Association of interleukin-10 promoter polymorphisms with systemic lupus erythematosus

W. P. Chong, W. K. Ip, W. H. S. Wong, C. S. Lau, T. M. Chan, Yu Lung Lau*

*Corresponding author for this work

Research output: Contribution to journalJournal articlepeer-review

82 Citations (Scopus)


Several lines of evidence suggest interleukin-10 gene (IL-10) is a candidate gene in susceptibility to systemic lupus erythematosus (SLE). We investigated the association of IL-10 promoter single-nucleotide polymorphisms (SNPs) (-3575T/A, -2849G/A, -2763C/A, -1082A/G, -819T/C and -592A/C) and microsatellites (IL10.R, 1L10.G) with SLE in 554 Hong Kong Chinese patients and 708 ethnically matched controls. Six haplotypes (hts) were identified from the SNPs. The genotype distribution of the ht1 (T-C-A-T-A), which is associated with low IL-10 production, was different in patients and controls (P = 0.009). The homozygous genotype of non-ht1 was significantly increased in patients (P = 0.009, odds ratio (OR) = 1.80, 95% CI: 1.15-2.82). The frequency of IL10.G4 of IL10.G was also significantly increased in patients (P = 0.017, OR = 2.53, 95% CI: 1.18-5.40). We found that the homozygous non-ht1 combined with short allele (CA repeat number ≤21) of 1L10.G has a dose-dependent effect on SLE susceptibility: non-ht1/non-ht1 with homozygous short allele showed a higher OR (OR = 4.11, 95% CI: 1.27-13.2, P = 0.018) of association with SLE than the genotype of non-ht1/non-ht1 with heterozygous short/long allele (OR = 2.98, 95% CI: 1.26-7.07, P = 0.013) and homozygous long allele (OR = 1.05, 95% CI: 0.62-1.78, P = 0.848). The frequency of non-ht1 was significantly increased in patients with serositis (P < 0.0001, OR = 2.42, 95% CI: 1.55-3.80). In conclusion, the high expression promoter genotype is associated with SLE in Chinese.

Original languageEnglish
Pages (from-to)484-492
Number of pages9
JournalGenes and Immunity
Issue number6
Early online date5 Aug 2004
Publication statusPublished - 1 Sept 2004

Scopus Subject Areas

  • Immunology
  • Genetics
  • Genetics(clinical)

User-Defined Keywords

  • Haplotype
  • Interleukin 10
  • Polymorphism
  • Systemic lupus erythematosus


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