PMID- 23767933 OWN - NLM STAT- MEDLINE DCOM- 20131022 LR - 20221207 IS - 1471-2474 (Electronic) IS - 1471-2474 (Linking) VI - 14 DP - 2013 Jun 17 TI - Lack of associations between two previously identified susceptible single nucleotide polymorphisms of interleukin-23 receptor gene and ankylosing spondylitis: a replication study in a Chinese Han population. PG - 190 LID - 10.1186/1471-2474-14-190 [doi] AB - BACKGROUND: The human leukocyte antigen (HLA)-B27 gene is considered to be a major gene associated with predisposition to ankylosing spondylitis (AS); however, studies have demonstrated that non-HLA-B27 genes also contribute substantially to the susceptibility to AS. Two single nucleotide polymorphisms (SNPs), rs1004819 and rs10889677, of the interleukin-23 receptor (IL-23R) gene have been shown to be associated with AS susceptibility in European populations. However, ethnicity factors contribute to population splitting and genetic variation, and ethnic-specific genetic association studies are needed to validate these associations in patients from different ethnic backgrounds. This study therefore aimed to replicate the associations between these two SNPs and AS susceptibility in a Chinese Han population. METHODS: A total of 195 AS patients and 203 normal controls were recruited in this study. Two IL-23R gene SNPs, rs1004819 and rs10889677 were selected. Genotyping was performed in all subjects using the TaqMan probe method. Genotype and allele frequencies were compared between AS patients and normal controls by chi2 tests. RESULTS: There were no significant differences in either the genotype frequencies (TT 36.4%, TC 48.7% and CC 14.9% in AS patients; TT 35.0%, TC 50.0% and CC 15.0% in normal controls) or allele frequencies (T 60.8% and C 39.2% in AS patients; T 60.0% and C 40.0% in normal controls) of rs1004819 between AS patients and normal controls (P > 0.05). In addition, both the genotype frequencies (AA 51.3%, AC 43.1% and CC 5.6% in AS patients; AA 57.6%, AC 35.5% and CC 6.9% in normal controls) and allele frequencies (A 72.8% and C 27.2% in AS patients; A 75.4% and C 24.6% in normal controls) of rs10889677 were also comparable between AS patients and normal controls (P > 0.05). CONCLUSIONS: This study found no evidence for an association between either of the two previously identified AS-susceptibility IL-23R SNPs (rs1004819 and rs10889677) and onset of AS, indicating a possible difference in pathogenesis of AS between Chinese and European patients. FAU - Qian, Bang-ping AU - Qian BP AD - Department of Spine Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China. FAU - Jiang, Jun AU - Jiang J FAU - Ji, Ming-liang AU - Ji ML FAU - Wang, Bin AU - Wang B FAU - Yu, Yang AU - Yu Y FAU - Qiu, Yong AU - Qiu Y LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20130617 PL - England TA - BMC Musculoskelet Disord JT - BMC musculoskeletal disorders JID - 100968565 RN - 0 (IL23R protein, human) RN - 0 (Receptors, Interleukin) SB - IM MH - Adult MH - Asian People/*genetics MH - Ethnicity/*genetics MH - Female MH - *Genetic Predisposition to Disease MH - Humans MH - Male MH - Middle Aged MH - *Polymorphism, Single Nucleotide MH - Receptors, Interleukin/*genetics MH - Spondylitis, Ankylosing/ethnology/*genetics MH - Young Adult PMC - PMC3706219 EDAT- 2013/06/19 06:00 MHDA- 2013/10/23 06:00 PMCR- 2013/06/17 CRDT- 2013/06/18 06:00 PHST- 2012/11/07 00:00 [received] PHST- 2013/06/10 00:00 [accepted] PHST- 2013/06/18 06:00 [entrez] PHST- 2013/06/19 06:00 [pubmed] PHST- 2013/10/23 06:00 [medline] PHST- 2013/06/17 00:00 [pmc-release] AID - 1471-2474-14-190 [pii] AID - 10.1186/1471-2474-14-190 [doi] PST - epublish SO - BMC Musculoskelet Disord. 2013 Jun 17;14:190. doi: 10.1186/1471-2474-14-190.