Association study of COL9A2 with lumbar disc disease in the Japanese population

Shoji Seki, Yoshiharu Kawaguchi, Masaki Mori, Futoshi Mio, Kazuhiro Chiba, Yasuo Mikami, Tatsuhiko Tsunoda, Toshikazu Kubo, Yoshiaki Toyama, Tomoatsu Kimura, Shiro Ikegawa

研究成果: Article査読

59 被引用数 (Scopus)

抄録

Lumbar disc disease (LDD) is a common musculo-skeletal disease with strong genetic determinants. In a Finnish population, a single nucleotide polymorphism (SNP) causing an amino-acid substitution (Trp2 allele) in COL9A2, which encodes the α2 (IX) chain of type IX collagen, has been reported to associate with LDD. However, replication studies in different populations have produced controversial results. To further investigate the association of COL9A2 with LDD in Japanese, we examined SNPs in COL9A2, including Trp2, in 470 LDD patients (mean age 35) along with 658 controls (mean age 48). We identified a total of 43 sequence variations in COL9A2. Nine SNPs, including Trp2, were selected and genotyped. After Bonferroni's correction, none of these SNPs showed association. Unlike observations in the Finnish population, Trp2 was common in Japanese, and no association with LDD was apparent. However, we did see association of a COL9A2 specific haplotype with LDD (P=0.025; permutation test); this association is more significant in patients with severe lumbar disc degeneration (P=0.011). Thus, the association of Trp2 with LDD was not replicated, but COL9A2 susceptibility allele(s) other than Trp2 may be present in Japanese LDD.

本文言語English
ページ(範囲)1063-1067
ページ数5
ジャーナルJournal of Human Genetics
51
12
DOI
出版ステータスPublished - 2006 12月

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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