Nikolova Svetla, Dikova Milka, Dikov Dobrin, Djerov Assen, Savov Alexey, Kremensky Ivo, Loukanov Alexandre
Sofia University, Lozenetz University Hospital, Laboratory of Medical Genetics and Molecular Biology, Sofia, Bulgaria.
Saitama University, Graduate School of Science and Engineering, Division of Strategic Research, Saitama, Japan.
J Appl Biomed. 2019 Sep;17(3):184-189. doi: 10.32725/jab.2019.011. Epub 2019 Jul 4.
Idiopathic scoliosis (IS) is a common medical condition in children, characterized by three-dimensional spinal curve and strong evidence of genetic predisposition. The purpose of the present case-control study is to examine the association between the polymorphic variant rs11190870 (T/C), near the LBX1 gene, and IS predisposition in distinct subgroups based on age at onset, family history and gender. A total of 127 IS patients and 254 unrelated controls of Southeastern European descent were recruited. The genotyping was carried out by TaqMan real-time amplification technology. The results were analyzed by the Pearson's Chi-squared Test and the Fisher's Exact Test with a value of p less than 0.05 as statistically significant. The T allele and homozygous TT genotype were associated with a greater incidence of IS. Our results suggest that there is a genetic association with IS in adolescents, familial and non-familial cases, and in females. Larger case-control studies are necessary to examine the genetic factors of IS/AIS etiology in infants, juveniles and males. In conclusion, the molecular genetic identification of diagnostic and prognostic molecular markers would make an early treatment including minimally invasive procedures possible.
特发性脊柱侧凸（IS）是儿童常见的病症，其特征为三维脊柱弯曲且有强有力的遗传易感性证据。本病例对照研究的目的是基于发病年龄、家族史和性别，在不同亚组中研究LBX1基因附近的多态性变体rs11190870（T/C）与IS易感性之间的关联。共招募了127例IS患者和254名东南欧血统的无关对照。通过TaqMan实时扩增技术进行基因分型。结果采用Pearson卡方检验和Fisher精确检验进行分析，p值小于0.05被视为具有统计学意义。T等位基因和纯合TT基因型与IS的较高发病率相关。我们的结果表明，在青少年、家族性和非家族性病例以及女性中，存在与IS的遗传关联。需要开展更大规模的病例对照研究，以研究婴儿、青少年和男性中IS/AIS病因的遗传因素。总之，诊断和预后分子标志物的分子遗传学鉴定将使包括微创手术在内的早期治疗成为可能。
