the association of an activating single-nucleotide polymorphism (SNP) at position -71 of the promoter of 17beta-hydroxysteroid dehydrogenase type 5 gene (-71A/G HSD17B5 SNP) and polycystic ovary syndrome (PCOS) in a well characterized cohort of caucasian PCOS women with biochemical hyperandrogenemia.


METHODS
The PCOS patients and unrelated healthy control subjects were genotyped for the -71A/G HSD17B5 SNP. The acquired genotypic data was tested for association with PCOS and other quantitative phenotypic traits of the syndrome in PCOS patients.


METHODS
Subjects were recruited from the Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology, at the University Hospital of Patras, Greece. Genotyping and biochemical determinations took place at the Laboratory of Molecular Endrocinology, University of Patras Medical School, Rion, Greece.


METHODS
Participants comprised 150 caucasian Greek PCOS women with biochemical hyperandrogenism and chronic anovulation and polycystic ovarian morphology on ultrasound and 51 healthy control subjects.


METHODS
HSD17B5 genotype, serum testosterone, serum androstenedione.


RESULTS
No association of the -71A/G HSD17B5 SNP with PCOS was detected. However, the -71G HSD17B5 variant was associated with increased serum testosterone levels and decreased androstenedione/testosterone ratio.


CONCLUSIONS
The -71G HSD17B5 variant is not a major component of the molecular pathogenetic mechanisms of PCOS, although it might contribute to the severity of hyperandrogenemia in women with PCOS and biochemical hyperandrogenism.
Marioli
Dimitra J
DJ
Division of Reproductive Endocrinology, University of Patras Medical School, University Hospital, Patras, Greece.
Saltamavros
Alexandros D
AD
Vervita
Vasiliki
V
Koika
Vasiliki
V
Adonakis
George
G
Decavalas
George
G
Markou
Kostas B
KB
Georgopoulos
Neoklis A
NA
D015897:Comorbidity; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006115:Greece / Q000453:epidemiology; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics*; D017588:Hyperandrogenism / Q000453:epidemiology* / Q000235:genetics*; D015994:Incidence; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D055815:Young Adult
D006913:Hydroxysteroid Dehydrogenases; C035507:3(17)-hydroxysteroid dehydrogenase