Correlation between some Th1 and Th2 cytokine receptor gene polymorphisms and systemic lupus erythematosus in Chinese patients

Yao Xu, Zhi Qiang Chen, Yu Mei Li, Juan Qin Gong, An Sheng Li, Min Chen, Jun Liu

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Background: Genetic factors seem to play a significant role in the susceptibility to systemic lupus erythematosus (SLE). Some researchers have described amino acid polymorphisms within the interleukin-4 receptor (IL-4R) [isoleucine50valine (Ile50Val), arginine576glutamine (Arg576Gln), etc.], the IL-10R (G241A and G520A), and the interferon-γ receptor (IFN-γR) [valine14methionine (Val14Met) and glutamine64arginine (Gln64Arg)]: Methods: The Ile50Val genotypes were examined by the reverse transcription-polymerase chain reaction-single-strand conformation polymorphism (RT-PCR-SSCP) method and DNA sequencing. The RT-PCR-restriction fragment length polymorphism (RT-PCR-RFLP) method was used to detect the Arg576Gln, G241A, G520A, Val14Met, and Gln64Arg genotypes. Results: There were significant differences in the genotype frequencies of Ile50/Ile50, G520/G520, and G520/A520 between the SLE group and healthy control group. There was a positive correlation between the IL-4R Ile50/Ile50 genotype and the susceptibility to SLE (P=0.022). This was also found for the IL-10R G520/G520 (P=0.004) and G520/A520 (P=0.055) genotypes. The risk of SLE susceptibility was increased in individuals with the genotype combinations Ile50/Ile50 and Gln576/Arg576 (P=0.056) and G241/G241 and G520/G520 (P=0.004). The IFN-γR2 Arg64/Arg64 genotype decreased the risk of SLE (P=0.047). A decreased risk of development of SLE was detected in individuals with the genotype combination IFN-γR2 Arg64/Arg64 and IFN-γR1 Val14/Val14 (P=0.004). Conclusions: The IL-4R Ile50/Ile50 and IL-10R2 G520/G520 and G520/A520 genotypes were shown to determine the susceptibility to SLE in a Chinese population, as were the combinations Ile50/Ile50 and Gln576/Arg576, and G241/G241 and G520/G520.

Original languageEnglish (US)
Pages (from-to)1129-1135
Number of pages7
JournalInternational Journal of Dermatology
Issue number11
StatePublished - Nov 2007
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology


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