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Genome-wide association study of degenerative bony changes of the temporomandibular joint

机译：颞下颌关节退行性骨变化的全基因组关联研究

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Objectives: To identify susceptibility genes underlying degenerative bony changes of the temporomandibular joint (TMJ). Materials and Methods: Bony changes of the TMJ condylar head were diagnosed by examination of panoramic radiographs and/or magnetic resonance images and/or computed tomography images. We conducted a genome-wide association study (GWAS) of 146 cases with TMJ degeneration and 374 controls from East Asian populations using an Illumina HumanOmniExpress BeadChip. After rigorous quality-control filtering, approximately 550 000 single nucleotide polymorphisms (SNPs) were used for tests of associations with disease status. Results: Forty-one SNPs at 22 independent loci showed association signals at P 1 × 10-4. The SNP rs878962, which maps on an intron of TSPAN9 on chromosome 12, showed the strongest association (combined OR = 1.89, 95% confidence interval = 1.43-2.50, P = 8.1 × 10-6). According to in silico predictions of the 41 SNPs, two intronic SNPs of APOL3 (rs80575) and MRC2 (rs2460300) may fall within regulatory elements and affect DNA-protein interactions. We could not replicate SNPs located on genes that have been reported to be associated with temporomandibular disorder or temporomandibular osteoarthritis in previous studies at P 1 × 10-4. Conclusions: Our GWAS identified 22 independent loci showing suggestive association signals with degenerative bony changes of the TMJ. These loci provide good candidates for future follow-up studies.
机译：目的：确定颞下颌关节（TMJ）退化性骨改变的易感基因。材料和方法：通过检查全景X射线照片和/或磁共振图像和/或计算机断层扫描图像来诊断TMJ dy骨头的骨变。我们使用Illumina HumanOmniExpress BeadChip对来自东亚人群的146例TMJ变性病例和374例对照进行了全基因组关联研究（GWAS）。经过严格的质量控制过滤后，大约550 000个单核苷酸多态性（SNP）用于测试与疾病状态的关联。结果：22个独立位点的41个SNP在P <1×10-4处显示关联信号。 SNP rs878962（位于12号染色体上的TSPAN9内含子上）显示出最强的关联性（组合OR = 1.89，95％置信区间= 1.43-2.50，P = 8.1×10-6）。根据对41个SNP的计算机预测，APOL3（rs80575）和MRC2（rs2460300）的两个内含子SNP可能落入调节元件内，并影响DNA-蛋白质相互作用。在先前的研究中，我们无法复制位于与颞下颌疾病或颞下颌骨关节炎相关的基因上的SNP，P <1×10-4。结论：我们的GWAS确定了22个独立位点，这些位点显示出提示性的关联信号以及TMJ的变性骨改变。这些基因座为将来的后续研究提供了良好的候选者。

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