title: Association of CYP1A1 and CYP1B1 polymorphisms with bone mineral density variations in postmenopausal Mexican-Mestizo women.
abstract: Herein, we investigated potential associations between polymorphisms of genes related to estrogen metabolism and bone mineral density (BMD) in postmenopausal women. This was a cross-sectional study, in which two hundred and ninety postmenopausal Mexican-Mestizo women were studied. The BMD of the lumbar spine (LS), total hip (TH), and femoral neck (FN) was measured. The distribution of the genetic polymorphisms, including rs1799814 and rs1048943 at CYP1A1 as well as rs1056836 at CYP1B1, were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), single-stranded conformational polymorphism (SSCP), and DNA sequencing. Deviations from Hardy-Weinberg equilibrium (HWE) were tested, and linkage disequilibrium (LD) was calculated by direct correlation (r2). Moreover, haplotype analysis was performed. All polymorphisms were in HWE. The genotype and allele distributions of the three single nucleotide polymorphisms (SNPs) studied showed no significant differences. However, statistical significance was reached when constructing haplotypes. The CG haplotype in CYP1A1 was associated with variations in LS and FN BMD after adjustment for covariates (p = 0.021 and 0.045, respectively), but the association with TH BMD was not significant. These results suggested that the CG haplotype in CYP1A1 may play an important role in the mechanism of osteoporosis and may be useful as a genetic marker.
authors.affiliation: a Departamento de Biología de la Reproducción , Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán" , México D.F , México.
authors.forename: Bertha
authors.initials: B
authors.lastname: Chávez
authors.affiliation: a Departamento de Biología de la Reproducción , Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán" , México D.F , México.
authors.forename: Felipe
authors.initials: F
authors.lastname: Vilchis
authors.affiliation: b Unidad de Medicina Física y Rehabilitación, Región Centro, UMAE Lomas Verdes, Instituto Mexicano del Seguro Social , México D.F , México.
authors.forename: David
authors.initials: D
authors.lastname: Rojano-Mejía
authors.affiliation: c Sección de Posgrado, Escuela Superior de Medicina, Instituto Politécnico Nacional , México D.F , México.|d Subdirección de Enseñanza e Investigación, Centro Médico Nacional 20 de Noviembre, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado , México D.F , México.
authors.forename: Ramón Mauricio
authors.initials: RM
authors.lastname: Coral Vázquez
authors.affiliation: e Unidad de Medicina Familiar No. 20, Instituto Mexicano del Seguro Social , México D.F , México , and.
authors.forename: María Del Carmen
authors.initials: MDC
authors.lastname: Aguirre-García
authors.affiliation: f Unidad de Investigación en Obesidad, Facultad de Medicina, Universidad Nacional Autónoma de México & Clínica de Obesidad, Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán" , México D.F , México.
authors.forename: Patricia
authors.initials: P
authors.lastname: Canto
mesh_terms: D015502:Absorptiometry, Photon; D000368:Aged; D000483:Alleles; D015519:Bone Density; D003430:Cross-Sectional Studies; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics* / Q000378:metabolism; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005272:Femur Neck / Q000000981:diagnostic imaging; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D006621:Hip Joint / Q000000981:diagnostic imaging; D006801:Humans; D007198:Indians, North American; D015810:Linkage Disequilibrium; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008800:Mexico; D008875:Middle Aged; D015663:Osteoporosis, Postmenopausal / Q000000981:diagnostic imaging / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C569463:CYP1A1 protein, human; C585496:CYP1B1 protein, human; D019363:Cytochrome P-450 CYP1A1; D065633:Cytochrome P-450 CYP1B1
keywords: Bone mineral density; CYP1A1; CYP1B1; haplotypes; postmenopausal Mexican-Mestizo women