PMID- 26634548 OWN - NLM STAT- MEDLINE DCOM- 20160915 LR - 20161126 IS - 1676-5680 (Electronic) IS - 1676-5680 (Linking) VI - 14 IP - 4 DP - 2015 Dec 2 TI - Polymorphisms in CYP17, COMT, and ESR1 genes in women after menopause and association with bone mineral density. PG - 15802-10 LID - 10.4238/2015.December.1.32 [doi] AB - In this study, we evaluated genetic factors related to the mineral density during post-menopause. We evaluated 110 women in the first 5 years post-menopause, without previous hormone replacement therapy. Cytochrome P450 17 (CYP17) (rs743572), catechol-O-methyl transferase (COMT) (rs4680), and estrogen receptor 1 (ESR1) (rs9322331) were examined for the presence of polymorphisms. Clinical data were collected by anamnesis; all patients had the osseous densitometry examined using a lunar instrument to determine mineral osseous densitometry in the lumbar column (L2-L4). CYP17, COMT, and ESR1 genotyping was carried out by polymerase chain reaction with DNA collected from buccal swabs. The average age was 51.96 years. The average weights of the patients in control and osteopenia groups were 70.25 +/- 12.00 and 62.45 +/- 11.64, respectively (P = 0.001) and body mass index (P = 0.006; control: 29.43 +/- 5.25; osteopenia: 26.72 +/- 4.57). Related to CYP17 polymorphisms, 28.18% of women were TT (wild-type homozygous), 60% were TC (heterozygous), and 11.82% were CC (mutated homozygous). Related to COMT polymorphisms, 53.64% of women were GG (wild-type homozygous), 37.27% were GA (heterozygous), and 9.09% were AA (mutated homozygous). Related to ESR1, 53.64% of women were CC (wild-type homozygous), 40.91% were CT (heterozygous), and 5.45% were TT (mutated homozygous). The ESR1 variant allele was significantly higher in the osteopenia group when compared with women in the normal group (P = 0.02). ESR1 may be associated with low mineral osseous densitometry, while CYP17 and COMT gene polymorphisms were not associated with mineral osseous densitometry. FAU - Goncalves, C G AU - Goncalves CG AD - Laboratorio de Ginecologia Molecular e Proteomica, Departamento de Ginecologia, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brasil. FAU - Almeida, B C AU - Almeida BC AD - Laboratorio de Ginecologia Molecular e Proteomica, Departamento de Ginecologia, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brasil. FAU - Camargo-Kosugi, C M AU - Camargo-Kosugi CM AD - Laboratorio de Ginecologia Molecular e Proteomica, Departamento de Ginecologia, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brasil cintiakosugi@gmail.com. FAU - Costa, A M M AU - Costa AM AD - Laboratorio de Ginecologia Molecular e Proteomica, Departamento de Ginecologia, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brasil. FAU - Silva, I D C G AU - Silva ID AD - Laboratorio de Ginecologia Molecular e Proteomica, Departamento de Ginecologia, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brasil. FAU - Haidar, M A AU - Haidar MA AD - Laboratorio de Ginecologia Molecular e Proteomica, Departamento de Ginecologia, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brasil. LA - eng PT - Journal Article DEP - 20151202 PL - Brazil TA - Genet Mol Res JT - Genetics and molecular research : GMR JID - 101169387 RN - 0 (Estrogen Receptor alpha) RN - EC 1.14.14.19 (Steroid 17-alpha-Hydroxylase) RN - EC 2.1.1.6 (COMT protein, human) RN - EC 2.1.1.6 (Catechol O-Methyltransferase) SB - IM MH - Adult MH - Alleles MH - Bone Density/*genetics MH - Bone Diseases, Metabolic/etiology/pathology MH - Catechol O-Methyltransferase/*genetics MH - Estrogen Receptor alpha/*genetics MH - Female MH - *Genetic Association Studies MH - Genotype MH - Humans MH - Middle Aged MH - Odds Ratio MH - *Polymorphism, Single Nucleotide MH - *Postmenopause MH - Risk Factors MH - Steroid 17-alpha-Hydroxylase/*genetics EDAT- 2015/12/05 06:00 MHDA- 2016/09/16 06:00 CRDT- 2015/12/05 06:00 PHST- 2015/12/05 06:00 [entrez] PHST- 2015/12/05 06:00 [pubmed] PHST- 2016/09/16 06:00 [medline] AID - gmr6456 [pii] AID - 10.4238/2015.December.1.32 [doi] PST - epublish SO - Genet Mol Res. 2015 Dec 2;14(4):15802-10. doi: 10.4238/2015.December.1.32.