Correlation between some Th1 and Th2 cytokine receptor gene polymorphisms and systemic lupus erythematosus in Chinese patients.
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-gamma receptor (IFN-gammaR) [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-gammaR2 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-gammaR2 Arg64/Arg64 and IFN-gammaR1 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.
Xu
Yao
Y
Institute of Dermatology, Chinese Academy of Medical Science, Nanjing, China.
Chen
Zhi-Qiang
ZQ
Li
Yu-Mei
YM
Gong
Juan-Qin
JQ
Li
An-Sheng
AS
Chen
Min
M
Liu
Jun
J
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D017471:Receptors, Interferon / Q000235:genetics*; D053701:Receptors, Interleukin-10 / Q000235:genetics*; D019948:Receptors, Interleukin-4 / Q000235:genetics*; D000096743:Interferon gamma Receptor
D017471:Receptors, Interferon; D053701:Receptors, Interleukin-10; D019948:Receptors, Interleukin-4; D000096743:Interferon gamma Receptor