The 121Q allele of the plasma cell membrane glycoprotein 1 gene predisposes to polycystic ovary syndrome.
The K121Q polymorphism of the plasma cell membrane glycoprotein 1 gene was significantly associated with polycystic ovary syndrome (PCOS) susceptibility, the pooled genotype distribution (K121K vs. 121Q allele) having an odds ratio of 1.90 (95% confidence interval 1.11-3.26). This suggests that impaired insulin signaling is of etiologic importance in PCOS.
Heinonen
Seppo
S
Department of Obstetrics and Gynecology, Kuopio University Hospital, 70211 Kuopio, Finland. seppo.heinonen@kuh.fi
Korhonen
Seija
S
Helisalmi
Seppo
S
Koivunen
Riitta
R
Tapanainen
Juha S
JS
Laakso
Markku
M
D000483:Alleles; D019943:Amino Acid Substitution; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics*
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases