SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese

被引：53

作者：

Fan, Yan-Hui ^{[2
]}

Song, You-Qiang ^{[2
]}

Chan, Danny ^{[2
]}

Takahashi, Yohei ^{[3
,4
]}

Ikegawa, Shiro ^{[3
]}

Matsumoto, Morio ^{[4
]}

Kou, Ikuyo ^{[3
]}

Cheah, Kathryn S. E. ^{[2
]}

Sham, Pak ^{[5
]}

Cheung, Kenneth M. C.

Luk, Keith D. K. ^{[1
]}

机构：

[1] Univ Hong Kong, Dept Orthopaed & Traumatol, Li Ka Shing Fac Med, Hong Kong, Hong Kong, Peoples R China

[2] Univ Hong Kong, Dept Biochem, Hong Kong, Hong Kong, Peoples R China

[3] RIKEN, Ctr Genom Med, Lab Bone & Joint Dis, Tokyo, Japan

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

[5] Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China

来源：

JOURNAL OF HUMAN GENETICS | 2012年 / 57卷 / 04期

关键词：

adolescent idiopathic scoliosis; replication study; rs11190870; southern Chinese; RECEPTOR GENE POLYMORPHISMS; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY; LOCUS; ASSIGNMENT; ETIOLOGY;

D O I：

10.1038/jhg.2012.11

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A study was conducted to validate the most significant single nucleotide polymorphism (SNP) from a genome-wide association study of Japanese adolescent idiopathic scoliosis (AIS) patients in an independent southern Chinese population. In total, 300 AIS patients fulfilled the clinical criteria and 788 controls with MRI scans of the spine were included in the replication study. We employed case-control analysis to study the association of SNP rs11190870 near LBX1 (ladybird homeobox 1) with AIS in a southern Chinese population. The results suggest that SNP rs11190870 is significantly associated with AIS (P=9.1x10(-10); odds ratio=1.85; 95% confidence interval=1.52-2.25). The results of this study confirm that SNP rs11190870 is associated with AIS. Journal of Human Genetics (2012) 57, 244-246; doi:10.1038/jhg.2012.11; published online 2 February 2012

引用

页码：244 / 246

页数：3

共 30 条

[1] Idiopathic scoliosis: identification of candidate regions on chromosome 19p13 [J].

Alden, Kris J. ;

Marosy, Beth ;

Nzegwu, Nneka ;

Justice, Cristina M. ;

Wilson, Alexander F. ;

Miller, Nancy H. .

SPINE, 2006, 31 (16) :1815-1819

[2] A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3 [J].

Chan, V ;

Fong, GCY ;

Luk, KDK ;

Yip, B ;

Lee, MK ;

Wong, MS ;

Lu, DDS ;

Chan, TK .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) :401-406

[3] Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population [J].

Chen, Zhijun ;

Tang, Nelson L. S. ;

Cao, Xingbin ;

Qiao, Di ;

Yi, Long ;

Cheng, Jack C. Y. ;

Qiu, Yong .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (04) :525-532

[4] Recent advances in the aetiology of adolescent idiopathic scoliosis [J].

Cheung, Kenneth M. C. ;

Wang, T. ;

Qiu, G. X. ;

Luk, Keith D. K. .

INTERNATIONAL ORTHOPAEDICS, 2008, 32 (06) :729-734

[5] CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis [J].

Gao, Xiaochong ;

Gordon, Derek ;

Zhang, Dongping ;

Browne, Richard ;

Helms, Cynthia ;

Gillum, Joseph ;

Weber, Samuel ;

Devroy, Shonn ;

Swaney, Saralove ;

Dobbs, Matthew ;

Morcuende, Jose ;

Sheffield, Val ;

Lovett, Michael ;

Bowcock, Anne ;

Herring, John ;

Wise, Carol .

AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (05) :957-965

[6] Association between estrogen receptor gene polymorphisms and curve severity of idiopathic scoliosis [J].

Inoue, M ;

Minami, S ;

Nakata, Y ;

Kitahara, H ;

Otsuka, Y ;

Isobe, K ;

Takaso, M ;

Tokunaga, M ;

Nishikawa, S ;

Maruta, T ;

Moriya, H .

SPINE, 2002, 27 (21) :2357-2362

[7] Familial idiopathic scoliosis - Evidence of an X-linked susceptibility locus [J].

Justice, CM ;

Miller, NH ;

Marosy, B ;

Zhang, J ;

Wilson, AF .

SPINE, 2003, 28 (06) :589-594

[8] Current concepts review - Etiology of idiopathic scoliosis: Current trends in research [J].

Lowe, TG ;

Edgar, M ;

Chir, M ;

Margulies, JY ;

Miller, NH ;

Raso, VJ ;

Reinker, KA ;

Rivard, CH .

JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 2000, 82A (08) :1157-1168

[9] Genetic analysis of structural elastic fiber and collagen genes in familial adolescent idiopathic scoliosis [J].

Miller, NH ;

Mims, B ;

Child, A ;

Milewicz, DM ;

Sponseller, P ;

Blanton, SH .

JOURNAL OF ORTHOPAEDIC RESEARCH, 1996, 14 (06) :994-999

[10] Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis [J].

Montanaro, Lucio ;

Parisini, Patrizio ;

Greggi, Tiziana ;

Di Silvestre, Mario ;

Campoccia, Davide ;

Rizzi, Simona ;

Arciola, Carla Renata .

SCOLIOSIS AND SPINAL DISORDERS, 2006, 1

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