title: A digenic combination of polymorphisms within ESR1 and ESR2 genes are associated with age at menarche in the Spanish population.
abstract: 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.
authors.affiliation: Servicio de Ginecología y Obstetricia, Hospital Universitario Virgen de las Nieves, Granada, Spain.
authors.forename: Nicolás
authors.initials: N
authors.lastname: Mendoza
authors.forename: Francisco Jesús
authors.initials: FJ
authors.lastname: Morón
authors.forename: Francisco
authors.initials: F
authors.lastname: Quereda
authors.forename: Francisco
authors.initials: F
authors.lastname: Vázquez
authors.forename: Mari C
authors.initials: MC
authors.lastname: Rivero
authors.forename: Txantón
authors.initials: T
authors.lastname: Martínez-Astorquiza
authors.forename: Luis M
authors.initials: LM
authors.lastname: Real
authors.forename: Rafael
authors.initials: R
authors.lastname: Sánchez-Borrego
authors.forename: Antonio
authors.initials: A
authors.lastname: González-Pérez
authors.forename: Agustín
authors.initials: A
authors.lastname: Ruiz
mesh_terms: D000293:Adolescent; D000367:Age Factors; D000368:Aged; D000375:Aging / Q000235:genetics* / Q000378:metabolism; D002648:Child; D004843:Epistasis, Genetic; D047628:Estrogen Receptor alpha / Q000235:genetics* / Q000378:metabolism; D047629:Estrogen Receptor beta / Q000235:genetics* / Q000378:metabolism; D004967:Estrogens / Q000096:biosynthesis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008572:Menarche / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D017698:Postmenopause / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics; D013030:Spain
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D004967:Estrogens