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PPARGC1B gene is associated with Kashin-Beck disease in Han Chinese

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Abstract

Kashin-Beck disease (KBD) is a chronic osteochondropathy. The genetic basis of KBD remains elusive now. To investigate the relationship between PPARGC1B gene polymorphism and KBD, we conducted a two-stage association study using 2743 unrelated Han Chinese subjects. In the first stage, three SNPs rs1078324, rs4705372, and rs11743128 of PPARGC1B gene were genotyped in 559 KBD patients and 467 health controls using Sequenom MassARRAY platform. In the second stage, the association analysis results of PPARGC1B with KBD were replicated using an independent sample of 1717 subjects. SNP association analysis was conducted by PLINK software. Genotype imputation was conducted by IMPUTE 2.0 against the reference panel of the 1000 genome project. Bonferroni multiple testing correction was performed. We observed a significant association signal at rs4705372 (P = 0.0160) and a suggestive association signal at rs11743128 (P = 0.0290). Further replication study confirmed the association signals of rs4705372 (P = 0.0026) and rs11743128 (P = 0.0387) in the independent validation sample. Our study results suggest that PPARGC1B is a novel susceptibility gene of KBD.

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Acknowledgments

The study was supported by National Natural Scientific Fund of China (81472925) and the Fundamental Research Funds for the Central Universities.

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Authors and Affiliations

  1. Key Laboratory of Trace Elements and Endemic Diseases of National Health and Family Planning Commission, School of Public Health, Health Science Center, Xi’an Jiaotong University, Xi’an, People’s Republic of China

    Yan Wen, Jingcan Hao, Xiao Xiao, Wenyu Wang, Xiong Guo & Feng Zhang

  2. Department of Nephrology and Traditional Chinese Medicine, The People’s Liberating Army 451 Hospital, Xi’an, People’s Republic of China

    Weimin Lin

  3. Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, People’s Republic of China

    Tielin Yang & Xiaogang Liu

  4. Department of Biostatistics and Bioinformatics, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, USA

    Hui Shen, Qing Tian & Hong-Wen Deng

  5. Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA, USA

    Hui Shen, Qing Tian & Hong-Wen Deng

  6. Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, People’s Republic of China

    Lijun Tan & Xiangding Chen

Authors
  1. Yan Wen
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  2. Jingcan Hao
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  3. Xiao Xiao
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  4. Wenyu Wang
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  5. Xiong Guo
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  6. Weimin Lin
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  7. Tielin Yang
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  8. Xiaogang Liu
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  9. Hui Shen
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  10. Lijun Tan
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  11. Xiangding Chen
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  12. Qing Tian
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  13. Hong-Wen Deng
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  14. Feng Zhang
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Corresponding author

Correspondence to Feng Zhang.

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This study was approved by the Institutional Review Board (IRB) of Xi’an Jiaotong University. Written informed consent was obtained from all subjects.

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Wen, Y., Hao, J., Xiao, X. et al. PPARGC1B gene is associated with Kashin-Beck disease in Han Chinese. Funct Integr Genomics 16, 459–463 (2016). https://doi.org/10.1007/s10142-016-0496-x

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  • DOI: https://doi.org/10.1007/s10142-016-0496-x

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