University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki, 889-1692, Japan.
Bone Joint Res. 2015 Apr;4(4):50-5. doi: 10.1302/2046-3758.44.2000349.
Excessive acetabular coverage is the most common cause of pincer-type femoroacetabular impingement. To date, an association between acetabular over-coverage and genetic variations has not been studied. In this study we investigated the association between single nucleotide polymorphisms (SNPs) of paralogous Homeobox (HOX)9 genes and acetabular coverage in Japanese individuals to identify a possible genetic variation associated with acetabular over-coverage.
We investigated 19 total SNPs in the four HOX9 paralogs, then focused in detail on seven of those located in the 3' untranslated region of HOXB9 (rs8844, rs3826541, rs3826540, rs7405887, rs2303485, rs2303486, rs79931349) using a case-control association study. The seven HOXB9 SNPs were genotyped in 316 subjects who had all undergone radiological examination. The association study was performed by both single-locus and haplotype-based analyses.
The genotype and allele frequencies of the five HOXB9 SNPs showed significant association with acetabular over-coverage compared with controls (rs7405887 OR = 3.16, p = 5.29E-6, 95% CI 1.91 to 5.25). A significant difference was also detected when haplotypes were evaluated (OR = 2.59, p = 2.61E-5, 95% CI 1.65 to 4.08). The two HOXB9 SNPs (rs2303485, rs2303486) were associated with decreased acetabular coverage (rs2303485 OR = 0.524, p = 0.0091, 95% CI 0.322 to 0.855; rs2303486 OR = 0.519, p = 0.011, 95% CI 0.312 to 0.865).
The five HOXB9 SNPs (rs8844, rs3826541, rs3826540, rs7405887, rs79931349) were associated with acetabular over-coverage. On the other hand, the two SNPs (rs2303485 and rs2303486) were associated with the lower acetabular coverage. The association of rs2303486 would be consistent with the previous study. Therefore, the HOXB9 SNPs might be involved in the morphogenesis of acetabular coverage, and could be an independent risk factor for developing pincer-type femoroacetabular impingement. Cite this article: Bone Joint Res 2015;4:50-5.
髋臼过度覆盖是造成钳夹型股骨髋臼撞击症的最常见原因。迄今为止，尚未研究髋臼过度覆盖与遗传变异之间的关系。本研究旨在探讨同源盒（HOX）9 基因的同系物单核苷酸多态性（SNP）与日本人群髋臼覆盖之间的关系，以确定与髋臼过度覆盖相关的可能遗传变异。
我们研究了四个 HOX9 同系物的 19 个总 SNP，然后详细研究了位于 HOXB9 3'非翻译区的 7 个 SNP（rs8844、rs3826541、rs3826540、rs7405887、rs2303485、rs2303486、rs79931349），采用病例对照关联研究。对 316 名均接受影像学检查的受试者进行了 7 个 HOXB9SNP 的基因分型。通过单基因座和单倍型分析进行关联研究。
与对照组相比，五个 HOXB9SNP 的基因型和等位基因频率与髋臼过度覆盖有显著关联（rs7405887OR=3.16，p=5.29E-6，95%CI1.91 至 5.25）。当评估单倍型时也发现了显著差异（OR=2.59，p=2.61E-5，95%CI1.65 至 4.08）。两个 HOXB9SNP（rs2303485、rs2303486）与髋臼覆盖减少相关（rs2303485OR=0.524，p=0.0091，95%CI0.322 至 0.855；rs2303486OR=0.519，p=0.011，95%CI0.312 至 0.865）。
五个 HOXB9SNP（rs8844、rs3826541、rs3826540、rs7405887、rs79931349）与髋臼过度覆盖有关。另一方面，两个 SNP（rs2303485 和 rs2303486）与髋臼覆盖减少有关。rs2303486 的相关性与之前的研究一致。因此，HOXB9SNP 可能参与髋臼覆盖的形态发生，并且可能是发生钳夹型股骨髋臼撞击症的独立危险因素。
doi:10.1302/0301-620X.4B4.150045
