TY - JOUR
T1 - A digenic combination of polymorphisms within ESR1 and ESR2 genes are associated with age at menarche in the Spanish population
AU - Mendoza, Nicolás
AU - Morón, Francisco Jesús
AU - Quereda, Francisco
AU - Vázquez, Francisco
AU - Rivero, Mari C.
AU - Martínez-Astorquiza, Txantón
AU - Real, Luis M.
AU - Sánchez-Borrego, Rafael
AU - González-Pérez, Antonio
AU - Ruiz, Agustín
PY - 2008/4
Y1 - 2008/4
N2 - In the present study, the authors look at an association of genetic variants within estrogen synthesis and signaling pathways and age at menarche (AAM) in Spanish women. They analyzed 9 polymorphisms in 6 different genes in 714 well-characterized postmenopausal women from Spain. They performed a quantitative trait locus study of these markers individually or in digenic combinations in relation to AAM. None of the studied markers, with the exception of the follicle-stimulating hormone receptor (P =.013), were significantly associated with AAM in the Spanish population, and no marker demonstrated an association of statistical significance after multiple testing corrections (P >.0055). In contrast, linear regression analysis suggests epistatic interactions including ESR1 and ESR2 loci in relation to AAM in the series (P =.003). The results suggest that epistatic interactions of ESR1 and ESR2 alleles could be associated with advancing AAM among Spanish women.
AB - In the present study, the authors look at an association of genetic variants within estrogen synthesis and signaling pathways and age at menarche (AAM) in Spanish women. They analyzed 9 polymorphisms in 6 different genes in 714 well-characterized postmenopausal women from Spain. They performed a quantitative trait locus study of these markers individually or in digenic combinations in relation to AAM. None of the studied markers, with the exception of the follicle-stimulating hormone receptor (P =.013), were significantly associated with AAM in the Spanish population, and no marker demonstrated an association of statistical significance after multiple testing corrections (P >.0055). In contrast, linear regression analysis suggests epistatic interactions including ESR1 and ESR2 loci in relation to AAM in the series (P =.003). The results suggest that epistatic interactions of ESR1 and ESR2 alleles could be associated with advancing AAM among Spanish women.
KW - Association studies
KW - Complex traits
KW - Epistatic interaction
KW - Menarche
KW - SNPs
UR - https://www.scopus.com/pages/publications/42249085589
UR - https://www.scopus.com/pages/publications/42249085589#tab=citedBy
U2 - 10.1177/1933719107314064
DO - 10.1177/1933719107314064
M3 - Article
C2 - 18421025
AN - SCOPUS:42249085589
SN - 1933-7191
VL - 15
SP - 305
EP - 311
JO - Reproductive Sciences
JF - Reproductive Sciences
IS - 3
ER -