Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population

Nikolova, Svetla; Dikova, Milka; Dikov, Dobrin; Djerov, Assen; Savov, Alexey; Kremensky, Ivo; Loukanov, Alexandrе

doi:10.32725/jab.2019.011

Cited by 4 publications

(4 citation statements)

References 27 publications

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“…Further, the forward citation search located 11 more relevant reports. Therefore, 19 studies in total were included in this review 14–32 . The flow diagram of the study selection is illustrated in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

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Proprioception‐related gene mutations in relation to the aetiopathogenesis of idiopathic scoliosis: A scoping review

Lau

Kwan

Cheung

2023

Journal Orthopaedic Research

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Since idiopathic scoliosis is a multifactorial disorder, the proprioceptive defect is considered one of its etiological factors. Genetic studies have separately revealed this relationship, yet it remains indeterminate which specific genes that related to proprioception contributed to the initiation, progression, pathology, and treatment outcomes of the curvature. A systematic search was conducted on four online databases, including PubMed, Web of Science, Embase, and Academic search complete. Studies were included if they involved human or animal subjects with idiopathic scoliosis and evaluated with proprioceptive genes. The search period was the inception of the database to February 21, 2023. Four genes (i.e., Ladybird homeobox 1 [LBX1], Piezo type mechanosensitive ion channel component 2 [PIEZO2], Runx family transcription factor 3 [RUNX3], and neurotrophin 3 [NTF3]) investigated in 19 studies were included. LBX1 has confirmed the correlation with the development of idiopathic scoliosis in 10 ethnicities, whereas PIEZO2 has shown a connection with clinical proprioceptive tests in subjects with idiopathic scoliosis. However, curve severity was less likely to be related to the proprioceptive genes. The potential pathology took place at the proprioceptive neurons. Evidence of proprioception‐related gene mutations in association with idiopathic scoliosis was established. Nevertheless, the causation between the initiation, progression, and treatment outcomes with proprioceptive defect requires further investigation.

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Section: Resultsmentioning

confidence: 99%

“…Therefore, 19 studies in total were included in this review. [14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32] The flow diagram of the study selection is illustrated in (n = 3), respectively. Apart from the human subjects, mice and zebrafish were employed as study subjects.…”

Section: Selection Of Sources Of Evidencementioning

confidence: 99%

Proprioception‐related gene mutations in relation to the aetiopathogenesis of idiopathic scoliosis: A scoping review

Lau

Kwan

Cheung

2023

Journal Orthopaedic Research

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“…Fan et al [58] found an OR = 1.85 for the SNP rs11190870, which was higher than those reported in this systematic review. Similarly, Jiang et al [59], Liu et al [28], and Nikolova et al [60] analyzed the same SNP providing an OR = 1.51, OR = 0.61, and RR = 1.37, respectively.…”

Section: Discussionmentioning

confidence: 97%

The Role of Muscle Biomarkers in Adolescent Idiopathic Scoliosis

Roggio,

Trovato,

Sortino

et al. 2023

JCM

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Adolescent idiopathic scoliosis (AIS) is the predominant orthopedic disorder in children, affecting 1–3% of the global population. Research in this field has tried to delineate the genetic factors behind scoliosis and its association with heredity since AIS is considered a polygenic disease and has different genetic and epigenetic factors. The current study conducted a narrative review of the literature, focusing on biomarkers in the pathophysiology of muscle in AIS patients. Articles were collected from Scopus, Pubmed, and Web of Science. The key screening parameters were scoliosis classification, sampling, and the biomarkers evaluated. This review emphasizes potential key mechanisms and molecular regulators in muscle tissue. While there has been limited focus on the proteins contributing to muscle changes in AIS, significant attention has been given to genomic studies of single-nucleotide polymorphisms, particularly in LBX1. Despite these efforts, the exact causes of AIS remain elusive, with several theories suggesting genetic and hormonal factors. This review identified critical protein biomarkers such as Gi-protein alpha subunits, fibrillin-1 and -2, and various differentially expressed proteins, which may be linked to muscle alterations in AIS. This field of research is still limited due to a lack of homogeneity in the distinction of patients by groups and curve severity. Although the pathophysiology of AIS is still unclear, molecular research is important to guide the treatment of AIS before achieving skeletal maturity, thus avoiding serious problems associated with posture changes and low quality of life. In the future, a more comprehensive synergy between orthopedic and molecular research might ameliorate the diagnosis and treatment of AIS patients.

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“…The obtained results by descriptive analysis (frequency, mean, minimum, maximum, and standard deviation values) were summarized in tables. The hypothesis testing with a level of significance <0.05 was processed by the twotailed Fisher's Exact Test with the statistical package IBM SPSS Statistics 19.0 for Windows [13], [14].…”

Section: Statistical Data Processingmentioning

confidence: 99%

Preoperative Microbiological Screening in Pediatric Assessment of Skeletal Dysplasias Cases Before Planned Orthopedic Surgery

Dikova¹,

Nikolova

Loukanov

2021

Open Access Maced J Med Sci

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We report the preoperative microbiological screening of gram positive bacteria as a promising diagnostic approach for precise pediatric assessment of children with skeletal dysplasias who have undergone planned orthopedic surgery within a period of 10 years. The study was conducted on children with 29 different clinical diagnoses with preoperatively measured haemoglobin, platelets, blood glucose, serum glutamic-oxaloacetic transaminase, serum glutamic-pyruvic transaminase, serum creatinine, total protein, and fibrinogen. The performed preoperative microbiological screening involved the examination of nasal and throat secretions aiming to detect carrier and/or colonization of potentially pathogenic microflora in these upper respiratory tract niches. The documented statistical data demonstrated that 50.8 % of the cases had normal microflora, however the rest 49.2 % of the patients had potentially pathogenic bacteria. Among them, S. aureus was identified in 39.3% (as methicillin-susceptible or MSSA) and in 3.3% of the children (as methicillin-resistant or MRSA). The other predominant gram-positive bacteria were S. pneumoniae, S. pyogenes, M. catarrhalis, and C. albicans in 1.6, 0.8, 2.4 and 2.4 %, respectively. The infected patients have been at significantly higher risk for staph infections after surgical procedures than those with normal microflora. The presented microbiological screening proves the need for obligatory preoperative eradication of MRSA from nose niche, oral preoperative treatment of Streptococcus pyogenes and personalized preoperative antibacterial prophylaxis.

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Positive association between a polymorphic locus near the LBX1 gene and predisposition of idiopathic scoliosis in Southeastern European population

Cited by 4 publications

References 27 publications

Proprioception‐related gene mutations in relation to the aetiopathogenesis of idiopathic scoliosis: A scoping review

Proprioception‐related gene mutations in relation to the aetiopathogenesis of idiopathic scoliosis: A scoping review

The Role of Muscle Biomarkers in Adolescent Idiopathic Scoliosis

Preoperative Microbiological Screening in Pediatric Assessment of Skeletal Dysplasias Cases Before Planned Orthopedic Surgery

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