Vitamin D receptor 1a promotor -1521 G/C and -1012 A/G polymorphisms in polycystic ovary syndrome

Ming Wei Lin, Shaw-Jenq Tsai, Pei Yi Chou, Mei Feng Huang, Hsiao-Fang Sun, Meng-Hsing Wu

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Objective: The aim of this case-control study was to investigate whether the vitamin D receptor (VDR) 1a promoter gene polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). Methods: Women with PCOS and a control group, all aged 18-45 years, were enrolled. Genotypes of two functional single nucleotide polymorphisms (SNPs), the 1521 bp (G/C) and 1012 bp (A/G), located on the 1a promoter of the VDR gene were determined by using direct sequencing. Serum 25-hydroxyvitamin D levels were measured by ELISA. Results: Two functional SNPs in the 1a promoter region of the VDR gene were in complete linkage disequilibrium. The genotype distributions of these two polymorphisms in the PCOS group were not significantly different from those of the control group. Further subgroup analyses according to body mass index also revealed no significant differences in the genotype distribution in the PCOS group. Significantly lower serum 25-hydroxyvitamin D levels were observed in the heterozygous 1521CG/1012GA haplotype of both groups. Metformin treatment was only effective to increase serum 25-hydroxyvitamin D levels in PCOS patients carrying the homozygous 1521G/1012A haplotype. Conclusion: These results suggest that the VDR 1a promoter polymorphisms may not be associated with the risk for PCOS, but are associated with serum 25-hydroxyvitamin D levels. Metformin treatment will be beneficial to PCOS patients without the VDR 1a promoter variant in Taiwanese population.

Original languageEnglish
Pages (from-to)565-571
Number of pages7
JournalTaiwanese Journal of Obstetrics and Gynecology
Volume51
Issue number4
DOIs
Publication statusPublished - 2012 Dec 1

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Calcitriol Receptors
Polycystic Ovary Syndrome
Metformin
Genotype
Serum
Haplotypes
Single Nucleotide Polymorphism
Genes
Control Groups
Linkage Disequilibrium
desertomycin A
Genetic Promoter Regions
Case-Control Studies
Body Mass Index
Enzyme-Linked Immunosorbent Assay
25-hydroxyvitamin D
Therapeutics
Population

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology

Cite this

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title = "Vitamin D receptor 1a promotor -1521 G/C and -1012 A/G polymorphisms in polycystic ovary syndrome",
abstract = "Objective: The aim of this case-control study was to investigate whether the vitamin D receptor (VDR) 1a promoter gene polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). Methods: Women with PCOS and a control group, all aged 18-45 years, were enrolled. Genotypes of two functional single nucleotide polymorphisms (SNPs), the 1521 bp (G/C) and 1012 bp (A/G), located on the 1a promoter of the VDR gene were determined by using direct sequencing. Serum 25-hydroxyvitamin D levels were measured by ELISA. Results: Two functional SNPs in the 1a promoter region of the VDR gene were in complete linkage disequilibrium. The genotype distributions of these two polymorphisms in the PCOS group were not significantly different from those of the control group. Further subgroup analyses according to body mass index also revealed no significant differences in the genotype distribution in the PCOS group. Significantly lower serum 25-hydroxyvitamin D levels were observed in the heterozygous 1521CG/1012GA haplotype of both groups. Metformin treatment was only effective to increase serum 25-hydroxyvitamin D levels in PCOS patients carrying the homozygous 1521G/1012A haplotype. Conclusion: These results suggest that the VDR 1a promoter polymorphisms may not be associated with the risk for PCOS, but are associated with serum 25-hydroxyvitamin D levels. Metformin treatment will be beneficial to PCOS patients without the VDR 1a promoter variant in Taiwanese population.",
author = "Lin, {Ming Wei} and Shaw-Jenq Tsai and Chou, {Pei Yi} and Huang, {Mei Feng} and Hsiao-Fang Sun and Meng-Hsing Wu",
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Vitamin D receptor 1a promotor -1521 G/C and -1012 A/G polymorphisms in polycystic ovary syndrome. / Lin, Ming Wei; Tsai, Shaw-Jenq; Chou, Pei Yi; Huang, Mei Feng; Sun, Hsiao-Fang; Wu, Meng-Hsing.

In: Taiwanese Journal of Obstetrics and Gynecology, Vol. 51, No. 4, 01.12.2012, p. 565-571.

Research output: Contribution to journalArticle

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AU - Lin, Ming Wei

AU - Tsai, Shaw-Jenq

AU - Chou, Pei Yi

AU - Huang, Mei Feng

AU - Sun, Hsiao-Fang

AU - Wu, Meng-Hsing

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N2 - Objective: The aim of this case-control study was to investigate whether the vitamin D receptor (VDR) 1a promoter gene polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). Methods: Women with PCOS and a control group, all aged 18-45 years, were enrolled. Genotypes of two functional single nucleotide polymorphisms (SNPs), the 1521 bp (G/C) and 1012 bp (A/G), located on the 1a promoter of the VDR gene were determined by using direct sequencing. Serum 25-hydroxyvitamin D levels were measured by ELISA. Results: Two functional SNPs in the 1a promoter region of the VDR gene were in complete linkage disequilibrium. The genotype distributions of these two polymorphisms in the PCOS group were not significantly different from those of the control group. Further subgroup analyses according to body mass index also revealed no significant differences in the genotype distribution in the PCOS group. Significantly lower serum 25-hydroxyvitamin D levels were observed in the heterozygous 1521CG/1012GA haplotype of both groups. Metformin treatment was only effective to increase serum 25-hydroxyvitamin D levels in PCOS patients carrying the homozygous 1521G/1012A haplotype. Conclusion: These results suggest that the VDR 1a promoter polymorphisms may not be associated with the risk for PCOS, but are associated with serum 25-hydroxyvitamin D levels. Metformin treatment will be beneficial to PCOS patients without the VDR 1a promoter variant in Taiwanese population.

AB - Objective: The aim of this case-control study was to investigate whether the vitamin D receptor (VDR) 1a promoter gene polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). Methods: Women with PCOS and a control group, all aged 18-45 years, were enrolled. Genotypes of two functional single nucleotide polymorphisms (SNPs), the 1521 bp (G/C) and 1012 bp (A/G), located on the 1a promoter of the VDR gene were determined by using direct sequencing. Serum 25-hydroxyvitamin D levels were measured by ELISA. Results: Two functional SNPs in the 1a promoter region of the VDR gene were in complete linkage disequilibrium. The genotype distributions of these two polymorphisms in the PCOS group were not significantly different from those of the control group. Further subgroup analyses according to body mass index also revealed no significant differences in the genotype distribution in the PCOS group. Significantly lower serum 25-hydroxyvitamin D levels were observed in the heterozygous 1521CG/1012GA haplotype of both groups. Metformin treatment was only effective to increase serum 25-hydroxyvitamin D levels in PCOS patients carrying the homozygous 1521G/1012A haplotype. Conclusion: These results suggest that the VDR 1a promoter polymorphisms may not be associated with the risk for PCOS, but are associated with serum 25-hydroxyvitamin D levels. Metformin treatment will be beneficial to PCOS patients without the VDR 1a promoter variant in Taiwanese population.

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