ABO血型基因多态性与脑血管病易感性的相关性研究
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摘要
目的探索ABO血型基因单核苷酸多态性与脑血管病易感性的相关性。方法纳入2016年10月至2017年12月在景德镇市第一人民医院神经内科住院并确诊为脑出血或脑梗死的患者,并从同时期至体检中心进行体检的健康人群中选择对照组,无菌条件下抽取外周静脉血检测ABO血型基因rs643434、rs505922、rs651007以及rs8176743四个位点的单核苷酸多态性,分析比较各位点的基因型、等位基因频率的组间分布差异。结果研究共纳入97例脑出血患者、100例脑梗死患者及43例健康对照。除外rs643434,其余三个SNP位点均满足Hardy-Weinberg平衡检验(均P>0.05)。与健康对照组相比,脑出血及脑梗死患者的rs8176743位点基因型频率和等位基因频率均存在统计学差异(均P<0.017)。在隐性模式下,脑出血患者rs505922 CC基因型频率显著低于健康对照组(OR=0.31,95%CI:0.10～0.96,P=0.0421);在显性模式下,脑血管病患者rs8176743 AG+AA基因型频率显著低于健康对照组(OR=0.10,95%CI:0.02～0.41,P=0.0014)。结论 ABO血型基因rs505922位点T等位基因可能是脑出血的易感基因,rs8176743位点G等位基因可能是脑血管病的易感基因。
Objective To evaluate the association of single nucleotide polymorphisms(SNPs) of the ABO genes with susceptibility cerebrovascular disease. Methods Patients admitted to the department of neurology in Jingdezhen First People's Hospital from October 2016 to December 2017 with a diagnosis of cerebral hemorrhage or cerebral infarction were enrolled and the controls were selected from contemporary healthy population of the physical examination center. Peripheral venous blood was drawn under aseptic conditions and genotypes of 4 SNPs of the ABO genes including rs643434, rs505922, rs651007, and rs8176743 were examined. Then the frequencies of genotype, allele and their differentiations were analyzed.Results A total of 97 cerebral hemorrhage patients, 100 cerebral infarction patients, and 43 healthy controls were included. All the SNPs except rs643434 had conformed to Hardy-Weinberg equilibrium(all P>0.05). The rs8176743 of both the cerebral hemorrhage patients and the cerebral infarction patients presented a statistically significant difference in genotypic frequencies when compared with the healthy controls(all P<0.017). In recessive model,the frequency of rs505922 CC genotype of cerebral hemorrhage patients was significantly lower than that of the controls(OR=0.31,95%CI:0.10-0.96,P=0.0421), while in dominant model,the frequency of rs8176743 AG+AA genotype of cerebrovascular disease patients was significantly lower than that of the controls(OR=0.10,95%CI:0.02-0.41,P=0.0014).Conclusion T allele in rs505922 might be associated with significantly increased risk of cerebral hemorrhage, and G allele in rs8176743 might be associated with significantly increased risk of cerebrovascular disease.
Objective To evaluate the association of single nucleotide polymorphisms(SNPs) of the ABO genes with susceptibility cerebrovascular disease. Methods Patients admitted to the department of neurology in Jingdezhen First People's Hospital from October 2016 to December 2017 with a diagnosis of cerebral hemorrhage or cerebral infarction were enrolled and the controls were selected from contemporary healthy population of the physical examination center. Peripheral venous blood was drawn under aseptic conditions and genotypes of 4 SNPs of the ABO genes including rs643434, rs505922, rs651007, and rs8176743 were examined. Then the frequencies of genotype, allele and their differentiations were analyzed.Results A total of 97 cerebral hemorrhage patients, 100 cerebral infarction patients, and 43 healthy controls were included. All the SNPs except rs643434 had conformed to Hardy-Weinberg equilibrium(all P>0.05). The rs8176743 of both the cerebral hemorrhage patients and the cerebral infarction patients presented a statistically significant difference in genotypic frequencies when compared with the healthy controls(all P<0.017). In recessive model,the frequency of rs505922 CC genotype of cerebral hemorrhage patients was significantly lower than that of the controls(OR=0.31,95%CI:0.10-0.96,P=0.0421), while in dominant model,the frequency of rs8176743 AG+AA genotype of cerebrovascular disease patients was significantly lower than that of the controls(OR=0.10,95%CI:0.02-0.41,P=0.0014).Conclusion T allele in rs505922 might be associated with significantly increased risk of cerebral hemorrhage, and G allele in rs8176743 might be associated with significantly increased risk of cerebrovascular disease.
引文
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[11] Bruzelius M,Strawbridge RJ,Tregouet DA,et al.Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism[J].Thromb Res,2014,134(2):426-432.
[12] Hanson E,Karlsson S,Jood K,et al.No evidence for an association between ABO blood group and overall ischemic stroke or any of the major etiologic subtypes[J].Thromb Res,2012,130(3):339-342.
[13] Williams FM,Carter AM,Hysi PG,et al.Ischemic stroke is associated with the ABO locus:the EuroCLOT study[J].Ann Neurol,2013,73(1):16-31.
[14] 中华医学会神经病学分会,中华医学会神经病学分会脑血管病学组.中国脑出血诊治指南(2014)[J].中华神经科杂志,2015,48(6):435-444.
[15] 中华医学会神经病学分会,中华医学会神经病学分会脑血管病学组.中国急性缺血性脑卒中诊治指南2014[J].中华神经科杂志,2015,48(4).
[16] 魏婉,张灏,蒋敏海.ABO血型及基因与缺血性卒中的相关性研究进展[J].中国卒中杂志,2018,(4):384-388.
[17] Ling X,Zheng Y,Tao J,et al.Association study of polymorphisms in the ABO gene with ischemic stroke in the Chinese population[J].BMC Neurol,2016,16(1):146.
[18] Zakai NA,Judd SE,Alexander K,et al.ABO blood type and stroke risk:the REasons for geographic and racial differences in stroke study[J].J Thromb Haemost,2014,12(4):564-570.
[2] Roth GA,Huffman MD,Moran AE,et al.Global and regional patterns in cardiovascular mortality from 1990 to 2013[J].Circulation,2015,132(17):1667-1678.
[3] 崔琮琪,谷鑫,王海东,等.2006-2010年中国居民脑血管病死亡流行病学特征研究[J].疾病监测,2013(12):1007-1011.
[4] Nayak AR,Husain AA,Lande N H,et al.Impact of admission time on treatment and outcome of stroke in patients admitted to tertiary care hospital:A pilot study from central India[J].J Clin Diagn Res,2015,9(6):C1-C7.
[5] Crandall KM,Rost NS,Sheth KN.Prognosis in intracerebral hemorrhage[J].Rev Neurol Dis,2011,8(1-2):23-29.
[6] Boehme AK,Esenwa C,Elkind MS.Stroke risk factors,genetics,and prevention[J].Circ Res,2017,120(3):472-495.
[7] Francis J,Raghunathan S,Khanna P.The role of genetics in stroke[J].Postgrad Med J,2007,83(983):590-595.
[8] Yamamoto F,Clausen H,White T,et al.Molecular genetic basis of the histo-blood group ABO system[J].Nature,1990,345(6272):229-233.
[9] Yamamoto F,McNeill PD,Hakomori S.Genomic organization of human histo-blood group ABO genes[J].Glycobiology,1995,5(1):51-58.
[10] Schunkert H,Konig IR,Kathiresan S,et al.Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease[J].Nat Genet,2011,43(4):333-338.
[11] Bruzelius M,Strawbridge RJ,Tregouet DA,et al.Influence of coronary artery disease-associated genetic variants on risk of venous thromboembolism[J].Thromb Res,2014,134(2):426-432.
[12] Hanson E,Karlsson S,Jood K,et al.No evidence for an association between ABO blood group and overall ischemic stroke or any of the major etiologic subtypes[J].Thromb Res,2012,130(3):339-342.
[13] Williams FM,Carter AM,Hysi PG,et al.Ischemic stroke is associated with the ABO locus:the EuroCLOT study[J].Ann Neurol,2013,73(1):16-31.
[14] 中华医学会神经病学分会,中华医学会神经病学分会脑血管病学组.中国脑出血诊治指南(2014)[J].中华神经科杂志,2015,48(6):435-444.
[15] 中华医学会神经病学分会,中华医学会神经病学分会脑血管病学组.中国急性缺血性脑卒中诊治指南2014[J].中华神经科杂志,2015,48(4).
[16] 魏婉,张灏,蒋敏海.ABO血型及基因与缺血性卒中的相关性研究进展[J].中国卒中杂志,2018,(4):384-388.
[17] Ling X,Zheng Y,Tao J,et al.Association study of polymorphisms in the ABO gene with ischemic stroke in the Chinese population[J].BMC Neurol,2016,16(1):146.
[18] Zakai NA,Judd SE,Alexander K,et al.ABO blood type and stroke risk:the REasons for geographic and racial differences in stroke study[J].J Thromb Haemost,2014,12(4):564-570.
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