Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study

Detalhes bibliográficos
Autor(a) principal: Santos, Betânia Rodrigues dos
Data de Publicação: 2018
Outros Autores: Lecke, Sheila Bünecker, Spritzer, Poli Mara
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/179668
Resumo: Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors. Lower vitamin D levels have been detected in PCOS women and related to hormone and metabolic disturbances. Vitamin D acts in tissues through the vitamin D receptor (VDR). VDR gene variants have been associated with worse metabolic profile in the general population. We investigated the genotype and haplotype distribution of the Bsm-I (rs1544410), Apa-I (rs7975232), and Taq-I (rs731236) VDR gene polymorphisms in PCOS and non-hirsute women from southern Brazil. We further investigated the associations of these gene variants and their haplotypes with PCOS, vitamin D levels, and metabolic abnormalities, including the metabolic syndrome (MetS). Methods: A group of 191 women with PCOS (Rotterdam criteria) and 100 non-hirsute controls with regular ovulatory cycles were genotyped for all polymorphisms by real-time PCR, with allelic discrimination assays. MetS and the cutoffs for its isolated components were defined in accordance with the Joint Scientific Statement. Results: Women with PCOS were younger and had significantly higher BMI and total testosterone levels than controls (p < 0.05). The frequency of MetS in PCOS and controls was 26.5% and 4.8% respectively. The CC genotype of Apa-I entailed higher risk of MetS in PCOS (OR: 2.133; 95% CI 1.020–4.464, p = 0.042), and was associated with higher systolic blood pressure (p = 0.009), total cholesterol (p = 0.040), and LDL-cholesterol (p = 0.038) in both PCOS and control groups (two-way ANOVA). The frequencies of VDR haplotypes were similar in PCOS and control women. Conclusions: The present results suggest that the Apa-I variant in VDR gene may be associated with MetS in southern Brazilian women with PCOS, and with blood pressure, total cholesterol, and LDL-c in women with and without PCOS
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spelling Santos, Betânia Rodrigues dosLecke, Sheila BüneckerSpritzer, Poli Mara2018-06-22T02:29:46Z20181477-7827http://hdl.handle.net/10183/179668001069652Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors. Lower vitamin D levels have been detected in PCOS women and related to hormone and metabolic disturbances. Vitamin D acts in tissues through the vitamin D receptor (VDR). VDR gene variants have been associated with worse metabolic profile in the general population. We investigated the genotype and haplotype distribution of the Bsm-I (rs1544410), Apa-I (rs7975232), and Taq-I (rs731236) VDR gene polymorphisms in PCOS and non-hirsute women from southern Brazil. We further investigated the associations of these gene variants and their haplotypes with PCOS, vitamin D levels, and metabolic abnormalities, including the metabolic syndrome (MetS). Methods: A group of 191 women with PCOS (Rotterdam criteria) and 100 non-hirsute controls with regular ovulatory cycles were genotyped for all polymorphisms by real-time PCR, with allelic discrimination assays. MetS and the cutoffs for its isolated components were defined in accordance with the Joint Scientific Statement. Results: Women with PCOS were younger and had significantly higher BMI and total testosterone levels than controls (p < 0.05). The frequency of MetS in PCOS and controls was 26.5% and 4.8% respectively. The CC genotype of Apa-I entailed higher risk of MetS in PCOS (OR: 2.133; 95% CI 1.020–4.464, p = 0.042), and was associated with higher systolic blood pressure (p = 0.009), total cholesterol (p = 0.040), and LDL-cholesterol (p = 0.038) in both PCOS and control groups (two-way ANOVA). The frequencies of VDR haplotypes were similar in PCOS and control women. Conclusions: The present results suggest that the Apa-I variant in VDR gene may be associated with MetS in southern Brazilian women with PCOS, and with blood pressure, total cholesterol, and LDL-c in women with and without PCOSapplication/pdfengReproductive biology and endocrinology. London. Vol. 16 (2018), 38, [8 p.]Síndrome do ovário policísticoReceptores de calcitriolSíndrome metabólicaPolimorfismo genéticoPCOSVitamin D receptorGene polymorphismsMetabolic syndromeApa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional studyEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL001069652.pdf001069652.pdfTexto completo (inglês)application/pdf669841http://www.lume.ufrgs.br/bitstream/10183/179668/1/001069652.pdf5af97bee1dbbcb95f51b7281335c93fbMD51TEXT001069652.pdf.txt001069652.pdf.txtExtracted Texttext/plain36812http://www.lume.ufrgs.br/bitstream/10183/179668/2/001069652.pdf.txtf3d3060533087ab78727d9e229c7ca26MD5210183/1796682018-06-23 03:31:34.532765oai:www.lume.ufrgs.br:10183/179668Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2018-06-23T06:31:34Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
title Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
spellingShingle Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
Santos, Betânia Rodrigues dos
Síndrome do ovário policístico
Receptores de calcitriol
Síndrome metabólica
Polimorfismo genético
PCOS
Vitamin D receptor
Gene polymorphisms
Metabolic syndrome
title_short Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
title_full Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
title_fullStr Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
title_full_unstemmed Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
title_sort Apa-I polymorphism in VDR gene is related to metabolic syndrome in polycystic ovary syndrome : a cross-sectional study
author Santos, Betânia Rodrigues dos
author_facet Santos, Betânia Rodrigues dos
Lecke, Sheila Bünecker
Spritzer, Poli Mara
author_role author
author2 Lecke, Sheila Bünecker
Spritzer, Poli Mara
author2_role author
author
dc.contributor.author.fl_str_mv Santos, Betânia Rodrigues dos
Lecke, Sheila Bünecker
Spritzer, Poli Mara
dc.subject.por.fl_str_mv Síndrome do ovário policístico
Receptores de calcitriol
Síndrome metabólica
Polimorfismo genético
topic Síndrome do ovário policístico
Receptores de calcitriol
Síndrome metabólica
Polimorfismo genético
PCOS
Vitamin D receptor
Gene polymorphisms
Metabolic syndrome
dc.subject.eng.fl_str_mv PCOS
Vitamin D receptor
Gene polymorphisms
Metabolic syndrome
description Background: Polycystic ovary syndrome (PCOS) is a common endocrine disorder determined by polygenic traits as well as environmental factors. Lower vitamin D levels have been detected in PCOS women and related to hormone and metabolic disturbances. Vitamin D acts in tissues through the vitamin D receptor (VDR). VDR gene variants have been associated with worse metabolic profile in the general population. We investigated the genotype and haplotype distribution of the Bsm-I (rs1544410), Apa-I (rs7975232), and Taq-I (rs731236) VDR gene polymorphisms in PCOS and non-hirsute women from southern Brazil. We further investigated the associations of these gene variants and their haplotypes with PCOS, vitamin D levels, and metabolic abnormalities, including the metabolic syndrome (MetS). Methods: A group of 191 women with PCOS (Rotterdam criteria) and 100 non-hirsute controls with regular ovulatory cycles were genotyped for all polymorphisms by real-time PCR, with allelic discrimination assays. MetS and the cutoffs for its isolated components were defined in accordance with the Joint Scientific Statement. Results: Women with PCOS were younger and had significantly higher BMI and total testosterone levels than controls (p < 0.05). The frequency of MetS in PCOS and controls was 26.5% and 4.8% respectively. The CC genotype of Apa-I entailed higher risk of MetS in PCOS (OR: 2.133; 95% CI 1.020–4.464, p = 0.042), and was associated with higher systolic blood pressure (p = 0.009), total cholesterol (p = 0.040), and LDL-cholesterol (p = 0.038) in both PCOS and control groups (two-way ANOVA). The frequencies of VDR haplotypes were similar in PCOS and control women. Conclusions: The present results suggest that the Apa-I variant in VDR gene may be associated with MetS in southern Brazilian women with PCOS, and with blood pressure, total cholesterol, and LDL-c in women with and without PCOS
publishDate 2018
dc.date.accessioned.fl_str_mv 2018-06-22T02:29:46Z
dc.date.issued.fl_str_mv 2018
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dc.identifier.issn.pt_BR.fl_str_mv 1477-7827
dc.identifier.nrb.pt_BR.fl_str_mv 001069652
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dc.language.iso.fl_str_mv eng
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dc.relation.ispartof.pt_BR.fl_str_mv Reproductive biology and endocrinology. London. Vol. 16 (2018), 38, [8 p.]
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