title: Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population.
abstract: Adolescent idiopathic scoliosis (AIS) is a spinal deformity most commonly arising in apparently healthy girls around puberty. AIS has a strong genetic predisposition. Several genetic associations between AIS and single nucleotide polymorphisms (SNPs) have been reported; common SNPs in the genes for matrilin 1 (MATN1), melatonin receptor 1B (MTNR1B), tryptophan hydroxylase 1 (TPH1), and insulin-like growth factor 1 (IGF1) are reported to be associated with AIS in Chinese. However, these associations have not been replicated so far. To confirm the associations, we compared these SNPs with AIS predisposition and curve severity in a population of Japanese females consisting of 798 AIS patients and 1,239 controls. All the subjects were genotyped using the PCR-based Invader assay. We found no association of any of the SNPs with AIS predisposition or curve severity. Considering the statistical power and sample size of the present study, we concluded that these SNPs are not associated with either AIS predisposition or curve severity in Japanese.
authors.affiliation: Laboratory of Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, 4-6-1 Sirokanedai, Minato-ku, Tokyo 108-8639, Japan; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.
authors.forename: Yohei
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Morio
authors.initials: M
authors.lastname: Matsumoto
authors.forename: Tatsuki
authors.initials: T
authors.lastname: Karasugi
authors.forename: Kota
authors.initials: K
authors.lastname: Watanabe
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Chiba
authors.forename: Noriaki
authors.initials: N
authors.lastname: Kawakami
authors.forename: Taichi
authors.initials: T
authors.lastname: Tsuji
authors.forename: Koki
authors.initials: K
authors.lastname: Uno
authors.forename: Teppei
authors.initials: T
authors.lastname: Suzuki
authors.forename: Manabu
authors.initials: M
authors.lastname: Ito
authors.forename: Hideki
authors.initials: H
authors.lastname: Sudo
authors.forename: Shohei
authors.initials: S
authors.lastname: Minami
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Kotani
authors.forename: Katsuki
authors.initials: K
authors.lastname: Kono
authors.forename: Haruhisa
authors.initials: H
authors.lastname: Yanagida
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Taneichi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Takahashi
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Toyama
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D000293:Adolescent; D000368:Aged; D000818:Animals; D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D064236:Cartilage Oligomeric Matrix Protein; D002648:Child; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D064235:Matrilin Proteins; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044123:Receptor, Melatonin, MT2 / Q000235:genetics*; D012600:Scoliosis / Q000208:ethnology / Q000235:genetics*; D014365:Tryptophan Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C577539:MATN1 protein, human; D064235:Matrilin Proteins; D044123:Receptor, Melatonin, MT2; C577553:TSP5 protein, human; D007334:Insulin-Like Growth Factor I; C497467:TPH1 protein, human; D014365:Tryptophan Hydroxylase