English
17 (1) 2022
Tính chất đột biến gene APOB và LDLR trên bệnh tăng cholesterol máu ở người Việt Nam
Tác giả liên hệ, Email:Ngày nộp: 18-09-2021
Ngày duyệt đăng: 10-10-2021 Ngày xuất bản: 30-03-2022
Tóm tắt
Từ khóa
Trích dẫn:
Truong, P. K., Do, T. N. M., Nguyen, T. B., & Le, T. H. A. (2022). Tính chất đột biến gene APOB và LDLR trên bệnh tăng cholesterol máu ở người Việt Nam [The characteristics of APOB and LDLR gene mutations in Vietnamese patients with hypercholesterolemia]. Tạp chí Khoa học Đại học Mở Thành phố Hồ Chí Minh – Kỹ thuật và Công nghệ, 17(1), 52-63. doi:10.46223/HCMCOUJS.tech.vi.17.1.2053.2022
Tài liệu tham khảo
Abdul-Razak, S., Rahmat, R., Kasim, A. M., Rahman, T. A., Muid, S., Nasir, N. M., ... Nawawi, H. (2017). Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population. BMC Cardiovascular Disorders, 17(1), 1-8.
Alves, A. C., Benito-Vicente, A., Medeiros, A. M., Reeves, K., Martin, C., & Bourbon, M. (2018). Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia. Atherosclerosis, 277(2018), 448-456.
Callis, M., Jansen, S., Thiart, R., de Villiers, J. N. P., Raal, F. J., & Kotze, M. J. (1998). Mutation analysis in familial hypercholesterolemia patients of different ancestries: Identification of three novel LDLR gene mutations. Molecular and Cellular Probes, 12(3), 149-152.
Chen, K., Mu, Y. M., Wang, B. A., Guo, Q. H., Lu, Z. H., Dou, J. T., & Lu, J. M. (2007). Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia. Metabolism, 56(5), 636-640.
Clinvar. (n.d.). Truy cập ngày 10/05/2021 tại Clinvar web: https://www.ncbi.nlm.nih.gov/clinvar/
Cục Y tế dự phòng Việt Nam. (2016). Rối loạn chuyển hóa lipid máu [Disorders of blood lipid metabolism]. Truy cập ngày 10/05/2021 tại https://vncdc.gov.vn/roi-loan-chuyen-hoa-lipid-mau-nd14588.html
Dedoussis, G. V., Schmidt, H., & Geneschel, J. (2004). LDL‐receptor mutations in Europe. Human Mutation, 24(6), 443-459.
Han, S. M., Hwang, B., Park, T. G., Kim, D. I., Rhee, M. Y., Lee, B. K., ... Lee, S. H. (2015). Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. PloS One, 10(5), Article e0126706.
Heath, K. E., Humphries, S. E., Middleton-Price, H., & Boxer, M. (2001). A molecular genetic service for diagnosing individuals with Familial Hypercholesterolaemia (FH) in the United Kingdom. European Journal of Human Genetics, 9(4), 244-252.
Henderson, R., O’Kane, M., McGilligan, V., & Watterson, S. (2016). The genetics and screening of familial hypercholesterolaemia. Journal of Biomedical Science, 23(1), 1-12.
Hill, M. F., & Bordoni, B. (2021). Hyperlipidemia. Truy cập ngày 11/08/2021 tại NCBI web: https://www.ncbi.nlm.nih.gov/books/NBK559182/
Hobbs, H. H., Brown, M. S., & Goldstein, J. L. (1992). Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Human Mutation, 1(6), 445-466.
Ibrahim, M. A., Asuka, E., & Jialal, I. (2021). Hypercholesterolemia. Truy cập ngày 11/08/2021 tại NCBI web: https://www.ncbi.nlm.nih.gov/books/NBK459188/
Leitersdorf, E., Van der Westhuyzen, D. R., Coetzee, G. A., & Hobbs, H. H. (1989). Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. The Journal of Clinical Investigation, 84(3), 954-961.
Leren, T. P., Manshaus, T., Skovholt, U., Skodje, T., Nossen, I. E., Teie, C., ... Bakken, K. S. (2004, February). Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: Results from a family-based screening program. In Seminars in vascular medicine (pp. 75-85). New York, NY: Thieme Medical Publishers.
Lombardi, M. P., Redeker, E. J., Defesche, J. C., Kamerling, S. W., Trip, M. D., Mannens, M. M., ... Kastelein, J. J. (2000). Molecular genetic testing for familial hypercholesterolemia: Spectrum of LDL receptor gene mutations in The Netherlands. Clinical Genetics, 57(2), 116-124.
LOVD. (n.d.). Truy cập ngày 11/05/2021 tại LOVD web: https://www.lovd.nl/
Ma, H., & Shieh, K. J. (2006). Cholesterol and human health. The Journal of American Science, 2(1), 46-50.
Meshkov, A., Ershova, A., Kiseleva, A., Zotova, E., Sotnikova, E., Petukhova, A., ... Drapkina, O. (2021). The LDLR, APOB, and PCSK9 variants of index patients with familial hypercholesterolemia in Russia. Genes, 12(1), Article 66.
Moyer, A. M., & Baudhuin, L. M. (2015). Genetic considerations in the treatment of familial hypercholesterolemia. Clinical Lipidology, 10(5), 387-403.
Mytilinaiou, M., Kyrou, I., Khan, M., Grammatopoulos, D. K., & Randeva, H. S. (2018). Familial hypercholesterolemia: New horizons for diagnosis and effective management. Frontiers in Pharmacology, 9(707), 1-29. doi:10.3389/fphar.2018.00707
Najam, O., & Ray, K. K. (2015). Familial hypercholesterolemia: A review of the natural history, diagnosis, and management. Cardiology and Therapy, 4(1), 25-38.
NCBI. (n.d.). High cholesterol: Overview. Truy cập ngày 11/05/2021 tại https://www.ncbi.nlm.nih.gov/books/NBK279318/?report=printable
Nordestgaard, B. G., Chapman, M. J., Humphries, S. E., Ginsberg, H. N., Masana, L., Descamps, O. S., ... European Atherosclerosis Society Consensus Panel. (2013). Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the European Atherosclerosis Society. European Heart Journal, 34(45), 3478-3490.
Ohta, K., Kuwayama, Y., Hirose, K., Shimizu, K., & Ohishi, Y. (2016). Experimental determination of the electrical resistivity of iron at Earth’s core conditions. Nature, 534(7605), 95-98.
Ronen, D., Ibe, U. K., Shoshi, S., Daniel, S., Marta, F., Ros, W., ... Meiner, V. (2017). Molecular genetics of familial hypercholesterolemia in Israel-revisited. Atherosclerosis, 263(2017), e279-e280.
Sharifi, M., Higginson, E., Bos, S., Gallivan, A., Harvey, D., Li, K. W., ... Humphries, S. E. (2017). Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia. Atherosclerosis, 263(2017), 405-411.
Sharifi, M., Walus-Miarka, M., Idzior-Waluś, B., Malecki, M. T., Sanak, M., Whittall, R., ... Humphries, S. E. (2016). The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. Metabolism, 65(3), 48-53.
The European Atherosclerosis Society (EAS). (n.d.). Truy cập ngày 11/05/2021 tại EAS web: https://www.eas-society.org/
Truong, H. T., Do, L. D., Kim, T. N., Nguyen, N. T. M., Le, T. T., & Le, A. H. (2020). Genetics, screening, and treatment of familial hypercholesterolemia: Experience gained from the implementation of the Vietnam familial hypercholesterolemia registry. Frontiers in Genetics, 11, Article 914.
Truong, P. K., Bui, C. V., Lao, T. D., & Le, T. H. A. (2017). Detection of defective Apolipoprotein B-100 R3500Q mutation caused familial hypercholesterolemia in Vietnamese patients. In International Conference on the Development of Biomedical Enginering in Vietnam (pp. 275-279). Singapore: Springer.
Truong, P. K., Lao, T. D., & Le, T. H. A. (2018). The major molecular causes of familial hypercholesterolemia. Asian Journal of Pharmaceutical Research and Health Care, 10(2), 60-68.
Truong, P. K., Nguyen, P. M. T., Lao, T. D., & Le, T. H. A. (2018). A meta-analysis of apolipoprotein B gene mutation in hypercholesterolemia based on previous studies. In International Conference on the Development of Biomedical Enginering in Vietnam (pp. 611-615). Singapore: Springer.
Turgeon, R. D., Barry, A. R., & Pearson, G. J. (2016). Familial hypercholesterolemia: Review of diagnosis, screening, and treatment. Canadian Family Physician, 62(1), 32-37.
Verma, N. (2016). Introduction to hyperlipidemia and its treatment: A review. International Journal of Current Pharmaceutical Research, 9(1), 6-14.
World Health Organization (WHO). (n.d.). Raised cholesterol. Truy cập ngày 10/05/2021 tại https://www.who.int/data/gho/indicator-metadata-registry/imr-details/3236
Youngblom, E., Pariani, M., & Knowles, J. W. (2016). Familial hypercholesterolemia. Seattle, Washington D.C.: University of Washington.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.