Lack of Association between Adolescent Idiopathic Scoliosis and Previously Reported Single Nucleotide Polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese Population

被引：48

作者：

Takahashi, Yohei ^{[1
,2
]}

Matsumoto, Morio ^{[2
]}

Karasugi, Tatsuki ^{[1
,3
]}

Watanabe, Kota ^{[2
]}

Chiba, Kazuhiro ^{[2
]}

Kawakami, Noriaki ^{[4
]}

Tsuji, Taichi ^{[4
]}

Uno, Koki ^{[5
]}

Suzuki, Teppei ^{[5
]}

Ito, Manabu ^{[6
]}

Sudo, Hideki ^{[6
]}

Minami, Shohei ^{[7
]}

Kotani, Toshiaki ^{[7
]}

Kono, Katsuki ^{[8
]}

Yanagida, Haruhisa ^{[9
]}

Taneichi, Hiroshi ^{[10
]}

Takahashi, Atsushi ^{[11
]}

Toyama, Yoshiaki ^{[2
]}

Ikegawa, Shiro ^{[1
]}

机构：

[1] RIKEN, Lab Bone & Joint Dis, Ctr Genom Med, Minato Ku, Tokyo 1088639, Japan

[2] Keio Univ, Sch Med, Dept Orthopaed Surg, Tokyo, Japan

[3] Kumamoto Univ, Dept Orthopaed & Neuromusculoskeletal Surg, Fac Med & Pharmaceut Sci, Kumamoto, Japan

[4] Meijo Hosp, Dept Orthopaed Surg, Nagoya, Aichi, Japan

[5] Kobe Med Ctr, Dept Orthopaed Surg, Natl Hosp Org, Kobe, Hyogo, Japan

[6] Hokkaido Univ, Dept Adv Med Spine & Spinal Cord Disorders, Grad Sch Med, Sapporo, Hokkaido, Japan

[7] Seirei Sakura Citizen Hosp, Dept Orthopaed Surg, Sakura, Japan

[8] Saiseikai Cent Hosp, Scoliosis Ctr, Tokyo, Japan

[9] Fukuoka Childrens Hosp, Dept Orthopaed Surg, Fukuoka, Japan

[10] Dokkyo Med Univ, Sch Med, Dept Orthopaed Surg, Mibu, Tochigi, Japan

[11] RIKEN, Lab Stat Anal, Ctr Genom Med, Tokyo 1088639, Japan

来源：

JOURNAL OF ORTHOPAEDIC RESEARCH | 2011年 / 29卷 / 07期

关键词：

adolescent idiopathic scoliosis; association; predisposition; curve severity; GENE POLYMORPHISMS; CANDIDATE REGIONS; GROWTH-HORMONE; SUSCEPTIBILITY; PATHOGENESIS; MELATONIN; RECEPTOR; LOCUS; IDENTIFICATION; ASSIGNMENT;

D O I：

10.1002/jor.21347

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

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. (C) 2011 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 29: 1055-1058, 2011

引用

页码：1055 / 1058

页数：4

共 32 条

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