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Genetic polymorphism of LBX1 is associated with adolescent idiopathic scoliosis in northern Chinese Han population

Spine Aug 10, 2017

Liu S, et al. – This study was undertaken to assess the prevalence as well as functional significance of ladybird homeobox (LBX1) polymorphisms in patients with adolescent idiopathic scoliosis (AIS) within the northern Chinese Han population. Findings demonstrated that AIS in these subjects was associated with two single nucleotide polymorphisms (SNPs) around LBX1, rs11190870 and rs1322331. Importantly, the T allele of rs1322331 was identified as a novel risk allele. Furthermore, it was postulated that rs1322331 might increase patients’ susceptibility to AIS by attenuating LBX1–AS1 transcription and hence upregulating the function of LBX1.
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