title: Association of the MSX2 gene polymorphisms with ankylosing spondylitis in Japanese.
abstract: Several genes have been implicated in the etiology of ankylosing spondylitis (AS); however, the significance of these genes except HLA-B27 remains to be elucidated. In this study, we examined the association of AS with novel candidate genes and previously reported genes other than HLA-B27. We examined a total of 45 single nucleotide polymorphisms (SNPs) in 15 genes by a sequential screening. We first genotyped 170 Japanese AS patients and 896 controls for the SNPs (first screen). Then, we genotyped eight SNPs with P < 0.05 in the first screen for 108 additional Japanese patients (second screen). We checked the replication of the association of the most significant SNP by genotyping 219 Taiwanese AS patients and 185 controls. When the first and second screens were combined, four SNPs showed nominal significance of P < 0.05. An intronic SNP (IVS1 + 996G > A) in MSX2, a novel candidate gene, showed the most significant association (P = 0.0030). The association was not replicated in our Taiwanese population; however, there was the same trend with the Japanese population in the allelic frequency distribution of the SNP. In the genes previously reported to have association with AS, only one synonymous SNP, c.963T > G in ANKH, showed a marginal association in the Japanese population (P = 0.045).
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Furuichi
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.|Department of Orthopaedics Surgery, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Maeda
authors.affiliation: Division of Allergy-Immunology-Rheumatology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Chung-Tei
authors.initials: CT
authors.lastname: Chou
authors.affiliation: Genome Research Center, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Yu-Fen
authors.initials: YF
authors.lastname: Liu
authors.affiliation: Genome Research Center, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Ting-Chun
authors.initials: TC
authors.lastname: Liu
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan.
authors.forename: Yoshinari
authors.initials: Y
authors.lastname: Miyamoto
authors.affiliation: Laboratory for Statistical Analysis, SNP Research Center, RIKEN, Tokyo, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Takahashi
authors.affiliation: Department of Orthopaedic Surgery, Shiga University of Medical Science, Otsu, Japan.
authors.forename: Kanji
authors.initials: K
authors.lastname: Mori
authors.affiliation: Institute of Rheumatology, Tokyo Woman's Medical University, Tokyo, Japan.
authors.forename: Katsunori
authors.initials: K
authors.lastname: Ikari
authors.affiliation: Laboratory for Statistical Analysis, SNP Research Center, RIKEN, Tokyo, Japan.|Institute of Rheumatology, Tokyo Woman's Medical University, Tokyo, Japan.
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
authors.affiliation: Department of Orthopaedics Surgery, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Hisashi
authors.initials: H
authors.lastname: Kurosawa
authors.affiliation: Department of Orthopaedics Surgery, Juntendo University School of Medicine, Tokyo, Japan.
authors.forename: Hisashi
authors.initials: H
authors.lastname: Inoue
authors.affiliation: Genome Research Center, National Yang-Ming University, Taipei, Taiwan.|Division of Molecular and Genomic Medicine, National Health Research Institutes, Zhunan, Miaoli, Taiwan.
authors.forename: Shih-Feng
authors.initials: SF
authors.lastname: Tsai
authors.affiliation: Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108-8639, Japan. sikegawa@ims.u-tokyo.ac.jp.
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D007564:Japan; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D028061:Phosphate Transport Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D013167:Spondylitis, Ankylosing / Q000235:genetics* / Q000473:pathology
chemical_list: C498770:ANKH protein, human; D018398:Homeodomain Proteins; C084119:MSX2 protein; D028061:Phosphate Transport Proteins