Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Aug 1;42(15):1125-1129.
doi: 10.1097/BRS.0000000000002111.

Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population

Sen Liu  1   2   3 , Nan Wu  1   2   3 , Yuzhi Zuo  1 , Yangzhong Zhou  1 , Jiaqi Liu  1 , Zhenlei Liu  1 , Weisheng Chen  1 , Gang Liu  1 , Yixin Chen  1 , Jia Chen  1 , Mao Lin  1 , Yanxue Zhao  1 , Yue Ming  2 , Tangmi Yuan  1 , Xiao Li  1 , Zenan Xia  1 , Xu Yang  1 , Yufen Ma  1 , Jianguo Zhang  1 , Jianxiong Shen  1 , Shugang Li  1 , Yipeng Wang  1 , Hong Zhao  1 , Keyi Yu  1 , Yu Zhao  1 , Xisheng Weng  1   2   3 , Guixing Qiu  1   2   3 , Zhihong Wu  2   3
Affiliations

Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population

Sen Liu et al. Spine (Phila Pa 1976). .

Abstract

Study design: A case-control association study was performed to investigate the relationship between ladybird homeobox (LBX1) and adolescent idiopathic scoliosis (AIS) in northern Chinese Han population.

Objective: To explore the prevalence and functional importance of LBX1 polymorphisms in patients with AIS within the northern Chinese Han population.

Summary of background data: AIS is the most common subtype of idiopathic scoliosis. Genetic factors such as LBX1 polymorphisms have been recently proved to be associated with AIS in some populations. In this study we explored the prevalence and functional importance of the polymorphisms around LBX1 in patients with AIS within the northern Chinese Han population.

Methods: Five tag single nucleotide polymorphisms (SNPs) around or in LBX1 were genotyped in 180 patients with AIS and 182 controls. And the luciferase assay was performed to explore the functional importance of the most significant SNPs.

Results: We replicated that rs11190870, previously reported as the most significantly associated SNP, was enriched in our AIS cohort. In addition, we found that the T allele of rs1322331 was associated with a novel risk allele (odds ratio = 3.349, 95% confidence interval 1.742-6.436). In the following luciferase assay, the TT-type promoter showed significantly reduced transcription activity in vitro.

Conclusion: Two SNPs around LBX1, rs11190870 and rs1322331 are associated with AIS in northern Chinese Han population. The T allele of rs1322331 is a novel risk allele. We hypothesize that rs1322331 might increase patients' susceptibility to AIS by reducing LBX1-AS1 transcription and thus upregulating the function of LBX1.

Level of evidence: 3.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Hresko MT. Clinical practice. Idiopathic scoliosis in adolescents. N Engl J Med 2013; 368:834–841.
    1. Sharma S, Londono D, Eckalbar WL, et al. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nature Communications 2015; 6:6452.
    1. Kouwenhoven JW, Castelein RM. The pathogenesis of adolescent idiopathic scoliosis: review of the literature. Spine (Phila Pa 1976) 2008; 33:2898–2908.
    1. Riseborough EJ, Wynne-Davies R. A genetic survey of idiopathic scoliosis in Boston, Massachusetts. J Bone Joint Surg Am 1973; 55:974–982.
    1. Kesling KL, Reinker KA. Scoliosis in twins. A meta-analysis of the literature and report of six cases. Spine (Phila Pa 1976) 1997; 22:2009–2014. 2015.