Missense polymorphisms within IL-10R1 exons are not associated with systemic lupus erythematosus in Chinese.
OBJECTIVE
Studies have suggested that interleukin-10 receptor1 (IL-10R1) is involved in genetic susceptibility to systemic lupus erythematosus (SLE) in animal models and Caucasians. Therefore, the current study was designed to determine whether the IL-10R1 gene plays a role in the pathogenesis of human SLE in the Chinese Han population.


METHODS
The seven exons of the IL-10R1 gene were amplified and sequenced using a BigDye Terminator v1.1 Cycle Sequencing kit and an ABI 3100 DNA Analyzer. A missense single nucleotide polymorphism (SNP) locus with a minor allele frequency of at least 0.1 was chosen to evaluate the correlation with the incidence of SLE.


RESULTS
Seven SNPs were found to reside in the exons of the IL-10R1 gene. Among the SNPs, A744G was evaluated for a correlation with the incidence of SLE because A744G was the only missense SNP with a minor allele frequency of at least 0.1. There was no significant difference in the distribution of the A and G alleles between the SLE patient group and the healthy control group (P = 0.693). Furthermore, the genotype frequencies of A744A, A744G and G744G did not differ significantly between the two groups (P = 0.906).


CONCLUSIONS
In the Chinese Han population, missense SNPs within the exons of the IL-10R1 gene do not contribute to the development of SLE.
Department of Rheumatology and Immunology, Shengjing Hospital, China Medical University, China.
H
H
Cui
H
H
Xue
L
L
Yang
D
D
Liu
L
L
Qi
N
N
Zhang
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005091:Exons; D005260:Female; D005784:Gene Amplification; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D053709:Interleukin-10 Receptor alpha Subunit / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D055815:Young Adult
D053709:Interleukin-10 Receptor alpha Subunit