Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome.
OBJECTIVE
To investigate polymorphisms in androgen metabolism regulators that are implicated in the etiology of polycystic ovary syndrome (PCOS) in vitro; to investigate HSD17B6 and GATA6 to determine whether these genes are associated with susceptibility to PCOS or key phenotypic features of patients with PCOS.


METHODS
Case-control association study.


METHODS
Participants with PCOS were recruited from a clinical-practice database, and controls, from the general community.


METHODS
One hundred seventy-three patients with PCOS and who were of Caucasian descent and conformed to the National Institutes of Health (NIH) diagnostic criteria; 107 normally ovulating women of Caucasian descent from the general community.


METHODS
Drawing of blood for DNA extraction.


METHODS
Frequency of HSD17B6 and GATA6 polymorphisms in cases and controls. Association of single-nucleotide polymorphisms from HSD17B6 in subjects with PCOS with key phenotypes of PCOS: androgen status, insulin resistance, and body mass index.


RESULTS
Allele distribution for the single-nucleotide polymorphism rs898611 in HSD17B6 was significantly different between PCOS and control subjects (P=.03). Presence of the polymorphic allele was associated with reduced fasting glucose-insulin ratio (P=.02) and increased homeostasis model assessment (P<.01) and body mass index (P<.001) as well as with reduced T (P=.03) in the PCOS group. No association was seen between GATA6 and any of the variables studied.


CONCLUSIONS
These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.
Jones
Michelle R
MR
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Italiano
Lisa
L
Wilson
Scott G
SG
Mullin
Ben H
BH
Mead
Robert
R
Dudbridge
Frank
F
Watts
Gerald F
GF
Stuckey
Bronwyn G A
BG
D000328:Adult; D015331:Cohort Studies; D005260:Female; D050993:GATA6 Transcription Factor / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D019998:Racemases and Epimerases / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors; D014904:Western Australia / Q000453:epidemiology
D050993:GATA6 Transcription Factor; C494759:GATA6 protein, human; D005819:Genetic Markers; C414602:HSD17B6 protein, human; D019998:Racemases and Epimerases