Shandong University School of Medicine, Ji'nan, China.
J Rheumatol. 2011 Dec;38(12):2616-8. doi: 10.3899/jrheum.111117. Epub 2011 Sep 1.
To clarify the association between polymorphisms of low-density lipoprotein receptor-related protein 5 (LRP5) with ankylosing spondylitis (AS) in a Chinese Han population.
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.
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).
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.
在汉族人群中阐明载脂蛋白脂蛋白受体相关蛋白 5（LRP5）多态性与强直性脊柱炎（AS）之间的关联。
通过基因测序对 16 例 AS 患者进行初步筛选。然后在 296 例患者和 170 例对照中对 LRP5 的 14 个单核苷酸多态性（SNP）进行了随访。
对 LRP5 进行测序，共发现 24 个 SNP，包括 3 个新 SNP[LRP5SNP1（c.-1596T > C），LRP5SNP2（c.3764-30G > A）和 LRP5SNP3（c.4488+74G > A）]。经多重检验校正后，SNP 验证表明 LRP5SNP3 与 AS 相关（等位基因 P（c）=0.0087，基因型 P（c）=0.0316，单倍型 AGA，P（c）=0.0051，OR=2.54 和单倍型 AGG，P（c）=0.048，OR=0.63）。SNP rs686921 与 AS 患者（p=0.032，OR 1.54）和对照组（p=0.014，OR 1.94）男性优势相关。
LRP5 可能参与了 AS 的发病机制。需要进一步的研究来阐明 LRP5 对 AS 发病机制的影响。
