Genetic polymorphism: evolution with technological advances and future direction
Article Sidebar
Main Article Content
Abstract
Background:
Genetic polymorphisms emerge as one of the major contributing factors behind the variability in disease development and pathogenesis as well as drug response in individuals. Fortunately, in the last few decades, a range of technological advancements eased the way for polymorphic studies to reveal the association between genetic polymorphisms like single nucleotide polymorphisms (SNPs) or Variable number tandem repeats (VNTRs) and human diseases. Starting from Mendelian inheritance to recent Next Generation Sequencing (NGS) technologies not only helped to understand human disease biology better, but also paved the way towards personalised therapy by studying individual drug/therapy responses based on genetic makeup (mutation/variant) of individuals.
Method:
Literature mining from PubMed, Google Scholar, and Medline databases using keywords like ‘polymorphism’, ‘genetic polymorphism’, ‘SNP’, ‘VNTR’, ‘CNV’.
Result:
The massively parallel sequencing capability of the NGS facilitates clinicians towards therapeutic decisions and aids follow-up of patients by identifying minimal residual disease. However, this is just the beginning of the era of targeted and personalised therapy and the scientific world, only able to touch the tip of the iceberg, much focus is needed to develop more user-friendly and cost-effective technologies to reach more patients along with the development of much simpler and robust statistical methodologies to handle or interpret big data.
Article Details
References
References
Alper CA, Robin NI, Refetoff S (1971): Genetic polymorphism in rhesus C3 and Ge globulin. The Journal of Immunology. 107(1), 96-98.
Bailey AJ, Sims TJ, Lous L, Bazin, S (1975): Collagen polymorphism in experimental granulation tissue. Biochemical and Biophysical Research Communications; 66(4), 1160-5.
Bazin S, Bailey A, Lous ML, Nicoletis C, Delaunay A (1975): Collagen polymorphism in human scars. C R Acad Sci Hebd Seances Acad Sci D. 281(19), 1447-9.
Brieba, LG (2008): Template dependent human DNA polymerases. Current Topics in Medicinal Chemistry. 8(15), 1312-26.
Bruce HA, Sachs NA, Rudnicki DD, Lin SG, Willour VL, Cowell, JK, et al (2009). Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations. Psychiatric genetics. 19(2), 64-71.
Brues AM (1954): Selection and polymorphism in the A-B-O blood groups. American journal of physical anthropology. 12(4), 559-598.
Carpenter HG (1946): Mimetic polymorphism. Nature. 158, 277-279. https://doi.org/10.1038/158277a0.
Collins FS, Morgan M, Patrinos A. (2003): The human genome project: lessons from large-scale biology. Science. 300(5617), 286-90.
Crawford DC, Nickerson DA (2005). Definition and clinical importance of haplotypes. Annual review of Medicine. 56, 303-20. https://doi/org/10.1146/annurev.med.56.082103.104540.
Cunha ABD (1949): Genetic analysis of the polymorphism of color pattern in Drosophila polymorpha. Evolution. 3, 239-251. https://doi.org/10.1111/j.1558-5646.1949.tb00024.x.
Dijk ELV, Jaszczyszyn Y, Naquin D, Thermes C (2018): The third revolution in sequencing technology. Trends in Genetics. 34(9), 666-681.
Ellegren H, Galtier N (2016): Determinants of genetic diversity. Nature Reviews Genetics. 17(7), 422-433. https://doi.org/10.1038/nrg.201658.
Elsayed, AH, Cao X., Mitra AK, Wu H, Raimondi S, Cogle C, et al (2022): Polygenic Ara-C response score identifies pediatric patients with acute myeloid leukemia in need of chemotherapy augmentation. Journal of Clinical Oncology. 40(7), 772-783.
Kuehn M., Arnheim N (1983): Nucleotide sequence of the genetically labile repeated elements 5′ to the origin of mouse rRNA transcription. Nucleic Acids Research. 11(1), 211-224.
Murayama MIM (2009): Genetic polymorphism as a background of animal behavior. Animal Science Journal. 80(2), 113-20.
Orita M, Iwahana H, Kanazawa, H, Hayashi K, Sekiya T (1989): Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proceedings of the National Academy of Sciences of the United States of America. 86(8), 2766-70.
Ozberk D, Haywood A, George R, Good P, Hardy J, Sutherland HG., Yu, et al. (2022): Association of polymorphisms in ARRB2 and clinical response to methadone for pain in advanced cancer. Pharmacogenomics. doi: 10.2217/pgs-2021-0139.
Pearson J, Lemons D, McGinnis W (2005): Modulating Hox gene functions during animal body patterning. Nature Reviews Genetics. 6, 893-904. https://doi.org/10.1038/nrg1726.
Rao SR, Trivedi, S, Emmanuel, D, Merita K, Hynniewta M (2010): DNA repetitive sequences-types, distribution and function: a review. Journal of Cell and Molecular Biology. 7 and 8(2), 1-11.
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH., Andrews TD, et al (2006): Global variation in copy number in the human genome. Nature. 444(7118), 444-454.
Ritchie DA, Joicey, DH (1978): Formation of concatemeric DNA as an intermediate in the replication of bacteriophage T1 DNA molecules. Journal of General Virology. 41(3), 609-22.
Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski WJ, Davey M, et al (2011): An integrated semiconductor device enabling non-optical genome sequencing. Nature. 475(7356), 348-52.
Sanger F, Nicklen S, Coulson, AR (1977): DNA sequencing with chain-terminating inhibitiors. Proceeding of the National Academy of Sciences of the United States of America. 74(12), 5463-7.
Schmidt MH, Pearson CE. (2016): Disease-associated repeat instability and mismatch repair. DNA Repair. 38, 117-126. doi:10.1016/j.dnarep.2015.11.008.
Signor SA, Nuzhdin SV (2018): The evolution of gene expression in cis and trans. Trends in Genetics, 34(7), 532-544.
Sobrino B, Brion M, Carracedo A (2005): SNPs in forensic genetics: a review on SNP typing methodologies. Forensic Science International. 154(2-3), 181-94.
Somaia I, Mona E (2012): Genetic polymorphism studies in humans. Middle East Journal of Medical Genetics.1(2), 57-63.
Spada ARL (2002): Glutamine repeats and neurodegenerative diseases: molecular aspects. American Journal of Human Genetics. 70(3), 820-821.
Spritz RA (1981): Duplication/deletion polymorphism 5′-to the human beta globin gene. Nucleic Acids Research. 9(19), 5037-5047.
Teama S (2018): DNA polymorphisms: DNA-based molecular markers and their application in medicine. Genetic Diversity and Disease Susceptibility. DOI: 10.5772/intechopen.79517. ISBN: 978-1-83881-671-1.
Watson J, Crick, F (1953). Molecular structure of nucleic acids: a structure of deoxyribose nucleic acid. Nature. 171, 737-738. https://doi.org/10.1038/171737a0.
Willems T, Gymrek M, Highnam G, Mittelman D, Erlich Y (2014): The landscape of human STR variation. Genome Research, 24(11), 1894-904.
Wilson EO (1953): The origin and evolution of polymorphism in ants. The Quarterly Review of Biology. 28(2), 136-56.