Review Article

Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?

Table 1

Genes/gene regions definitely associated with AS in Chinese population.

Chromosome location Putative genes/candidate genesSNPReference alleleReplicated or notP value

6p21HLA-Brs13202464GYes<5.0 × 10−324
5q15ERAP1rs27434AYes6.68 × 10−4
5q15ERAP1rs30187TYes6.71 × 10−4
1p31IL-23Rrs11209026GYes2.3 × 10−17
5q33IL12Brs3212227CYes/
12p13TNFRSF1Ars4149577AYes8.2 × 10−4
1q21FCRL4rs2777963TNo/
1q23FCGR2Brs10917661CNo/
12q24.31ORAI1rs7135617TNo0.008
12q24.31ORAI1rs712853CNo0.002
5q14.3HAPLN1-EDIL3rs4552569CNo8.77 × 10−10
12q12ANO6rs17095830GNo1.63 × 10−8
2p15Unknownrs10865331AYes1.98 × 10−8
6q21Unknownrs13210693ANo9.31 × 10−7

SNP: single nucleotide polymorphisms; HLA: human leukocyte antigen; ERAP1: endoplasmic reticulum aminopeptidase 1; IL-23R: interleukin-23 receptor; IL12B: interleukin-12B; TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A; FCRL4: Fc receptor-like molecule 4; FCGR2B: Fc gamma receptor IIB; ORAI1: ORAI calcium release-activated calcium modulator 1; HAPLN1: hyaluronan and proteoglycan link protein 1; EDIL3: EGF-like repeats and discoidin I-like domains 3; ANO6: anoctamin 6.