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The association between MEFV gene polymorphisms and Henoch–Schönlein purpura, and additional SNP–SNP interactions in Chinese Han children

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Abstract

The aim of this study was to investigate the association between single-nucleotide polymorphisms (SNP) within MEFV gene and Henoch–Schönlein purpura (HSP) risk, and the impact of SNP–SNP interaction on HSP risk in Chinese children. A total of 662 subjects with a mean age of 7.9 ± 2.4 years old were selected, including 320 HSP patients and 342 normal controls. Logistic regression was performed to investigate association between SNP and HSP risk, and generalized multifactor dimensionality reduction (GMDR) was used to analyze the SNP–SNP interaction. Logistic analysis showed a significant association between genotypes of variants in rs3743930 and increased HSP risk. The carriers of homozygous mutant of rs3743930 polymorphism revealed increased HSP risk than those with wild-type homozygotes; OR (95% CI) was 1.55 (1.23–1.85). GMDR analysis suggested a significant two-locus model (p = 0.0107) involving rs3743930 and rs28940580, indicating a potential SNP–SNP interaction between rs3743930 and rs28940580. Overall, the two-locus models had a cross-validation consistency of 10 of 10 and had the testing accuracy of 60.72%. Subjects with rs3743930-GC or CC and rs28940580-GA or AA genotype have the highest HSP risk, compared to subjects with rs3743930-GG and rs28940580-GG genotype; OR (95% CI) was 2.13 (1.52–2.89). The variants in rs3743930 and interaction between rs3743930 and rs28940580 were associated with increased HSP risk in Chinese children.

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Acknowledgements

The writing of this paper was supported by Zhongnan Hospital of Wuhan University. We thank all the partners and staffs who helped us in the process of this study.

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Correspondence to Shunjun Xiong.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Xiong, S., Xiong, Y., Huang, Q. et al. The association between MEFV gene polymorphisms and Henoch–Schönlein purpura, and additional SNP–SNP interactions in Chinese Han children. Rheumatol Int 37, 455–460 (2017). https://doi.org/10.1007/s00296-016-3596-y

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  • DOI: https://doi.org/10.1007/s00296-016-3596-y

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