title: The association of LRP5 gene polymorphisms with ankylosing spondylitis in a Chinese Han population.
abstract: OBJECTIVE
  To clarify the association between polymorphisms of low-density lipoprotein receptor-related protein 5 (LRP5) with ankylosing spondylitis (AS) in a Chinese Han population.
  
  
  METHODS
  Sixteen patients with AS were recruited for preliminary screening through gene sequencing. Then 14 single-nucleotide polymorphisms (SNP) of LRP5 were followed up in 296 patients and 170 controls.
  
  
  RESULTS
  Sequencing the LRP5 showed 24 SNP including 3 novel SNP [LRP5SNP1 (c.-1596T > C), LRP5SNP2 (c.3764-30G > A), and LRP5SNP3 (c.4488+74G > A)]. Validation of SNP showed that the LRP5SNP3 were associated with AS after multiple testing correction (allele P(c) = 0.0087, genotype P(c) = 0.0316, haplotype AGA, P(c) = 0.0051, OR = 2.54 and haplotype AGG, P(c) = 0.048, OR = 0.63, respectively). The SNP rs686921 was associated with male predominance in both patients with AS (p = 0.032, OR 1.54) and controls (p = 0.014, OR 1.94).
  
  
  CONCLUSIONS
  LRP5 may be involved in the pathogenesis of AS. Further study will be required to clarify the effect of LRP5 on the pathogenic mechanism of AS.
authors: Shandong University School of Medicine, Ji'nan, China.
authors: Jianmin
authors: J
authors: Liu
authors: Xiaoyan
authors: X
authors: Zhou
authors: Zhenxing
authors: Z
authors: Shan
authors: Jiguo
authors: J
authors: Yang
authors: Qingrui
authors: Q
authors: Yang
authors: Yazhou
authors: Y
authors: Cui
authors: Jinxiang
authors: J
authors: Han
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013167:Spondylitis, Ankylosing / Q000235:genetics* / Q000503:physiopathology*; D055815:Young Adult
chemical_list: C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5