Literature Review: Pengaruh Polimorfisme Genetik Terhadap Kejadian Skoliosis Pada Anak Usia Sekolah

Novic Irawan Safutra, Jihan Adibah Taqiyyah, Sovia Maharani, Aryc Oktarian Jaya, Liya Agustin Umar

Sari


Signifikansi peran genetik dalam patogenesis skoliosis pada saat ini tetap menjadi isu yang menarik untuk dianalisis. Oleh karena itu, dilakukan penelitian untuk memperoleh pemahaman yang lebih mendalam mengenai gen-gen yang berperan dalam menyebabkan terjadinya skoliosis dan seberapa besar kontribusi genetik ini pada kejadian skoliosis pada anak. Penelitian ini menggunakan metode tinjauan literatur yang memanfaatkan data yang dikumpulkan dari serangkaian kegiatan penelitian. Berdasarkan analisis beberapa artikel, teridentifikasi beberapa gen seperti polimorfisme gen GPR126, gen MATN1, dan gen LBX1 yang memiliki pengaruh pada skoliosis pada anak usia sekolah. Diharapkan bahwa pemahaman yang lebih dalam terhadap fenomena ini akan memberikan dasar yang lebih kuat dalam upaya-upaya deteksi, intervensi, dan preventif terkait skoliosis.


Kata Kunci


Anak; Genetik; Polimorfisme; Skoliosis

Teks Lengkap:

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Referensi


Addai, D., Zarkos, J., Bowey, A.J., 2020. Current concepts in the diagnosis and management of adolescent idiopathic scoliosis. Childs Nerv Syst 36, 1111–1119. https://doi.org/10.1007/s00381-020-04608-4

AlNouri, M., Wada, K., Kumagai, G., Asari, T., Nitobe, Y., Morishima, T., Uesato, R., Aoki, M., Ishibashi, Y., 2022. The incidence and prevalence of early-onset scoliosis: a regional multicenter epidemiological study. The Spine Journal 22, 1540–1550. https://doi.org/10.1016/j.spinee.2022.03.016

Aulia, T.N., Djufri, D., Gatam, L., Yaman, A., 2023. Etiopathogenesis of adolescent idiopathic scoliosis (AIS): Role of genetic and environmental factors. Narra J 3, e217. https://doi.org/10.52225/narra.v3i3.217

Cheng, T., Einarsdottir, E., Kere, J., Gerdhem, P., 2022. Idiopathic scoliosis: a systematic review and meta-analysis of heritability. EFORT Open Rev 7, 414–421. https://doi.org/10.1530/EOR-22-0026

Cunin, V., 2015. Early-onset scoliosis – Current treatment. Orthopaedics & Traumatology: Surgery & Research 101, S109–S118. https://doi.org/10.1016/j.otsr.2014.06.032

De Salvatore, S., Ruzzini, L., Longo, U.G., Marino, M., Greco, A., Piergentili, I., Costici, P.F., Denaro, V., 2022. Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review. BMC Med Genomics 15, 115. https://doi.org/10.1186/s12920-022-01272-2

Dou, Q., Zhu, Z., Zhu, L., Wang, W., Guo, L., Ru, S., Chen, X., Yang, L., Lu, C., Yan, B., 2023. Academic-related factors and daily lifestyle habits associated with adolescent idiopathic scoliosis: a case-control study. Environ Health Prev Med 28, 23–23. https://doi.org/10.1265/ehpm.22-00243

Dunn J, Henrikson NB, Morrison CC, 2018. Screening for Adolescent Idiophatic Scoliosis: A Systematic Evidence Review for the U.S Preventive Services Task Force, in: Screening for Adolescent Idiophatic Scoliosis: A Systematic Evidence Review for the U.S Preventive Services Task Force. Rockville MD.

Jada, A., Mackel, C.E., Hwang, S.W., Samdani, A.F., Stephen, J.H., Bennett, J.T., Baaj, A.A., 2017. Evaluation and management of adolescent idiopathic scoliosis: a review. Neurosurgical Focus 43, E2. https://doi.org/10.3171/2017.7.FOCUS17297

Janusz, P., Tokłowicz, M., Andrusiewicz, M., Kotwicka, M., Kotwicki, T., 2022. Association of LBX1 Gene Methylation Level with Disease Severity in Patients with Idiopathic Scoliosis: Study on Deep Paravertebral Muscles. Genes (Basel) 13, 1556. https://doi.org/10.3390/genes13091556

Karimi, M.T., Rabczuk, T., 2018. Scoliosis conservative treatment: A review of literature. J Craniovertebr Junction Spine 9, 3–8. https://doi.org/10.4103/jcvjs.JCVJS_39_17

KEMENKES, 2021. PEDOMAN NASIONAL PELAYANAN KEDOKTERAN TATA LAKSANA SKOLIOSIS IDIOPATIK REMAJA.

Komang-Agung, I.S., Dwi-Purnomo, S.B., Susilowati, A., 2017. Prevalence Rate of Adolescent Idiopathic Scoliosis: Results of School-based Screening in Surabaya, Indonesia. Malays Orthop J 11, 17–22. https://doi.org/10.5704/MOJ.1711.011

Lopes, K.G., Rodrigues, E.L., da Silva Lopes, M.R., do Nascimento, V.A., Pott, A., Guimarães, R. de C.A., Pegolo, G.E., Freitas, K. de C., 2022. Adiposity Metabolic Consequences for Adolescent Bone Health. Nutrients 14, 3260. https://doi.org/10.3390/nu14163260

Luo, M., Zhang, Y., Huang, S., Song, Y., 2020. The Susceptibility and Potential Functions of the LBX1 Gene in Adolescent Idiopathic Scoliosis. Front Genet 11, 614984. https://doi.org/10.3389/fgene.2020.614984

Mackel, C.E., Jada, A., Samdani, A.F., Stephen, J.H., Bennett, J.T., Baaj, A.A., Hwang, S.W., 2018. A comprehensive review of the diagnosis and management of congenital scoliosis. Childs Nerv Syst 34, 2155–2171. https://doi.org/10.1007/s00381-018-3915-6

Murphy, R.F., Mooney, J.F., 2019. Current concepts in neuromuscular scoliosis. Curr Rev Musculoskelet Med 12, 220–227. https://doi.org/10.1007/s12178-019-09552-8

Sebaaly, A., Daher, M., Salameh, B., Ghoul, A., George, S., Roukoz, S., 2022. Congenital scoliosis: a narrative review and proposal of a treatment algorithm. EFORT Open Rev 7, 318–327. https://doi.org/10.1530/EOR-21-0121

Xu, E., Shao, W., Jiang, H., Lin, T., Gao, R., Zhou, X., 2019. A Genetic Variant in GPR126 Causing a Decreased Inclusion of Exon 6 Is Associated with Cartilage Development in Adolescent Idiopathic Scoliosis Population. BioMed Research International 2019, 1–8. https://doi.org/10.1155/2019/4678969

Xu, J.-F., Yang, G., Pan, X.-H., Zhang, S.-J., Zhao, C., Qiu, B.-S., Gu, H.-F., Hong, J.-F., Cao, L., Chen, Y., Xia, B., Bi, Q., Wang, Y.-P., 2015. Association of GPR126 gene polymorphism with adolescent idiopathic scoliosis in Chinese populations. Genomics 105, 101–107. https://doi.org/10.1016/j.ygeno.2014.11.009

Yilmaz, H., Zateri, C., Uludag, A., Bakar, C., Kosar, S., Ozdemir, O., 2012. Single‐nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: Curve progression is not related with MATN‐1, LCT C/T‐13910, and VDR BsmI. Journal Orthopaedic Research 30, 1459–1463. https://doi.org/10.1002/jor.22075




DOI: https://doi.org/10.33024/jikk.v11i7.15152

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