Methods: We screened COMT gene, by sequence analysis, in a large group of TMD patients with chronic myofascial pain condition (n=50; 44 females and 6 males) and controls (n=120; 80 females and 40 males) from the Campania area (Italy). Comparison of allele frequencies of COMT polymorphisms detected in patients and in controls was performed by χ² test. Haploblocks of polymorphisms in COMT gene were investigated by Haploview software. The role of COMT gene variants both in RNA or in protein structure modification was investigated, respectively, by m-fold and NPS@ (Network Protein Sequence @nalysis).
Results: We detected 18 new ( 6 in P2, 1 in exon 1, 3 in P1, 1 in exon 3, 1 in intron 3, 3 in intron 4 and 3 in 3'UTR) and 22 previously described variants in COMT gene. Three variants were more frequent in patients than in controls (rs4646310 AA or GA vs GG, p=0.04; rs165656 GC or CC vs GG, p=0.02; and rs165722 TC or TT vs CC, p=0.01); in particular TMD patients bearing rs165656 C allele (genotypes CC or GC) or rs165722 T allele (genotypes CT or TT) were further at risk for headache (OR=5,0; C.I.: 1,3-19,6) .
Conclusion: Our data suggest that genetic variants in the COMT gene could exert a role in TMD susceptibility.
Grants from: Ceinge-Regione Campania (convenzione 2007) and MIUR P.S. 35-126/IND.