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Association of interleukin-1 family cytokines single nucleotide polymorphisms with susceptibility to systemic sclerosis: an independent case–control study and a meta-analysis

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Abstract

The aim of our study was to investigate the association of five single nucleotide polymorphisms in interleukin-1 (IL-1) gene with susceptibility to systemic sclerosis (SSc) in a Chinese population. A total of 58 SSc patients and 113 healthy controls were enrolled. TaqMan allele discrimination assay was performed to detect the genotyping of IL-1A -889C/T (rs1800587), IL-1B -511C/T (rs16944), IL-18 -607C/A (rs1946518), IL-18 -137G/C (rs187238) and IL-33 rs7044343. The association between these SNPs and SSc risk was analyzed. Furthermore, a meta-analysis of relevant studies on the association of IL-1A -889C/T (rs1800587) and IL-1B -511C/T (rs16944) with the susceptibility to SSc was performed. Through the genotyping, significant associations for SSc were found for: IL-1A -889C/T genotype frequencies (P = 0.000), dominant model (P = 0.000), recessive model (P = 0.001) and allele T frequency (P = 0.000). Among SSc patients, dyspnea was significantly associated with IL-18 -607C/A genotype frequency and IL-33 rs7044343 allele frequency (P = 0.037, P = 0.042, respectively). In addition, elevated erythrocyte sedimentation rate was significantly associated with IL-18 -137G/C (rs187238) genotype and allele frequency (P = 0.019, P = 0.006, respectively). While meta-analysis showed there was no significant association between IL-1A -889C/T polymorphism and SSc, for IL-1B -511C/T (rs16944), significant associations were found in the comparison of allele C versus T (OR 1.267, 95 % CI 1.016–1.580) by combined different outcomes. Results showed that IL-1A -889C/T (rs1800587) was associated with SSc susceptibility in the Chinese population. However, this association was not supported by a meta-analysis of all relevant studies. Further investigations are required to verify our findings.

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Acknowledgments

This work was partly supported by grants from the National Natural Science Foundation of China (Code: 81271759) and the Anhui provincial laboratory of population health & major disease screening and diagnosis, the Natural Science Foundation of Anhui Province in 2013 (Code: 1308085MH169) and the Key Project of the Education Department of Anhui Province Natural Science Research (Code: KJ2012A165).

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    Authors and Affiliations

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

      Xiao-Lei Huang, Guo-Cui Wu, Yu-Jie Wang, Xiao-Ke Yang, Yu Duan, Jun-Wei Yan, Dong-Qing Ye & Jing Wang

    2. Department of Rheumatology and Immunology, Anhui Provincial Hospital, Anhui Medical University, Hefei, China

      Guo-Jun Yang, Jin-Hui Tao & Xiang-Pei Li

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    1. Xiao-Lei Huang
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    Xiao-Lei Huang and Guo-Cui Wu contributed equally to this work and should be considered co-first authors.

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    Huang, XL., Wu, GC., Wang, YJ. et al. Association of interleukin-1 family cytokines single nucleotide polymorphisms with susceptibility to systemic sclerosis: an independent case–control study and a meta-analysis. Immunol Res 64, 1041–1052 (2016). https://doi.org/10.1007/s12026-016-8797-7

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