Abstract | OBJECTIVES: DESIGN: A case-control study. SETTING: A tuberculosis unit in a hospital of the university in China. PARTICIPANTS: Participants included 412 patients with sarcoidosis and 418 healthy controls. METHODS: The selected SNPs were genotyped using the MALDI-TOF in the MassARRAY system. RESULTS: Statistically significant differences were found in the allelic or genotypic frequencies of the rs2789679, rs1049550 and rs2819941 in the ANXA11 gene between patients with sarcoidosis and controls. The rs2789679 A allele (p=0.00004, OR=1.42, 95% CI 1.17 to 1.73) and rs2819941 T allele (p=0.0006, OR=1.41, 95% CI 1.16 to 1.71) were significantly more frequent in patients with sarcoidosis compared with controls. The frequency of the rs1049550 T allele (p=0.000002, OR=0.61, 95% CI 0.49 to 0.74) in patients with sarcoidosis was significantly lower than that in controls. The multi-SNP model reveals that rs1049550 is the only independent SNP association effect after accounting for the other two marginally associated SNPs. In block 2 (rs1049550-rs2573351), the T-C haplotype occurred significantly less frequently (p=0.001), whereas the C-C haplotypes occurred more frequently (p=0.0001) in patients with sarcoidosis than controls. Furthermore, genotype frequency distribution revealed that, in rs1049550, the CC genotype was significantly more in patients with chest X-ray (CXR) stage I sarcoidosis than in patients with CXR stage II-IV sarcoidosis (p=0.012). CONCLUSIONS: These findings point to a role for the polymorphisms of ANXA11 in sarcoidosis in a Chinese Han population, and may be informative for future genetic studies on sarcoidosis.
|
Authors | Xianjun Feng, Shuzhi Zang, Yanrong Yang, Shasha Zhao, Yunxia Li, Xinyuan Gao, Ligong Zhang |
Journal | BMJ open
(BMJ Open)
Vol. 4
Issue 7
Pg. e004466
(Jul 23 2014)
ISSN: 2044-6055 [Print] England |
PMID | 25056970
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. |
Chemical References |
|
Topics |
- Alleles
- Annexins
(genetics, metabolism)
- China
(epidemiology)
- DNA
(genetics)
- Ethnicity
- Female
- Genetic Predisposition to Disease
- Genotype
- Humans
- Male
- Middle Aged
- Polymorphism, Genetic
- Prevalence
- Retrospective Studies
- Sarcoidosis
(ethnology, genetics, metabolism)
|