Polymorphism in postinsulin receptor signaling pathway is not associated with polycystic ovary syndrome.
OBJECTIVE
To investigate polymorphisms in postinsulin receptor signaling. To investigate PIK3R1, SLC2A4, SLC2A4RG, and MEF2A to determine whether these genes are associated with susceptibility to polycystic ovary syndrome (PCOS) or key phenotypic features of insulin resistance in subjects with PCOS.


METHODS
Case-control 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 conforming to the National Institutes of Health (NIH) diagnostic criteria, all of Caucasian descent; 107 normally ovulating women of white descent from the general community.


METHODS
Drawing of blood for DNA extraction.


METHODS
Frequency of PIK3R1, SLC2A4, SLC2A4RG, and MEF2A polymorphisms in case and control subjects.


RESULTS
No significant difference between the frequency of the polymorphisms in case and control women was identified. No single nucleotide polymorphism studied in any of these four genes was associated with the PCOS phenotype.


CONCLUSIONS
Polymorphisms in the PIK3R1, SLC2A4, SLC2A4RG, and MEF2A genes are not associated with key PCOS phenotypes.
Jones
Michelle R
MR
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, University of Western Australia, Nedlands, , Australia.
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; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D051275:Glucose Transporter Type 4 / Q000235:genetics; D006801:Humans; D007328:Insulin / Q000378:metabolism*; D007333:Insulin Resistance / Q000235:genetics*; D026161:MADS Domain Proteins / Q000235:genetics; D064326:MEF2 Transcription Factors; D008875:Middle Aged; D018006:Myogenic Regulatory Factors / Q000235:genetics; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics; D011085:Polycystic Ovary Syndrome / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D011972:Receptor, Insulin / Q000378:metabolism*; D015398:Signal Transduction / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D014904:Western Australia; D055815:Young Adult
D004268:DNA-Binding Proteins; D051275:Glucose Transporter Type 4; D007328:Insulin; D026161:MADS Domain Proteins; D064326:MEF2 Transcription Factors; C578035:MEF2A protein, human; D018006:Myogenic Regulatory Factors; C495692:SLC2A4 protein, human; C480633:SLC2A4RG protein, human; D014157:Transcription Factors; D019869:Phosphatidylinositol 3-Kinases; D011972:Receptor, Insulin