基因與健康的關聯
基因在健康結果中扮演著至關重要的角色，影響著疾病風險、治療選擇以及預防策略。根據一項涉及560種常見病症的研究，約40%的疾病與基因有關3。
目前已知有7,000種類的罕見疾病，其中超過80%是遺傳性，且其中70%的疾病在兒童期發病4。在亞太地區，罕見疾病的患病率相當高，約有2.58億人5 受到影響，其中一半是兒童。
基因攜帶者 (Carriers)
基因攜帶者 (genetic carrier) 是指擁有一個正常基因和一個突變基因的個體，這通常與常染色體隱性遺傳或性聯遺傳疾病有關。攜帶者通常無表現出該疾病的症狀，但可以將突變基因傳遞給後代。
許多人是基因突變的攜帶者，卻未意識到。例如，全球約36%的人口（27億人）是至少一種常染色體隱性遺傳性視網膜疾病的健康攜帶者6。
如果雙親都是同一疾病的攜帶者，則每個孩子有25%的機會遺傳兩個無效基因拷貝並表現出該疾病，50%的機會成為與父母相同的攜帶者，以及25%的機會遺傳兩個有效基因拷貝，既不會受影響也不會成為攜帶者。
生活方式與表觀遺傳學 (Epigenetics)：環境如何塑造基因
表觀遺傳學 (Epigenetics) 是研究環境因素（包括生活方式選擇）如何影響基因表達而不改變DNA序列本身的學科。這一領域顯示，飲食, 運動, 壓力及其他習慣可以通過改變表觀遺傳標記，如DNA甲基化和組蛋白修飾，顯著影響健康結果。
通過理解生活方式選擇如何影響表觀遺傳學，個體可以做出明智的決策來改善健康結果並減少基因風險。
References
- Nature news. https://www.nature.com/scitable/topicpage/inheritance-of-traits-by-offspring-follows-predictable-6524925/
- Loewe, L. (2008) Genetic mutation. Nature Education 1(1):113
- Stallard, T. (2023) Rare disease care across asia pacific, Sandpiper.
- Hlawulani (2019) New Scientific Paper confirms 300 million people living with a rare disease worldwide, Rare Diseases International.
- Pesheva, E. (2023) Researchers able to determine the effects of genes and environment in 560 common conditions, Harvard Gazette.
- Hanany, M., Rivolta, C., & Sharon, D. (2020). Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proceedings of the National Academy of Sciences, 117(5), 2710–2716. https://doi.org/10.1073/pnas.1913179117
- Abdul, Q. A., Yu, B. P., Chung, H. Y., Jung, H. A., & Choi, J. S. (2017). Epigenetic modifications of gene expression by lifestyle and environment. Archives of Pharmacal Research, 40(11), 1219–1237. https://doi.org/10.1007/s12272-017-0973-3
- Alegría-Torres, J. A., Baccarelli, A., & Bollati, V. (2011). Epigenetics and Lifestyle. Epigenomics, 3(3), 267–277. https://doi.org/10.2217/epi.11.22
- CDC. (2025, January 31). Epigenetics, Health, and Disease. Genomics and Your Health. https://www.cdc.gov/genomics-and-health/epigenetics/index.html
- Advantages of NGS Over Other Molecular Methods. (2020). Illumina.com. https://sapac.illumina.com/science/technology/next-generation-sequencing/beginners/advantages.html
- UF scientists test mouthwash method of collecting DNA – UF Health. (2023). Ufhealth.org. https://ufhealth.org/news/2002/uf-scientists-test-mouthwash-method-collecting-dna
- Zayats, T., Young, T. L., Mackey, D. A., Malecaze, F., Calvas, P., & Guggenheim, J. A. (2009). Quality of DNA Extracted from Mouthwashes. PLoS ONE, 4(7). https://doi.org/10.1371/journal.pone.0006165
- Lelieveld, S. H., Spielmann, M., Mundlos, S., Veltman, J. A., & Gilissen, C. (2015). Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutation, 36(8), 815–822. https://doi.org/10.1002/humu.22813
- Zhao, Y., Fang, L. T., Shen, T., Choudhari, S., Talsania, K., Chen, X., Shetty, J., Kriga, Y., Tran, B., Zhu, B., Chen, Z., Chen, W., Wang, C., Jaeger, E., Meerzaman, D., Lu, C., Idler, K., Ren, L., Zheng, Y., & Shi, L. (2021). Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study. Scientific Data, 8(1). https://doi.org/10.1038/s41597-021-01077-5
- Barbitoff, Y. A., Polev, D. E., Glotov, A. S., Serebryakova, E. A., Shcherbakova, I. V., Kiselev, A. M., Kostareva, A. A., Glotov, O. S., & Predeus, A. V. (2020). Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage. Scientific Reports, 10(1). https://doi.org/10.1038/s41598-020-59026-y
