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).
Conclusion: 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.