title: Replication study of the association between adolescent idiopathic scoliosis and two estrogen receptor genes.
abstract: Adolescent idiopathic scoliosis (AIS) is a common disorder with a strong genetic predisposition. Associations between AIS and common single nucleotide polymorphisms (SNPs) in estrogen receptor genes have been reported. rs9340799 in the gene for estrogen receptor α (ESR1) is reported to be associated with curve severity in Japanese and with AIS predisposition and curve severity in Chinese. In addition, rs1256120 in the gene for estrogen receptor β (ESR2) is reported to be associated with AIS predisposition and curve severity in Chinese. However, the sample sizes of these previous studies were small, and the associations of these SNPs have not been replicated. To examine the association between AIS and estrogen receptor genes, we investigated the association of rs9340799 and rs1256120 with AIS predisposition and curve severity using a large Japanese population, consisting of 798 AIS patients and 637 sex-matched controls. We found no association of either SNP with AIS predisposition or curve severity in the Japanese population. Considering the statistical power of the present study and the limitations of the previous reports, we conclude that the associations of rs9340799 and rs1256120 with AIS predisposition and curve severity are negative.
authors.affiliation: Center for Genomic Medicine, RIKEN, Minato-ku, 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; D044466:Asian People; D016022:Case-Control Studies; D002648:Child; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012600:Scoliosis / Q000235:genetics* / Q000473:pathology; D013131:Spine / Q000473:pathology
chemical_list: D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta