Association of interleukin-1 family cytokines single nucleotide polymorphisms with susceptibility to systemic sclerosis: an independent case-control study and a meta-analysis.
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.
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China.
Xiao-Lei
XL
Huang
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China.
Guo-Cui
GC
Wu
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China.
Yu-Jie
YJ
Wang
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China.
Xiao-Ke
XK
Yang
Department of Rheumatology and Immunology, Anhui Provincial Hospital, Anhui Medical University, Hefei, China.
Guo-Jun
GJ
Yang
Department of Rheumatology and Immunology, Anhui Provincial Hospital, Anhui Medical University, Hefei, China.
Jin-Hui
JH
Tao
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China.
Yu
Y
Duan
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China.
Jun-Wei
JW
Yan
Department of Rheumatology and Immunology, Anhui Provincial Hospital, Anhui Medical University, Hefei, China.
Xiang-Pei
XP
Li
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China. ydq@ahmu.edu.cn.
Dong-Qing
DQ
Ye
Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Meishan Road 81, Hefei, 230032, Anhui, China. jwang2006@126.com.
Jing
J
Wang
D000328:Adult; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020382:Interleukin-18 / Q000235:genetics*; D053582:Interleukin-1alpha / Q000235:genetics*; D000067596:Interleukin-33 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000276:immunology
C000589760:IL18 protein, human; C506536:IL33 protein, human; D020382:Interleukin-18; D053582:Interleukin-1alpha; D000067596:Interleukin-33
Chinese population; Interleukin-1; Polymorphism; Systemic sclerosis