Περίληψη:
Polycystic ovary syndrome (PCOS) is a common, highly heritable complex
disorder of unknown aetiology characterized by hyperandrogenism, chronic
anovulation and defects in glucose homeostasis. Increased luteinizing
hormone relative to follicle-stimulating hormone secretion, insulin
resistance and developmental exposure to androgens are hypothesized to
play a causal role in PCOS. Here we map common genetic susceptibility
loci in European ancestry women for the National Institutes of Health
PCOS phenotype, which confers the highest risk for metabolic
morbidities, as well as reproductive hormone levels. Three loci reach
genome-wide significance in the case-control meta-analysis, two novel
loci mapping to chr 8p32.1 and chr 11p14.1, and a chr 9q22.32 locus
previously found in Chinese PCOS. The same chr 11p14.1 SNP, rs11031006,
in the region of the follicle-stimulating hormone B polypeptide (FSHB)
gene strongly associates with PCOS diagnosis and luteinizing hormone
levels. These findings implicate neuroendocrine changes in disease
pathogenesis.
Συγγραφείς:
Hayes, M. Geoffrey
Urbanek, Margrit
Ehrmann, David A. and
Armstrong, Loren L.
Lee, Ji Young
Sisk, Ryan
Karaderi, Tugce
and Barber, Thomas M.
McCarthy, Mark I.
Franks, Stephen and
Lindgren, Cecilia M.
Welt, Corrine K.
Diamanti-Kandarakis,
Evanthia
Panidis, Dimitrios
Goodarzi, Mark O.
Azziz, Ricardo
and Zhang, Yi
James, Roland G.
Olivier, Michael
Kissebah,
Ahmed H.
Stener-Victorin, Elisabet
Legro, Richard S.
Dunaif,
Andrea
Reprod Med Network
