房颤相关基因在不同人群中的研究进展
Progress in AF-Related Genes in Different Populations
DOI: 10.12677/ACM.2022.122209, PDF,    科研立项经费支持
作者: 安仁芳：青海大学研究生院，青海 西宁；苏晓灵*：青海省人民医院心血管内科，青海 西宁
关键词: 心房颤动；基因；不同人群；遗传差异；房颤敏感性；Atrial Fibrillation； Genes； Different Populations； Genetic Differences； Atrial Fibrillation Sensitivity
摘要: 心房颤动(Atrial fibrillation, AF)作为临床上最常见的心律失常性疾病，其治疗方式多种多样，但发病机制目前仍未完全明确阐明。近年来学者们发现遗传因素在房颤的发生发展中也发挥着重要的作用，越来越多的房颤相关基因被发现。研究显示不同人群中房颤相关基因对房颤风险的影响尚不完全一致。现对房颤相关基因在不同人群中的研究做一综述。
Abstract: Atrial fibrillation (AF) as the most common arrhythmia disease in clinic, is treated in a variety of ways, but the pathogenesis is still not fully clarified. In recent years, scholars have found that genetic factors also play an important role in the development of AF, and more and more atrial fibrillation-related genes have been found. Studies show that the impact of AF-related genes on AF risk is not entirely consistent across different populations. There is a review of genes related to AF in different populations.
文章引用：安仁芳, 苏晓灵. 房颤相关基因在不同人群中的研究进展[J]. 临床医学进展, 2022, 12(2): 1439-1445. https://doi.org/10.12677/ACM.2022.122209

参考文献

[1] Hayashi, K., Tada, H. and Yamagishi, M. (2017) The Genetics of Atrial Fibrillation. Current Opinion in Cardiology, 32, 10-16. [Google Scholar] [CrossRef] 
[2] Huang, H. and Darbar, D. (2017) Genetic Heterogeneity of Atrial Fibrillation Susceptibility Loci across Racial or Ethnic Groups. European Heart Journal, 38, 2595-2598. [Google Scholar] [CrossRef] [PubMed]
[3] Low, S.-K., Takahashi, A., Ebana, Y., Ozaki, K., Christophersen, I.E., Ellinor, P.T., et al. (2017) Identification of Six New Genetic Loci Associated with Atrial Fibrillation in the Japanese Population. Nature Genetics, 49, 953-958. [Google Scholar] [CrossRef] [PubMed]
[4] Rodriguez, C.-J., Soliman, E.-Z., Alonso, A., Swett, K., Okin, P.M., Goff Jr., D.C., et al. (2015) Atrial Fibrillation Incidence and Risk Factors in Relation to Race-Ethnicity and the Population Attributable Fraction of Atrial Fibrillation Risk Factors: The Multi-Ethnic Study of Atherosclerosis. Annals of Epidemiology, 25, 71-76.e1. [Google Scholar] [CrossRef] [PubMed]
[5] Nattel, S. (2002) New Ideas about Atrial Fibrillation 50 Years on. Nature, 415, 219-226. [Google Scholar] [CrossRef] [PubMed]
[6] Chen, Y.-H., Xu, S.-J., Bendahhou, S., Wang, X.L., Wang, Y., Xu, W.Y., et al. (2003) KCNQ1 Gain-of-Function Mutation in Familial Atrial Fibrillation. Science, 299, 251-254. [Google Scholar] [CrossRef] [PubMed]
[7] Yang, Y., Xia, M., Jin, Q., Bendahhou, S., Shi, J., Chen, Y., et al. (2004) Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation. American Journal of Human Genetics, 75, 899-905. [Google Scholar] [CrossRef] [PubMed]
[8] Xia, M., Jin, Q., Bendahhou, S., He, Y., Larroque, M.M., Chen, Y., et al. (2005) A Kir2.1 Gain-of-Function Mutation Underlies Familial Atrial Fibrillation. Biochemical and Biophysical Research Communications, 332, 1012-1019. [Google Scholar] [CrossRef] [PubMed]
[9] Jiang, Y.-F., Chen, M., Zhang, N.-N., Yang, H.J., Xu, L.B., Rui, Q., et al. (2017) Association between KCNE1 G38S Gene Polymorphism and Risk of Atrial Fibrillation: A PRISMA-Compliant Meta-Analysis. Medicine, 96, e7253. [Google Scholar] [CrossRef] 
[10] Han, H.-G., Wang, H.-S., Yin, Z., Jiang, H., Fang, M. and Han, J. (2014) KCNE1 112G>a Polymorphism and Atrial Fibrillation Risk: A Meta-Analysis. Genetics and Molecular Research, 13, 8367-8377. [Google Scholar] [CrossRef] 
[11] 毛婷. 新疆维吾尔族、汉族心房颤动与KCNE1 G38S及KCNE4 E145D的相关性研究[D]: [硕士学位论文]. 乌鲁木齐: 新疆医科大学, 2012.
[12] Liu, X., Li, Y., Zhang, H., Ji, Y., Zhao, Z. and Wang, C. (2019) The Research of Ion Channel-Related Gene Polymorphisms with Atrial Fibrillation in the Chinese Han Population. Molecular Genetics & Genomic Medicine, 7, Article No. e835. [Google Scholar] [CrossRef] [PubMed]
[13] Mints, Y., Zipunnikov, V., Khurram, I., Calkins, H. and Nazarian, S. (2014) Single Nucleotide Polymorphisms in Proximity to K-Channel Genes Are Associated with Decreased Longitudinal QTc Variance. Annals of Noninvasive Electrocardiology, 19, 63-69. [Google Scholar] [CrossRef] [PubMed]
[14] Wilde, A.A.M. and Amin, A.-S. (2018) Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy. JACC: Clinical Electrophysiology, 4, 569-579. [Google Scholar] [CrossRef] [PubMed]
[15] Li, Q., Huang, H., Liu, G., Lam, K., Rutberg, J., Green, M.S., et al. (2009) Gain-of-Function Mutation of Nav1.5 in Atrial Fibrillation Enhances Cellular Excitability and Lowers the Threshold for Action Potential Firing. Biochemical and Biophysical Research Communications, 380, 132-137. [Google Scholar] [CrossRef] [PubMed]
[16] Li, W., Yin, L., Shen, C., Hu, K., Ge, J. and Sun, A. (2018) SCN5A Variants: Association with Cardiac Disorders. Front Physiol, 9, Article No. 1372. [Google Scholar] [CrossRef] [PubMed]
[17] 谢旭东, 王兴祥, 陈君柱, 陶明, 尚云鹏, 郭晓刚, 等. 心脏钠离子通道α亚单位基因单核苷酸多态性及其在汉族人群中的分布[J]. 生理学报, 2004, 56(1): 36-40.
[18] 叶尔肯别克·沙德克. SCN5A基因H558R位点多态性与新疆地区维吾尔族, 汉族心房颤动患者的相关性研究[D]: [硕士学位论文]. 乌鲁木齐: 新疆医科大学, 2017.
[19] Macri, V., Brody, J.-A., Arking, D.-E., Hucker, W.J., Yin, X., Lin, H., et al. (2018) Common Coding Variants in SCN10A Are Associated with the Nav1.8 Late Current and Cardiac Conduction. Circulation: Genomic and Precision Medicine, 11, Article No. e001663.
[20] Fang, Z., Jiang, Y., Wang, Y., Lin, Y., Liu, Y., Zhao, L., et al. (2016) The rs6771157 C/G Polymorphism in SCN10A Is Associated with the Risk of Atrial Fibrillation in a Chinese Han Population. Scientific Reports, 6, Article ID: 35212. [Google Scholar] [CrossRef] [PubMed]
[21] Yan, J., Thomson, J.-K., Zhao, W., Wu, X., Gao, X., DeMarco, D., et al. (2018) The Stress Kinase JNK Regulates Gap Junction Cx43 Gene Expression and Promotes Atrial Fibrillation in the Aged Heart. Journal of Molecular and Cellular Cardiology, 114, 105-115. [Google Scholar] [CrossRef] [PubMed]
[22] Chen, X., Li, G., Zhang, J., Huang, X., Ye, Z. and Zhao, Y. (2020) Association between GJA1 rs13216675 T>C Polymorphism and Risk of Atrial Fibrillation: A Systematic Review and Meta-Analysis. Frontiers in Cardiovascular Medicine, 7, Article ID: 585268. [Google Scholar] [CrossRef] [PubMed]
[23] Bagwe, S., Berenfeld, O., Vaidya, D., Morley, G.E. and Jalife, J. (2005) Altered Right Atrial Excitation and Propagation in Connexin40 Knockout Mice. Circulation Research, 112, 2245-2253. [Google Scholar] [CrossRef] 
[24] Feng, Y., Sun, J., Wang, L. and Hou, X.L. (2015) A Study of the Association between the Connexin 40 rs35594137 Polymorphism and Atrial Fibrillation in Xinjiang Chinese Han and Uygur Populations. Genetics and Molecular Research, 14, 15705-15712. [Google Scholar] [CrossRef] 
[25] Hailati, J., Yang, Y.-C., Zhang, L., He, P.Y., Baikeyi, M., Muhuyati, W., et al. (2016) Association between -44G/A and +71A/G Polymorphisms in the Connexin 40 Gene and Atrial Fibrillation in Uyghur and Han Populations in Xinjiang, China. Genetics and Molecular Research, 15, gmr15048628. [Google Scholar] [CrossRef] [PubMed]
[26] Postma, A.-V., van de Meerakker, J.-B., Mathijssen, I.-B., Barnett, P., Christoffels, V.M., Ilgun, A., et al. (2008) A Gain-of-Function TBX5 Mutation Is Associated with Atypical Holt-Oram Syndrome and Paroxysmal Atrial Fibrillation. Circulation Research, 102, 1433-1442. [Google Scholar] [CrossRef] 
[27] Ma, J.-F., Yang, F., Mahida, S.-N., Zhao, L., Chen, X., Zhang, M.L., et al. (2016) TBX5 Mutations Contribute to Early-Onset Atrial Fibrillation in Chinese and Caucasians. Cardiovascular Research, 109, 442-450. [Google Scholar] [CrossRef] [PubMed]
[28] Wang, P., Qin, W., Wang, P., Huang, Y., Liu, Y., Zhang, R., et al. (2018) Genomic Variants in NEURL, GJA1 and CUX2 Significantly Increase Genetic Susceptibility to Atrial Fibrillation. Scientific Reports, 8, Article No. 3297. [Google Scholar] [CrossRef] [PubMed]

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