宁夏地区rs17042171多态性与心房颤动的相关性研究
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摘要
目的探讨染色体4q25区域rs17042171单核苷酸多态性(single nucleotide polymorphism,SNP)与宁夏地区人群心房颤动的相关性。方法采用病例对照研究,收集在宁夏医科大学总医院和宁夏医科大学心脑血管病医院315例住院患者的外周血标本,其中心房颤动(atrial fibrillation,AF)组164例,对照组(non-atrial fibrillation,NAF)151例。应用电离飞行时间质谱(MALDI-TOF-MS)技术检测rs17042171位点基因型,同时收集所有患者一般资料、血常规及生化检测指标等。结果 AF组与NAF组rs17042171位点基因型频率分布AA(17.3%,24.8%)、AC(44.4%,51.7%)、CC(38.3%,23.5%)和等位基因频率分布A(39.5%,50.7%)、C(60.5%,49.3%)差异均有统计学意义(P均<0.05);Logistic回归分析发现携带CC、AC基因型的人群与携带AA基因型的人群相比,更易发生房颤。结论染色体4q25区域SNP位点rs17042171可能与宁夏地区心房颤动的发生存在风险相关性。
Objective To investigate the relationship between single nucleotide polymorphism(SNP) of rs17042171 in chromosome 4 q25 region and atrial fibrillation in Ningxia. Methods A case-control study was conducted to collect 315 peripheral blood samples from hospitalized patients in the General Hospital of Ningxia Medical University and Cardiovascular and Cerebrovascular Hospital of the General Hospital of Ningxia Medical University. The atrial fibrillation(AF)group consisted of 164 patients. And 151 cases with non-atrial fibrillation(NAF)in the NAF group. Specimen genotypes of rs17042171 was detected by ionization time-of-flight mass spectrometry(MALDI-TOF-MS). The general data,blood routine and biochemical detection indexes of all patients were collected. Results The frequency distribution of genotype AA(17.3%,24.8%),AC(44.4%,51.7%),CC(38.3%,23.5%)and allele A(39.5%,50.7%)and C(60.5%,49.3%) of rs17042171 in AF group and NAF group were different(P all <0.05). Logistic regression analysis showed that people with CC and AC genotypes were more prone to atrial fibrillation than those with AA genotype.Conclusion The SNP locus rs17042171 polymorphism in chromosome 4 q25 region may be associated with the risk of atrial fibrillation in Ningxia.
Objective To investigate the relationship between single nucleotide polymorphism(SNP) of rs17042171 in chromosome 4 q25 region and atrial fibrillation in Ningxia. Methods A case-control study was conducted to collect 315 peripheral blood samples from hospitalized patients in the General Hospital of Ningxia Medical University and Cardiovascular and Cerebrovascular Hospital of the General Hospital of Ningxia Medical University. The atrial fibrillation(AF)group consisted of 164 patients. And 151 cases with non-atrial fibrillation(NAF)in the NAF group. Specimen genotypes of rs17042171 was detected by ionization time-of-flight mass spectrometry(MALDI-TOF-MS). The general data,blood routine and biochemical detection indexes of all patients were collected. Results The frequency distribution of genotype AA(17.3%,24.8%),AC(44.4%,51.7%),CC(38.3%,23.5%)and allele A(39.5%,50.7%)and C(60.5%,49.3%) of rs17042171 in AF group and NAF group were different(P all <0.05). Logistic regression analysis showed that people with CC and AC genotypes were more prone to atrial fibrillation than those with AA genotype.Conclusion The SNP locus rs17042171 polymorphism in chromosome 4 q25 region may be associated with the risk of atrial fibrillation in Ningxia.
引文
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[12] Liu X,Wang F,Knight AC,et al. Common variants for atrial fibrillation:results from genome-wide association studies[J]. Hum Genet,2012,131(1):33-39.
[13] Wang J,Zhang DF,Sun YM,et al. A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation[J]. Eur J Med Genet,2014,57(1):25-31.
[14]陆滔滔,唐惠芳. rs2200733多态性与心房颤动的相关性研究[J].中国循环杂志,2016,31(8):825-827.
[15] Kirchhof P,Benussi S,Kotecha D,et al. 2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS[J]. Europace,2016,18(11):1609-1678.
[16]黄从新,张澍,黄德嘉,等.心房颤动:目前的认识和治疗的建议-2018[J].中国心脏起搏与心电生理杂志,2018,32(4):315-368.
[17]王旭,聂亚莉,宁姝威,等.中国中原地区汉族人群染色体4q25上rs17042171与心房颤动有关[J].中南大学学报(医学版),2018, 43(6):594-603.
[2]胡大一,孙艺红.心房颤动的病因和流行病学[J].中国实用内科杂志,2006,26(3):163-164.
[3]李瑛,李芝峰,王亚珠,等. rs2200733和rs251253多态性与心房颤动的关联性研究[J].重庆医科大学学报,2012,37(1):15-20.
[4] Stewart S,Hart CL,Hole DJ,et al. A populationbased study of the long-term risks associated with atrial fibrillation:20-year follow-up of the Renfrew/Paisley study[J]. Am J Med,2002,113(5):359-364.
[5] Benjamin EJ,Rice KM,Arking DE,et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry[J]. Nat Genet,2009,41(8):879-881.
[6] Gudbjartsson DF,Arnar DO,Helgadottir A,et al.Variants conferring risk of atrial fibrillation on chromosome 4q25[J]. Nature,2007,448(7151):353-357.
[7] Sinner MF,Tucker NR,Lunetta KL,et al. Integrating genetic,transcriptional,and functional analyses to identify five novel genes for atrial fibrillation[J]. Circulation,2014,130(5):1225.
[8] Zhao L,Chen XG,Liu Y,et al. Association of rs17042171 with chromosome 4q25 with atrial fibrillation in Chinese Han populations[J]. Anatol J Cardiol,2016,16(3):165-169.
[9] January CT,Wann LS,Alpert JS,et al. 2014 AHA/ACC/HRS Guideline for the management of patients with atrial fibrillation[J]. J Am Coll Cardiol,2014,64(21):1-76.
[10] Douglas YL,Jongbloed MR,Deruiter MC,et al. Normal and abnormal development of pulmonary veins:state of the art and correlation with clinical entities[J]. Int J Cardiol,2011,147(1):13-24.
[11] Wang J,Klysik E,Sood S,et al. Pitx2 prevents susceptibility to atrial arrhythmias by inhibiting leftsided pacemaker specification[J]. Proc Natl Acad Sci USA,2010,107(21):9753-9758.
[12] Liu X,Wang F,Knight AC,et al. Common variants for atrial fibrillation:results from genome-wide association studies[J]. Hum Genet,2012,131(1):33-39.
[13] Wang J,Zhang DF,Sun YM,et al. A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation[J]. Eur J Med Genet,2014,57(1):25-31.
[14]陆滔滔,唐惠芳. rs2200733多态性与心房颤动的相关性研究[J].中国循环杂志,2016,31(8):825-827.
[15] Kirchhof P,Benussi S,Kotecha D,et al. 2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS[J]. Europace,2016,18(11):1609-1678.
[16]黄从新,张澍,黄德嘉,等.心房颤动:目前的认识和治疗的建议-2018[J].中国心脏起搏与心电生理杂志,2018,32(4):315-368.
[17]王旭,聂亚莉,宁姝威,等.中国中原地区汉族人群染色体4q25上rs17042171与心房颤动有关[J].中南大学学报(医学版),2018, 43(6):594-603.
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