title: Annexin A11 (ANXA11) gene polymorphisms are associated with sarcoidosis in a Han Chinese population: a case-control study.
abstract: OBJECTIVE
  To further identify the single-nucleotide polymorphisms (SNPs) that contribute to the genetic susceptibility to sarcoidosis, we examined the potential association between sarcoidosis and 15 SNPs of the ANXA11 gene.
  
  
  METHODS
  A case-control study.
  
  
  METHODS
  A tuberculosis unit in a hospital of the university in China.
  
  
  METHODS
  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: Department of respiratory medicine, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, PR China.
authors: Xianjun
authors: X
authors: Feng
authors: Department of respiratory medicine, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, PR China.
authors: Shuzhi
authors: S
authors: Zang
authors: Department of respiratory medicine, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, PR China.
authors: Yanrong
authors: Y
authors: Yang
authors: Department of respiratory medicine, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, PR China.
authors: Shasha
authors: S
authors: Zhao
authors: Department of respiratory medicine, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, PR China.
authors: Yunxia
authors: Y
authors: Li
authors: Department of respiratory medicine, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, PR China.
authors: Xinyuan
authors: X
authors: Gao
authors: Department of respiratory medicine, First Affiliated Hospital of Xinxiang Medical University, Xinxiang, Henan, PR China.
authors: Ligong
authors: L
authors: Zhang
mesh_terms: D000483:Alleles; D017302:Annexins / Q000235:genetics* / Q000378:metabolism; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D005006:Ethnicity; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D015995:Prevalence; D012189:Retrospective Studies; D012507:Sarcoidosis / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism
chemical_list: D017302:Annexins; D004247:DNA
keywords: GENETICS; IMMUNOLOGY; INFECTIOUS DISEASES