| dc.contributor.advisor |
TEDI RUSTANDI |
|
| dc.contributor.advisor |
Muhammad Ma'ruf |
|
| dc.contributor.author |
REGINA NASTASYA |
|
| dc.contributor.editor |
REGINA NASTASYA |
|
| dc.contributor.other |
EKA KUMALASARI |
|
| dc.contributor.other |
NOVIA ARIANI |
|
| dc.date.accessioned |
2025-04-22T10:53:01Z |
|
| dc.date.available |
2025-04-22T10:53:01Z |
|
| dc.date.copyright |
Semua hak cipta dilindungi oleh Sistem eCampus dan eSchool |
|
| dc.date.issued |
2025-04-21 |
|
| dc.identifier |
210102053 |
|
| dc.identifier.citation |
Albin, R.L., 2018. Tourette syndrome: A disorder of the social decision-making network. Brain. https://doi.org/10.1093/brain/awx204 Al-Dossary, H., Fadhel, R.T., Badhduoh, S.S., Alatawi, N.A., Algethmi, R., Alwabel, A.H., Alzahrani, K., 2021. The Prevalence of Tourette Syndrome and Other Tic Disorders in Saudi Arabia. J Pharm Res Int 181–192. https://doi.org/10.9734/jpri/2021/v33i61b35500 Chao, T.K., Hu, J., Pringsheim, T., 2014. Prenatal risk factors for Tourette Syndrome: A systematic review. BMC Pregnancy Childbirth 14. https://doi.org/10.1186/1471-2393-14-53 Chen, Z., Boehnke, M., Wen, X., Mukherjee, B., 2021. Revisiting the genome-wide significance threshold for common variant GWAS. G3: Genes, Genomes, Genetics 11. https://doi.org/10.1093/g3journal/jkaa056 Collignon, A., Dion-Albert, L., Mnard, C., Coelho-Santos, V., 2024. Sex, hormones and cerebrovascular function: from development to disorder. Fluids Barriers CNS. https://doi.org/10.1186/s12987-023-00496-3 Costas, J., 2018. The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia. American Journal of Medical Genetics, Part https://doi.org/10.1002/ajmg.b.32545 B: Neuropsychiatric Genetics. Cravedi, E., Deniau, E., Giannitelli, M., Xavier, J., Hartmann, A., Cohen, D., 2017. Tourette syndrome and other neurodevelopmental disorders: A comprehensive review. Child Adolescent Psychiatry https://doi.org/10.1186/s13034-017-0196-xMent Health. European Bioinformatics Institute, 2024. What is Ensembl? [WWW Document]. URL https://www.ebi.ac.uk/training/online/courses/ensembl-browsing genomes/ensembl-tools/ (accessed 6.4.24). European Bioinformatics Institute, n.d. What is genetic variation [WWW Document]. URL https://www.ebi.ac.uk/training/online/courses/humangenetic-variation-introduction/what-is-genetic-variation/ (accessed 6.3.24). Farisandy, E.D., Asihputri, A., Pontoh, J.S., 2023. Peningkatan Pengetahuan dan Kesadaran Masyarakat Mengenai Kesehatan Mental. Jurnal Pengabdian kepada Masyarakat 5, 81–90. Garcia-Delgar, B., Servera, M., Coffey, B.J., Lzaro, L., Openneer, T., Benaroya Milshtein, N., Steinberg, Tami, Hoekstra, P.J., Dietrich, A., Morer, A., Apter, A., Baglioni, V., Ball, J., Bognar, E., Burger, B., Buse, J., Cardona, F., Vela, M.C., Debes, N.M., Ferro, M.C., Fremer, C., Garcia-Delgar, B., Gulisano, M., Hagen, A., Hagstrm, J., Hedderly, T.J., Heyman, I., Huyser, C., Madruga Garrido, M., Marotta, A., Martino, D., Mir, P., Mller, N., Mller-Vahl, K., Mnchau, A., Nagy, P., Neri, V., Openneer, T.J.C., Pellico, A., Plessen, K.J.,Porcelli, C., Rizzo, R., Roessner, V., Ruhrman, D., Schnell, J.M.L., Silvestri, P.R., Skov, L., Steinberg, Tamar, Gloor, F.T., Tarnok, Z., Walitza, S., Weidinger, E., 2022. Tic disorders in children and adolescents: does the clinical presentation differ in males and females? A report by the EMTICS group. Eur Child Adolesc Psychiatry https://doi.org/10.1007/s00787-021-01751-431, 1539–1548. Garris, J., Quigg, M., 2021a. The female Tourette patient: Sex differences in Tourette Disorder. Neurosci https://doi.org/10.1016/j.neubiorev.2021.08.001Biobehav Rev. Garris, J., Quigg, M., 2021b. The female Tourette patient: Sex differences in Tourette Disorder. Neurosci https://doi.org/10.1016/j.neubiorev.2021.08.001 Biobehav Rev. Golovina, E., Fadason, T., Lints, T.J., Walker, C., Vickers, M.H., O’Sullivan, J.M., 2021. Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex. Sci Rep 11. https://doi.org/10.1038/s41598-021-95447-z GTEx Portal, 2024. GTEx Portal [WWW Document]. URL https://www.gtexportal.org/home (accessed 6.4.24). GTEX Portal, 2019. Analysis Information Methods GTEX Portal [WWW Document]. URL https://gtexportal.org/home/methods (accessed 8.19.24). Haas, M., Jakubovski, E., Fremer, C., Dietrich, A., Hoekstra, P.J., Jger, B., MllernVahl, K.R., 2021. Yale Global Tic Severity Scale (YGTSS): Psychometric Quality of the Gold Standard for Tic Assessment Based on the Large-scale EMTICS Study. Front https://doi.org/10.3389/fpsyt.2021.626459 Psychiatry 12. Hartini, N., Fardana, N.A., Ariana, A.D., Wardana, N.D., 2018. Stigma toward people with mental health problems in Indonesia. Psychol Res Behav Manag 11, 535–541. https://doi.org/10.2147/PRBM.S175251 Hartmann, A., Andrn, P., Atkinson-Clement, C., Czernecki, V., Delorme, C., Debes, N.M., Szejko, N., Ueda, K., Black, K., 2022. Tourette syndrome research highlights from https://doi.org/10.12688/f1000research.122708.12021.F1000Res. Hermann, E.R., Chambers, E., Davis, D.N., Montgomery, M.R., Lin, D., Chowanadisai, W., 2021. Brain Magnetic Resonance Imaging Phenome-Wide Association Study With Metal Transporter Gene SLC39A8. Front Genet 12. https://doi.org/10.3389/fgene.2021.647946 Imelia, B., Fitri, S., 2020. Review of Gilles de la Tourette Syndrome. Journal of Psychiatry Psychology and Behavioral https://doi.org/10.21776/ub.jppbr.2020.001.02.3, Research 1, 7–13. Irham, M., Dania, H., Maliza, R., Faridah, I., Perwitasari, D., 2022. Farmakogenetik-Farmakogenomik: Menuju Precision Medicine. UAD PRESS, Daerah Istimewa Yogyakarta. Irham, M., Nova Puspitaningrum, A., Adikusuma, W., Mugyanto, E., Brahmadhi, A., Noor Djalilah, G., Dani Satria, R., Wira Septama Satria, A., 2023. Identifikasi Variasi Gen yang Bersifat Missense/Nonsense Pada Dermatomyositis Dengan Memanfaatkan Database Genomik Dan Bioinformatik. Original Article https://doi.org/10.20956/mff.v27i1.22185 MFF 27, 5–9. Jafari, F., Abbasi, P., Rahmati, M., Hodhodi, T., Kazeminia, M., 2022. Systematic Review and Meta-Analysis of Tourette Syndrome Prevalence; 1986 to 2022. Pediatr Neurol 137, 6–16. https://doi.org/10.1016/j.pediatrneurol.2022.08.010 Kaiser, V.B., Svinti, V., Prendergast, J.G., Chau, Y.Y., Campbell, A., Patarcic, I., Barroso, I., Joshi, P.K., Hastie, N.D., Miljkovic, A., Taylor, M.S., Scotland, G., Enroth, S., Memari, Y., Kolb-Kokocinski, A., Wright, A.F., Gyllensten, U., Durbin, R., Rudan, I., Campbell, H., Polaek, O., Johansson, ., Sauer, S., Porteous, D.J., Fraser, R.M., Drake, C., Vitart, V., Hayward, C., Semple, C.A., Wilson, J.F., 2015a. Homozygous loss-of-function variants in European cosmopolitan and isolate populations. Hum Mol Genet 24, 5464–5474. https://doi.org/10.1093/hmg/ddv272 Kaiser, V.B., Svinti, V., Prendergast, J.G., Chau, Y.Y., Campbell, A., Patarcic, I., Barroso, I., Joshi, P.K., Hastie, N.D., Miljkovic, A., Taylor, M.S., Scotland, G., Enroth, S., Memari, Y., Kolb-Kokocinski, A., Wright, A.F., Gyllensten, U., Durbin, R., Rudan, I., Campbell, H., Polaek, O., Johansson, ., Sauer, S., Porteous, D.J., Fraser, R.M., Drake, C., Vitart, V., Hayward, C., Semple, C.A., Wilson, J.F., 2015b. Homozygous loss-of-function variants in European cosmopolitan and isolate populations. Hum Mol Genet 24, 5464–5474. https://doi.org/10.1093/hmg/ddv272 Kessler, A.T., Bhatt, A.A., 2018. Review of the Major and Minor Salivary Glands, Part 1: Anatomy, Infectious, and Inflammatory Processes. J Clin Imaging Sci 8, 47. https://doi.org/10.4103/jcis.jcis_45_18 Lee, E.H., Kim, S.M., Kim, C.H., Pagire, S.H., Pagire, H.S., Chung, H.Y., Ahn, J.H., Park, C.H., 2019. Dopamine neuron induction and the neuroprotective effects of thyroid hormone derivatives. https://doi.org/10.1038/s41598-019-49876-6 Sci Rep 9. Levine, J.L.S., Szejko, N., Bloch, M.H., 2019. Meta-analysis: Adulthood prevalence of Tourette syndrome. Prog Neuropsychopharmacol Biol Psychiatry. https://doi.org/10.1016/j.pnpbp.2019.109675 Liu, Z., Zhang, J., Sun, Y., Perea-Chamblee, T.E., Manley, J.L., Rabadan, R., 2020. Pan-cancer analysis identifies mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation. Proc Natl Acad Sci U S A 117, 10305–10312. https://doi.org/10.1073/pnas.1922622117/-/DCSupplemental MacArthur, J., Bowler, E., Cerezo, M., Gil, L., Hall, P., Hastings, E., Junkins, H., McMahon, A., Milano, A., Morales, J., MayPendlington, Z., Welter, D., Burdett, T., Hindorff, L., Flicek, P., Cunningham, F., Parkinson, H., 2017. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res 45, D896–D901. https://doi.org/10.1093/nar/gkw1133 Ma’ruf, M., Fadli, J.C., Mahendra, M.R., Irham, L.M., Sulistyani, N., Adikusuma, W., Chong, R., Septama, A.W., 2023. A bioinformatic approach to identify pathogenic variants for Stevens-Johnson syndrome. Genomics Inform 21. https://doi.org/10.5808/gi.23010 Migeon, B.R., 2020. X-linked diseases: susceptible females. Genetics in Medicine 22, 1156–1174. https://doi.org/10.1038/s41436 Mohammadi, P., Castel, S.E., Brown, A.A., Lappalainen, T., 2017. Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change. Genome Res 27, 1872–1884. https://doi.org/10.1101/gr.216747.116 Mulia, R., Dhea Cantika, C., Hikmah, N.N., Irham, L.M., Sulistayani, N., Adikusuma, W., Wira Septama, A., 2023. Identifikasi Variasi Gen yang Berpotensi Menyebabakan Penyakit Arterial Mengintegrasikan database Genomik dan Bioinformatik. Fibrilasi dengan National Human Genome Research Institute, 2024. Definition GWAS catalog [WWW Document]. URL https://www.genome.gov/genetics glossary/Genome-Wide-Association-Studies (accessed 6.4.24). Nationals Institutes of Health, 2024. NCI Dictionaries - SNP [WWW Document]. URL https://www.cancer.gov/publications/dictionaries/genetics dictionary/def/snp (accessed 6.4.24). Nomura, Y., 2022a. Pharmacological therapy for Tourette syndrome: What medicine can do and cannot do https://doi.org/10.1016/j.bj.2021.09.002 Biomed J. Novotny, M., Valis, M., Klimova, B., 2018. Tourette syndrome: A mini-review. Front Neurol. https://doi.org/10.3389/fneur.2018.00139 Park, J.H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grneberg, M., Marquardt, T., 2018. SLC39A8 deficiency: Biochemical correction and major clinical improvement by manganese therapy. Genetics in Medicine 20, 259–268.https://doi.org/10.1038/gim.2017.106 Prima, E., 2015. Peran Penerimaan Sosial Terhadap Psikopatologi Perkembangan Sindrom Tourette pada Perempuan. Yin Yang 10, 135–147. Qi, X., Wen, Y., Li, P., Liang, C., Cheng, B., Ma, M., Cheng, S., Zhang, L., Liu, L., Kafle, O.P., Zhang, F., 2020. An integrative analysis of genome-wide association study and regulatory SNP annotation datasets identified candidate genes for bipolar disorder. Int https://doi.org/10.1186/s40345-019-0170-z J Bipolar Disord 8. Ramkiran, S., Heidemeyer, L., Gaebler, A., Shah, N.J., Neuner, I., 2019. Alterations in basal ganglia-cerebello-thalamo-cortical connectivity and whole brain functional network topology in Tourette’s syndrome. Neuroimage Clin 24. https://doi.org/10.1016/j.nicl.2019.101998 Ramkiran, S., Veselinovi, T., Dammers, J., Gaebler, A.J., Rajkumar, R., Shah, N.J., Neuner, I., 2023. How brain networks tic: Predicting tic severity through rs fMRI dynamics in Tourette syndrome. Hum Brain Mapp 44, 4225–4238. https://doi.org/10.1002/hbm.26341 Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Gne, O., Hall, P., Hayhurst, J., Ibrahim, A., Ji, Y., John, S., Lewis, E., Macarthur, J.A.L., Mcmahon, A., Osumi-Sutherland, D., Panoutsopoulou, K., Pendlington, Z., Ramachandran, S., Stefancsik, R., Stewart, J., Whetzel, P., Wilson, R., Hindorff, L., Cunningham, F., Lambert, S.A., Inouye, M., Parkinson, H., Harris, L.W., 2023. The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource. Nucleic Acids Res 51, D977–D985. https://doi.org/10.1093/nar/gkac1010 Sun, B.B., Kurki, M.I., Foley, C.N., Mechakra, A., Chen, C.Y., Marshall, E., Wilk, J.B., Ghen, C.Y., Wilk, J.B., Runz, H., Chahine, M., Chevalier, P., Christ, G., Palotie, A., Daly, M.J., Runz, H., 2022. Genetic associations of protein-coding variants in human disease. https://doi.org/10.1038/s41586-022-04394-w Nature 603, 95–102. Vidal, S., Xiol, C., Pascual-alonso, A., O’callaghan, M., Pineda, M., Armstrong, J., 2019. Genetic landscape of rett syndrome spectrum: Improvements and challenges. Int J Mol Sci. https://doi.org/10.3390/ijms20163925 Wang, S., Wang, B., Drury, V., Drake, S., Sun, N., Alkhairo, H., Arbelaez, J., Duhn, C., Bromberg, Y., Brown, L.W., Cao, X., Cheon, K.A., Cheong, K., Choi, H., Coffey, B.J., Deng, L., Fremer, C., Garcia-Delgar, B., Gilbert, D.L., Glover, D., Grice, D.E., Hagstrm, J., Hedderly, T., Heyman, I., Hong, H.J., Huyser, C., Kim, H., Kim, Y.K., Kim, E., Kim, Y.S., King, R.A., Koh, Y.J., Kook, S., Kuperman, S., Lee, J., Leventhal, B.L., Madruga-Garrido, M., Mingbunjerdsuk, D., Mir, P., Morer, A., Murphy, T.L., Mller-Vahl, K., Mnchau, A., Nasello, C., Oh, D.H., Plessen, K.J., Roessner, V., Shin, E.Y., Song, D.H., Song, J., Thackray, J.K., Visscher, F., Zinner, S.H., Bal, V.H., Langley, K., Martin, J., Hoekstra, P.J., Dietrich, A., Xing, J., Heiman, G.A., Tischfield, J.A., Fernandez, T. V., Owen, M.J., O’Donovan, M.C., Thapar, A., State, M.W., Willsey, A.J., 2023. Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD. Nat Commun 14. https://doi.org/10.1038/s41467-023-43776-0 Ward, L.D., Kellis, M., 2016. HaploReg v4: Systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Nucleic Acids https://doi.org/10.1093/nar/gkv1340 Res 44, D877–D881. Xu, X., Lu, F., Du, S., Zhao, X., Li, H., Zhang, L., Tang, J., 2022. Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54. Frontiers Pediatric. https://doi.org/10.3389/fped.2022.997274 Yang, J., Hirsch, L., Martino, D., Jette, N., Roberts, J., Pringsheim, T., 2016. The prevalence of diagnosed tourette syndrome in Canada: A national population based study. Movement https://doi.org/10.1002/mds.26766 Disorders 31, 1658–1663. |
|
| dc.identifier.uri |
https://ecampus.stikes-isfi.ac.id/isfi/al?d=Mewn8%2BNMWck3ZJPz%2Buo9zFw3TrrMLs8F1XXRsvt2kGu7yv0YrxKNKySL2V%2BIWE6375BXIaDRQjKGZt5VuyCCiOYTVyHG7KXDKB0h9zTNOvdgxjbPMFzJiDjt5c%2FC1Szne95LFryN92Fqo5sL3fCuYmIdQ%2B8Yp9QskH3p9n%2FQQSCKUMAC%2FbtNLD8FG0FyhCuR |
|
| dc.identifier.uri |
https://repo.stikes-isfi.ac.id/xmlui/handle/123456789/268 |
|
| dc.description |
Kata Kunci :
Tourette syndrome, Database genomik, SNP
Referensi :
Albin, R.L., 2018. Tourette syndrome: A disorder of the social decision-making network. Brain. https://doi.org/10.1093/brain/awx204 Al-Dossary, H., Fadhel, R.T., Badhduoh, S.S., Alatawi, N.A., Algethmi, R., Alwabel, A.H., Alzahrani, K., 2021. The Prevalence of Tourette Syndrome and Other Tic Disorders in Saudi Arabia. J Pharm Res Int 181–192. https://doi.org/10.9734/jpri/2021/v33i61b35500 Chao, T.K., Hu, J., Pringsheim, T., 2014. Prenatal risk factors for Tourette Syndrome: A systematic review. BMC Pregnancy Childbirth 14. https://doi.org/10.1186/1471-2393-14-53 Chen, Z., Boehnke, M., Wen, X., Mukherjee, B., 2021. Revisiting the genome-wide significance threshold for common variant GWAS. G3: Genes, Genomes, Genetics 11. https://doi.org/10.1093/g3journal/jkaa056 Collignon, A., Dion-Albert, L., Mnard, C., Coelho-Santos, V., 2024. Sex, hormones and cerebrovascular function: from development to disorder. Fluids Barriers CNS. https://doi.org/10.1186/s12987-023-00496-3 Costas, J., 2018. The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia. American Journal of Medical Genetics, Part https://doi.org/10.1002/ajmg.b.32545 B: Neuropsychiatric Genetics. Cravedi, E., Deniau, E., Giannitelli, M., Xavier, J., Hartmann, A., Cohen, D., 2017. Tourette syndrome and other neurodevelopmental disorders: A comprehensive review. Child Adolescent Psychiatry https://doi.org/10.1186/s13034-017-0196-xMent Health. European Bioinformatics Institute, 2024. What is Ensembl? [WWW Document]. URL https://www.ebi.ac.uk/training/online/courses/ensembl-browsing genomes/ensembl-tools/ (accessed 6.4.24). European Bioinformatics Institute, n.d. What is genetic variation [WWW Document]. URL https://www.ebi.ac.uk/training/online/courses/humangenetic-variation-introduction/what-is-genetic-variation/ (accessed 6.3.24). Farisandy, E.D., Asihputri, A., Pontoh, J.S., 2023. Peningkatan Pengetahuan dan Kesadaran Masyarakat Mengenai Kesehatan Mental. Jurnal Pengabdian kepada Masyarakat 5, 81–90. Garcia-Delgar, B., Servera, M., Coffey, B.J., Lzaro, L., Openneer, T., Benaroya Milshtein, N., Steinberg, Tami, Hoekstra, P.J., Dietrich, A., Morer, A., Apter, A., Baglioni, V., Ball, J., Bognar, E., Burger, B., Buse, J., Cardona, F., Vela, M.C., Debes, N.M., Ferro, M.C., Fremer, C., Garcia-Delgar, B., Gulisano, M., Hagen, A., Hagstrm, J., Hedderly, T.J., Heyman, I., Huyser, C., Madruga Garrido, M., Marotta, A., Martino, D., Mir, P., Mller, N., Mller-Vahl, K., Mnchau, A., Nagy, P., Neri, V., Openneer, T.J.C., Pellico, A., Plessen, K.J.,Porcelli, C., Rizzo, R., Roessner, V., Ruhrman, D., Schnell, J.M.L., Silvestri, P.R., Skov, L., Steinberg, Tamar, Gloor, F.T., Tarnok, Z., Walitza, S., Weidinger, E., 2022. Tic disorders in children and adolescents: does the clinical presentation differ in males and females? A report by the EMTICS group. Eur Child Adolesc Psychiatry https://doi.org/10.1007/s00787-021-01751-431, 1539–1548. Garris, J., Quigg, M., 2021a. The female Tourette patient: Sex differences in Tourette Disorder. Neurosci https://doi.org/10.1016/j.neubiorev.2021.08.001Biobehav Rev. Garris, J., Quigg, M., 2021b. The female Tourette patient: Sex differences in Tourette Disorder. Neurosci https://doi.org/10.1016/j.neubiorev.2021.08.001 Biobehav Rev. Golovina, E., Fadason, T., Lints, T.J., Walker, C., Vickers, M.H., O’Sullivan, J.M., 2021. Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex. Sci Rep 11. https://doi.org/10.1038/s41598-021-95447-z GTEx Portal, 2024. GTEx Portal [WWW Document]. URL https://www.gtexportal.org/home (accessed 6.4.24). GTEX Portal, 2019. Analysis Information Methods GTEX Portal [WWW Document]. URL https://gtexportal.org/home/methods (accessed 8.19.24). Haas, M., Jakubovski, E., Fremer, C., Dietrich, A., Hoekstra, P.J., Jger, B., MllernVahl, K.R., 2021. Yale Global Tic Severity Scale (YGTSS): Psychometric Quality of the Gold Standard for Tic Assessment Based on the Large-scale EMTICS Study. Front https://doi.org/10.3389/fpsyt.2021.626459 Psychiatry 12. Hartini, N., Fardana, N.A., Ariana, A.D., Wardana, N.D., 2018. Stigma toward people with mental health problems in Indonesia. Psychol Res Behav Manag 11, 535–541. https://doi.org/10.2147/PRBM.S175251 Hartmann, A., Andrn, P., Atkinson-Clement, C., Czernecki, V., Delorme, C., Debes, N.M., Szejko, N., Ueda, K., Black, K., 2022. Tourette syndrome research highlights from https://doi.org/10.12688/f1000research.122708.12021.F1000Res. Hermann, E.R., Chambers, E., Davis, D.N., Montgomery, M.R., Lin, D., Chowanadisai, W., 2021. Brain Magnetic Resonance Imaging Phenome-Wide Association Study With Metal Transporter Gene SLC39A8. Front Genet 12. https://doi.org/10.3389/fgene.2021.647946 Imelia, B., Fitri, S., 2020. Review of Gilles de la Tourette Syndrome. Journal of Psychiatry Psychology and Behavioral https://doi.org/10.21776/ub.jppbr.2020.001.02.3, Research 1, 7–13. Irham, M., Dania, H., Maliza, R., Faridah, I., Perwitasari, D., 2022. Farmakogenetik-Farmakogenomik: Menuju Precision Medicine. UAD PRESS, Daerah Istimewa Yogyakarta. Irham, M., Nova Puspitaningrum, A., Adikusuma, W., Mugyanto, E., Brahmadhi, A., Noor Djalilah, G., Dani Satria, R., Wira Septama Satria, A., 2023. Identifikasi Variasi Gen yang Bersifat Missense/Nonsense Pada Dermatomyositis Dengan Memanfaatkan Database Genomik Dan Bioinformatik. Original Article https://doi.org/10.20956/mff.v27i1.22185 MFF 27, 5–9. Jafari, F., Abbasi, P., Rahmati, M., Hodhodi, T., Kazeminia, M., 2022. Systematic Review and Meta-Analysis of Tourette Syndrome Prevalence; 1986 to 2022. Pediatr Neurol 137, 6–16. https://doi.org/10.1016/j.pediatrneurol.2022.08.010 Kaiser, V.B., Svinti, V., Prendergast, J.G., Chau, Y.Y., Campbell, A., Patarcic, I., Barroso, I., Joshi, P.K., Hastie, N.D., Miljkovic, A., Taylor, M.S., Scotland, G., Enroth, S., Memari, Y., Kolb-Kokocinski, A., Wright, A.F., Gyllensten, U., Durbin, R., Rudan, I., Campbell, H., Polaek, O., Johansson, ., Sauer, S., Porteous, D.J., Fraser, R.M., Drake, C., Vitart, V., Hayward, C., Semple, C.A., Wilson, J.F., 2015a. Homozygous loss-of-function variants in European cosmopolitan and isolate populations. 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| dc.description.abstract |
Tourette syndrome adalah gangguan neuropsikiatrik yang disebabkan oleh kerusakan metabolisme neurotransmitter di otak, ditandai dengan gerakan dan vokal yang tidak dapat dikendalikan atau disebut dengan tics. Penyebab gangguan tourette syndrome dapat bersifat genetik maupun non genetik. Penyebab genetik berupa mutasi gen yang diidentifikasi melalui variasi gen pada Single Nucleotide Polymorphism (SNP). Tujuan dari penelitian ini adalah mengidentifikasi variasi gen yang berpengaruh pada tourette syndrome dan mengetahui distribusi frekuensi variasi gen yang memengaruhi tourette syndrome pada beberapa populasi di dunia.
Penelitian ini menggunakan desain deskriptif observasional. Populasi pada penelitian ini adalah semua data Single Nucleotide Polymorphism (SNP) penyakit tourette syndrome yang diperoleh dari GWAS Catalog yang berjumlah 220 data. Sampel pada penelitian ini adalah Single Nucleotide Polymorphism (SNP) yang memenuhi kriteria inklusi berupa SNP missense dengan p-value < 5 x 10-8. Metode pengambilan sampel menggunakan teknik purposive sampling. Data dianalisis secara deskriptif melalui integrasi berbagai database, yaitu HaploReg v4.2 untuk mengonfirmasi jenis gen yang mengalami mutasi missense, GTEX Portal untuk analisis ekspresi gen, dan Ensembl untuk analisis distribusi frekuensi alel pada penyakit tourette syndrome.
Hasil penelitian menunjukkan terdapat 5 variasi gen yang berpengaruh terhadap tourette syndrome yaitu rs13217619 dengan gen (ZSCAN12), rs4481150 dengan gen (ITIH3), rs2011503 dengan gen (SUGP1), rs7845911 dengan gen (DDHD2), dan rs35225200 dengan gen (SLC39A8). Variasi gen yang ditemukan pada kelima SNPs memiliki masing-masing ekspresi gen tertinggi pada jaringan brain-cerebellum, thyroid, testis, prostate, dan minor salivary gland. Populasi distribusi frekuensi alel serta SNP yang paling rentan terhadap tourette syndrome adalah benua Amerika (rs2011503) dengan frekuensi sebesar 88,2%. |
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| dc.publisher |
Farmasi Klinis dan Komunitas |
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| dc.subject |
Tourette syndrome, Database genomik, SNP |
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| dc.title |
IDENTIFIKASI VARIASI GEN PADA PENYAKIT TOURETTE SYNDROME DENGAN MENGGUNAKAN DATABASE GENOMIK DAN BIOINFORMATIKA |
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| dc.type |
Thesis S1 |
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