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Associations between vitamin D receptor gene polymorphisms and ankylosing spondylitis in Chinese Han population: a case–control study

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Abstract

Summary

We assessed whether the vitamin D receptor gene polymorphisms (FokI, BsmI, ApaI, and TaqI) were associated with ankylosing spondylitis (AS) in a Chinese Han population. The TaqI polymorphism G allele was a risk factor in AS susceptibility.

Introduction

Previous studies have found that serum vitamin D levels are declined in patients with AS. The present study aims to evaluate the role of vitamin D receptor (VDR) gene polymorphisms in AS susceptibility in a Chinese Han population.

Methods

Four single nucleotide polymorphisms (SNPs) in the VDR gene (FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236)) were genotyped by the improved multiplex ligase detection reaction (iMLDR) method in 620 AS patients and 620 geographically and ethnically matched healthy controls. Haplotypes were constructed after linkage disequilibrium (LD) analysis.

Results

Statistically significant difference was only found in the TaqI polymorphism between AS patients and controls. The TaqI polymorphism G allele was higher in AS group than that in controls (OR [95 % CI] = 1.624 [1.122–2.352], χ 2 = 6.705, P = 0.006). Linkage disequilibrium has been detected in TaqI and BsmI polymorphisms (D′ = 0.87, r 2 = 0.70). Two novel haplotypes (H1: AC and H2: GT) were significantly associated with the risk of AS, and they play protective and risk roles in AS morbidity, respectively.

Conclusions

The VDR gene TaqI polymorphism G allele may be a risk factor in AS susceptibility.

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Acknowledgments

We wish to thank all the patients and blood donors who participated in the study.

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    Authors and Affiliations

    1. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, People’s Republic of China

      G. Cai, X. Zhang, L. Xin, L. Wang, M. Wang, X. Yang, X. Li, Q. Xia & F. Pan

    2. Department of Rheumatism and Immunity, The First Affiliated Hospital of Anhui Medical University, Hefei, China

      S. Xu & C. Ding

    3. Menzies Research Institute Tasmania, University of Tasmania, Hobart, TAS, Australia

      C. Ding & F. Pan

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    1. G. Cai
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    Correspondence to F. Pan.

    Ethics declarations

    This study conformed to the Declaration of Helsinki, and the design of the work was reviewed and approved by the Ethics Committee of Anhui Medical University. All participants agreed to participate in this study and provided their written informed consents.

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    None.

    Funding

    The study was supported by grants from the National Natural Science Foundation of China (30771849, 30972530, 81273169, and 81573218).

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    G. Cai and X. Zhang contributed equally to this work.

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    Cai, G., Zhang, X., Xin, L. et al. Associations between vitamin D receptor gene polymorphisms and ankylosing spondylitis in Chinese Han population: a case–control study. Osteoporos Int 27, 2327–2333 (2016). https://doi.org/10.1007/s00198-016-3500-3

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