Aulia Teuku N, Gatam Luthfi, Yaman Aman, Djufri Djufri
Doctoral Program of Medical Science, Faculty of Medicine, Universitas Syiah Kuala, Banda Aceh, Indonesia.
Department of Orthopedics and Traumatology, Faculty of Medicine, Universitas Syiah Kuala - Dr. Zainoel Abidin General Hospital, Banda Aceh, Indonesia.
Narra J. 2025 Aug;5(2):e2038. doi: 10.52225/narra.v5i2.2038. Epub 2025 May 13.
Genome-wide association studies (GWAS) have identified the single nucleotide polymorphism (SNP) rs11190870 near the () 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 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 rs11190870 and curve progression, where patients with the TT genotype exhibited a larger Cobb angle compared to those with TC or CC genotypes (=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 rs11190870 may act as a disease modifier in AIS. Further studies with larger sample sizes are warranted to confirm the role of rs11190870 in AIS susceptibility and severity in the Indonesian population.
全基因组关联研究（GWAS）已确定（）基因附近的单核苷酸多态性（SNP）rs11190870与青少年特发性脊柱侧凸（AIS）的易感性和严重程度相关。然而，尚未在印度尼西亚人群中开展此类基因研究。本研究的目的是调查亚齐人群中AIS患者的基因特征，重点关注rs11190870，并评估其与疾病严重程度的关联。共纳入30例女性AIS患者。进行基因分析以确定每个受试者的rs11190870基因型。使用曼-惠特尼U检验分析rs11190870与通过Cobb角测量的曲线进展之间的关联。发现T等位基因更为常见（73.3%），TC基因型最为常见（53.3%）。观察到rs11190870与曲线进展之间存在显著关联，其中TT基因型患者的Cobb角比TC或CC基因型患者更大（=0.01）。这是第一项描述亚齐人群中AIS基因特征及其与曲线严重程度关联的研究。这些发现表明rs11190870可能在AIS中作为一种疾病修饰因子发挥作用。有必要开展更大样本量的进一步研究，以证实rs11190870在印度尼西亚人群AIS易感性和严重程度中的作用。
