Single nucleotide polymorphisms of IL12B are associated with Takayasu arteritis in Chinese Han population.
Takayasu arteritis (TA) is a rare autoimmune disease of unknown etiology. Genome-wide association studies (GWAS) have demonstrated association between genetic variants of IL12B and IL6 and TA. Since TA has been reported with ethnic heterogeneity, we sought to investigate whether the single-nucleotide-polymorphisms (SNPs) reported in these studies are associated with TA in the Chinese Han population. A multi-center study involving 412 patients with TA and 597 healthy controls was conducted. Sequenom MassArray iPLEX platform was used to determine the frequencies of SNPs in the IL12B and IL6 region. We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all Pc< 10- 3). A meta-analysis consist of four populations showed rs6871626 was a susceptible locus of TA. Its OR was 1.51, and 95% CI was 1.31-1.74. The four SNPs were in strong linkage disequilibrium and two haplotypes were significantly different between patients and controls. Conditional analysis shows that these SNPs were not independent factors contributing to TA. Nevertheless, neither genotype nor allele frequencies of rs2069837 in IL6 showed significant between-group differences. Thus SNP of IL12B may be considered a high-risk factor for TA in Chinese Han population and provide further clues for research into the pathogenesis of TA.
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Xiaoting
X
Wen
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.|Department of Clinical Laboratory, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China.
Si
S
Chen
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Ping
P
Li
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Jing
J
Li
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Ziyan
Z
Wu
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Yuan
Y
Li
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Liubing
L
Li
Department of Clinical Laboratory, Beijing Anzhen Hospital, Capital Medical University, Beijing, 100029, China.
Hui
H
Yuan
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Xinping
X
Tian
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.
Fengchun
F
Zhang
Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China. yongzhelipumch@126.com.
Yongzhe
Y
Li
D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D053762:Interleukin-12 Subunit p40 / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013625:Takayasu Arteritis / Q000235:genetics*; D055815:Young Adult
D053762:Interleukin-12 Subunit p40
IL12B; IL6; Single-nucleotide polymorphisms; Takayasu arteritis