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Genome‐wide association study of degenerative bony changes of the temporomandibular joint
Author(s) -
Yamaguchi T,
Nakaoka H,
Yamamoto K,
Fujikawa T,
Kim YI,
Yano K,
Haga S,
Katayama K,
Shibusawa T,
Park SB,
Maki K,
Kimura R,
Inoue I
Publication year - 2014
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/odi.12141
Subject(s) - temporomandibular joint , snp , genome wide association study , single nucleotide polymorphism , medicine , genetics , biology , genotype , pathology , gene
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 E ast A sian populations using an I llumina H uman O mni E xpress B ead C hip. After rigorous quality‐control filtering, approximately 550 000 single nucleotide polymorphisms ( SNP s) were used for tests of associations with disease status. Results Forty‐one SNP s at 22 independent loci showed association signals at P < 1 × 10 −4 . The SNP rs878962, which maps on an intron of TSPAN 9 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 SNP s, two intronic SNP s of APOL 3 (rs80575) and MRC 2 (rs2460300) may fall within regulatory elements and affect DNA –protein interactions. We could not replicate SNP s 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.