Electronic Theses and Dissertation

ABSTRAK

Latar Belakang: Faktor kesukuan merupakan salah satu faktor penting dalam menjelaskan terjadi suatu penyakit yang belum diketahui secara pasti penyebabnya termasuk Adolescent Idiopathic Scoliosis (AIS). Penyakit ini bersifat progresif dan berdampak pada penurunan kualitas hidup penderitanya secara signifikan. Gen ladybird homeobox 1 (LBX1) termasuk gen yang paling dominan penyebab terjadinya AIS pada populasi Asia khususnya pada jenis kelamin perempuan. Penelitian ini bertujuan untuk mengevaluasi keterlibatan variasi gen LBX1 rs11190807 terhadap kejadian AIS pada suku Aceh.

Metode: Studi observasional melibatkan 30 perempuan penderita AIS suku Aceh. Evaluasi mencakup pemeriksaan klinis dan radiologis. Polymerase chain reaction dilakukan untuk evaluasi polimorfisme gen LBX1 rs11190807. Analisis mutasional genotipe (Hardy-Weinberg equilibrium) dan hubungannya terhadap derajat kelengkungan tulang belakang dilakukan menggunakan Fisher’s Exact test dan Mann Whitney U test dilakukan dengan tingkat kepercayaan 95%.

Hasil: Penderita AIS adalah memiliki rerata usia 15,8 tahun. Apeks skoliosis paling dominan pada vertebra torakalis VIII (30%) dengan rerata derajat kemiringan berdasarkan Cobb angle 22,8. Alel T pada gen LBX1 rs11190807 lebih dominan dibanding alel C dengan persentase sebesar 70%. Analisis model genotipe resesif (TT vs TC) dibandingkan kelompok kontrol tidak menunjukkan perbedaan bermakna OR 0,87 IK95 (0,109 – 7,054). Penderita AIS dengan genotipe Homozigot TT memiliki sudut Cobb yang lebih besar dibandingkan heterozigot TC (p = 0,01).

Kesimpulan: Gen LBX1 rs11190870 ditemukan pada seluruh penderita AIS suku Aceh. Temuan ini memperkuat dugaan keterlibatan gen LBX1 dalam mekanisme kejadian AIS pada populasi Asia.

Kata kunci: Adolescent Idiopathic Scoliosis, gen LBX1, suku Aceh

ABSTRACT Background: Ethnic factors are essential in explaining diseases with unknown causes, such as Adolescent Idiopathic Scoliosis (AIS). This disease is progressive and significantly impacts the quality of life of its sufferers. The ladybird homeobox 1 (LBX1) gene is one of the most dominant genes causing AIS in the Asian population, particularly in females. This study aims to evaluate the involvement of the LBX1 gene variation rs11190807 in the incidence of AIS among the Acehnese ethnic group. Methods: An observational study involving 30 women with AIS from Aceh. Evaluation included clinical and radiologic examination. A polymerase chain reaction was performed to evaluate the polymorphism of LBX1 gene rs11190807. Mutational analysis of genotypes (Hardy-Weinberg equilibrium) and their relationship to the degree of spinal curvature was performed using Fisher's Exact test and Mann-Whitney U test with a 95% confidence level. Results: Patients with AIS had a mean age of 15.8 years. The apex of scoliosis is most dominant in the VIII thoracic vertebra (30%), with a mean degree of tilt based on a Cobb angle of 22,8. The T allele in the LBX1 rs11190807 gene is more dominant than the C allele, with a percentage of 70%. Analysis of the recessive genotype model (TT vs TC) compared to the control group showed no significant difference OR 0.87 IK95 (0.109 - 7.054). Patients with AIS with homozygous genotype (TT) had a greater Cobb angle than heterozygous TC (p = 0.01). Conclusion: LBX1 rs11190870 gene was found in all Acehnese AIS patients. This finding strengthens the suspected involvement of the LBX1 gene in the mechanism of AIS incidence in Asian populations. Keywords: Adolescent Idiopathic Scoliosis, LBX1 gene, Acehnese ethnic group