[Genomic analysis of ossification of the posterior longitudinal ligament].

Clinical calcium Pub Date : 2016-04-01
Takashi Tsuji
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Abstract

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.

后纵韧带骨化的基因组分析。
OPLL被认为是一种受遗传和环境因素影响的多因素疾病。为了确定OPLL的遗传因素,脊髓韧带骨化调查委员会遗传研究组对1,660名OPLL患者进行了全基因组关联研究(GWAS)。研究组鉴定出6个OPLL易感位点: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))和6p21.1(rs927485:P= 9.40 × 10(-9))。对易感位点的进一步功能研究将有助于澄清OPLL的病因。
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