在东南欧人群中,LBX1基因附近的多态性位点与特发性脊柱侧凸易感性之间存在正相关。

IF 2 4区 医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Journal of applied biomedicine Pub Date : 2019-09-01 Epub Date: 2019-07-04 DOI:10.32725/jab.2019.011
Svetla Nikolova, Milka Dikova, Dobrin Dikov, Assen Djerov, Alexey Savov, Ivo Kremensky, Alexandre Loukanov
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引用次数: 3

摘要

特发性脊柱侧凸(IS)是儿童常见的医学疾病,其特征是脊柱三维弯曲和遗传易感性的有力证据。本病例对照研究的目的是研究LBX1基因附近的多态变异rs11190870 (T/C)与发病年龄、家族史和性别不同亚组is易感性之间的关系。总共招募了127名IS患者和254名东南欧血统的无关对照。采用TaqMan实时扩增技术进行基因分型。采用Pearson's卡方检验和Fisher's精确检验对结果进行分析,p < 0.05为有统计学意义。T等位基因和纯合子TT基因型与较高的IS发病率相关。我们的研究结果表明,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。需要进行更大规模的病例对照研究,以检查婴儿、青少年和男性中IS/AIS病因的遗传因素。总之,诊断和预后分子标记的分子遗传学鉴定将使早期治疗包括微创手术成为可能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population.

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.

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来源期刊
Journal of applied biomedicine
Journal of applied biomedicine PHARMACOLOGY & PHARMACY-
CiteScore
2.40
自引率
7.70%
发文量
13
审稿时长
>12 weeks
期刊介绍: Journal of Applied Biomedicine promotes translation of basic biomedical research into clinical investigation, conversion of clinical evidence into practice in all medical fields, and publication of new ideas for conquering human health problems across disciplines. Providing a unique perspective, this international journal publishes peer-reviewed original papers and reviews offering a sensible transfer of basic research to applied clinical medicine. Journal of Applied Biomedicine covers the latest developments in various fields of biomedicine with special attention to cardiology and cardiovascular diseases, genetics, immunology, environmental health, toxicology, neurology and oncology as well as multidisciplinary studies. The views of experts on current advances in nanotechnology and molecular/cell biology will be also considered for publication as long as they have a direct clinical impact on human health. The journal does not accept basic science research or research without significant clinical implications. Manuscripts with innovative ideas and approaches that bridge different fields and show clear perspectives for clinical applications are considered with top priority.
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