Genomic analysis of ossification of the posterior longitudinal ligament

OPLL is considered as a multi-factorial disease influenced by genetic and environmental factors. To identify genetic factors for OPLL, Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligament performed a genome-wide association study(GWAS)using 1,660 OPLL patients. The study group identified six susceptibility loci for OPLL:20p12.3(rs2423294:P= 1.10 × 10(-13)), 8q23.1(rs374810:P= 1.88 × 10(-13)),12p11.22(rs1979679:P= 4.34 × 10(-12)), 12p12.2(rs11045000:P= 2.95 × 10(-11)),8q23.3(rs13279799:P= 1.28 × 10(-10))and 6p21.1(rs927485:P= 9.40 × 10(-9)).A further functional study for the susceptibility loci should aid in clarification of etiology of OPLL.