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All Journal Narra J
Aulia, Teuku N.
Unknown Affiliation
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Public Health

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Etiopathogenesis of adolescent idiopathic scoliosis (AIS): Role of genetic and environmental factors Aulia, Teuku N.; Djufri, Djufri; Gatam, Luthfi; Yaman, Aman
Narra J Vol. 3 No. 3 (2023): December 2023
Publisher : Narra Sains Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52225/narra.v3i3.217

Abstract

Adolescent idiopathic scoliosis (AIS) has been known to be related closely to genetic factors. Higher prevalence of AIS among individuals with family history of scoliosis suggesting critical roles of genetic in the pathogenesis of AIS. However, evidence also suggested that environmental factors such as latitude and sun exposure also play a critical role in the pathogenesis of the disease. While genetic factors played an important role in the occurrence of AIS, environmental factors are more likely to affect the progression of the disease. Although the pathogenesis of AIS remains elusive, current knowledge suggests that genetic factors and its interaction with environmental factors are crucial in the development of the disease, explaining differences in clinical characteristics of AIS across the globe. The aim of this review is to summarize the current knowledge of genetic and environmental factors contributing to AIS and their interactions.
Role of LBX1 rs11190870 polymorphism in adolescent idiopathic scoliosis in the Acehnese population: A preliminary study Aulia, Teuku N.; Gatam, Luthfi; Yaman, Aman; Djufri, Djufri
Narra J Vol. 5 No. 2 (2025): August 2025
Publisher : Narra Sains Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52225/narra.v5i2.2038

Abstract

Genome-wide association studies (GWAS) have identified the single nucleotide polymorphism (SNP) rs11190870 near the ladybird homeobox 1 (LBX1) gene as being associated with the susceptibility and severity of adolescent idiopathic scoliosis (AIS). However, no such genetic studies have been conducted in the Indonesian population. The aim of this study was to investigate the genetic profile of AIS patients in the Acehnese population, with a focus on LBX1 rs11190870, and to assess its association with disease severity. A total of 30 female AIS patients were included. Genetic analysis was performed to determine the rs11190870 genotype in each subject. The association between rs11190870 and curve progression, measured by Cobb angle, was analyzed using the Mann–Whitney U test. The T allele was found to be more prevalent (73.3%), with the TC genotype being the most common (53.3%). A significant association was observed between LBX1 rs11190870 and curve progression, where patients with the TT genotype exhibited a larger Cobb angle compared to those with TC or CC genotypes (p=0.01). This is the first study to characterize the genetic profile of AIS and its association with curve severity in the Acehnese population. These findings suggest that LBX1 rs11190870 may act as a disease modifier in AIS. Further studies with larger sample sizes are warranted to confirm the role of LBX1 rs11190870 in AIS susceptibility and severity in the Indonesian population.
Co-Authors Djufri - Gatam, Luthfi yaman, aman