PMID- 19030709 OWN - NLM STAT- MEDLINE DCOM- 20090707 LR - 20190606 IS - 1414-431X (Electronic) IS - 0100-879X (Linking) VI - 41 IP - 10 DP - 2008 Oct TI - Estrogen receptor 1 gene polymorphisms in premenopausal women: interaction between genotype and smoking on lipid levels. PG - 872-6 LID - S0100-879X2008001000007 [pii] AB - Estrogen has multiple effects on lipid and lipoprotein metabolism. We investigated the association between the four common single nucleotide polymorphisms in the estrogen receptor 1 (ESR1) gene locus, -1989T>G, +261G>C, IVS1-397T>C and IVS1-351A>G, and lipid and lipoprotein levels in southern Brazilians. The sample consisted in 150 men and 187 premenopausal women. The women were considered premenopausal if they had regular menstrual bleeding within the previous 3 months and were 18-50 years of age. Exclusion criteria were pregnancy, secondary hyperlipidemia due to renal, hepatic or thyroid disease, and diabetes. Smoking status was self-reported; subjects were classified as never smoked and current smokers. DNA was amplified by PCR and was subsequently digested with the appropriate restriction enzymes. Statistical analysis was carried out for men and women separately. In the study population, major allele frequencies were _1989*T (0.83), +261*G (0.96), IVS1-397*T (0.58), and IVS1-351*A (0.65). Multiple linear regression analyses indicated that an interaction between +261G>C polymorphism and smoking was a significant factor affecting high-density lipoprotein cholesterol (HDL-C) levels (P = 0.028) in women. Nonsmoking women with genotype G/C of +261G>C polymorphism had mean HDL-C levels higher than those with G/G genotype (1.40 +/- 0.33 vs 1.22 +/- 0.26 mmol/L; P = 0.033). No significant associations with lipid and lipoprotein levels in women and men were detected for other polymorphisms. In conclusion, the +261G>C polymorphism might influence lipoprotein and lipid levels in premenopausal women, but these effects seem to be modulated by smoking, whereas in men ESR1 polymorphisms were not associated with high lipoprotein levels. FAU - Almeida, S AU - Almeida S AD - Departamento de Genetica, Instituto de Biociencias, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil. FAU - Hutz, M H AU - Hutz MH LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Brazil TA - Braz J Med Biol Res JT - Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas JID - 8112917 RN - 0 (Estrogen Receptor alpha) RN - 0 (Lipids) SB - IM MH - Adult MH - Estrogen Receptor alpha/*genetics MH - Female MH - Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Lipids/*blood MH - Male MH - Middle Aged MH - Polymerase Chain Reaction MH - Polymorphism, Single Nucleotide/*genetics MH - Premenopause/blood/*genetics MH - Smoking/blood/*genetics MH - Young Adult EDAT- 2008/11/26 09:00 MHDA- 2009/07/08 09:00 CRDT- 2008/11/26 09:00 PHST- 2008/04/22 00:00 [received] PHST- 2008/10/21 00:00 [accepted] PHST- 2008/11/26 09:00 [pubmed] PHST- 2009/07/08 09:00 [medline] PHST- 2008/11/26 09:00 [entrez] AID - S0100-879X2008001000007 [pii] AID - 10.1590/s0100-879x2008001000007 [doi] PST - ppublish SO - Braz J Med Biol Res. 2008 Oct;41(10):872-6. doi: 10.1590/s0100-879x2008001000007.