|本期目录/Table of Contents|

[1]唐梦,朱明明,罗伟.补体受体1基因多态性与疾病相关性研究进展[J].医学研究与战创伤救治(原医学研究生学报),2020,22(6):632-637.[doi:10.3969/j.issn.1672-271X.2020.06.016]
 TANG Meng,ZHU Ming-ming reviewing,LUO Wei checking.Trend in research of the correlation between complement receptor 1 gene polymorphism and disease[J].JOURNAL OF MEDICALRESEARCH —COMBAT TRAUMA CARE,2020,22(6):632-637.[doi:10.3969/j.issn.1672-271X.2020.06.016]
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补体受体1基因多态性与疾病相关性研究进展()

《医学研究与战创伤救治》(原医学研究生学报)[ISSN:1672-271X/CN:32-1713/R]

卷:
第22卷
期数:
2020年6期
页码:
632-637
栏目:
综述
出版日期:
2020-11-20

文章信息/Info

Title:
Trend in research of the correlation between complement receptor 1 gene polymorphism and disease
作者:
唐梦朱明明罗伟
作者单位:810000西宁,青海大学研究生院(唐梦);810000 西宁,青海大学附属医院血液科(朱明明、罗伟)
Author(s):
TANG Meng ZHU Ming-ming reviewing LUO Wei checking
(1.Qinghai University Graduate School, Xining 810000,Qinghai,China; 2.Department of Hematology, Affiliated Hospital of Qinghai University,Xining 810000,Qinghai,China)
关键词:
补体受体1基因多态性阿尔兹海默病疟疾麻风
Keywords:
complement receptor 1 gene polymorphismAlzheimer′s diseasemalarialeprosy
分类号:
R737.14
DOI:
10.3969/j.issn.1672-271X.2020.06.016
文献标志码:
A
摘要:
补体受体1(CR1)作为补体级联反应的调控因子,其基因多态性被证实参与多种疾病的发生、发展及预后,如阿尔茨海默病(AD)、疟疾、肿瘤、心血管疾病、麻风等,其中与AD的研究居多。CR1基因多态性有3种,在AD中,主要是CR1长度和密度多态性参与AD的发生、发展。在疟疾中,主要是Knops血型抗原的多态性及红细胞CR1密度多态性影响疾病的易感性。而在肿瘤、心血管疾病及麻风中,则均是红细胞CR1密度多态性对疾病的易感性产生影响,并且以上CR1基因多态性还有地域及民族差异。文章主要就CR1的基因多态性及参与不同疾病发生发展进行综述。
Abstract:
Complement receptor 1 is a regulator of the complement cascade, and its genetic polymorphisms have been confirmed to be involved in the occurrence, development and prognosis of many diseases, such as Alzheimer′s disease (AD), malaria, tumors, cardiovascular diseases, leprosy, etc. Most of the researches focus on AD. There are three types of CR1 gene polymorphisms. In Alzheimer′s disease, CR1 length and density polymorphisms are mainly involved in the occurrence and development of AD. In malaria, Knops blood group antigen polymorphism and red blood cell CR1 density polymorphism affect the susceptibility of the disease. In tumors, cardiovascular diseases and leprosy, it is the red blood cell CR1 density polymorphism that affects the susceptibility of the disease. In addition, the above CR1 gene polymorphisms also have regional and ethnic differences. This review summarizes the CR1 gene polymorphisms and their involvement in the occurrence and development of different diseases.

参考文献/References:

[1]Forneris F, Wu J, Xue X, et al.Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode[J]. EMBO J,2016, 35(10):1133-1149.
[2]Mahmoudi R, Feldman S, Kisserli A, et al. Inherited and Acquired Decrease in Complement Receptor 1 (CR1) Density on Red Blood Cells Associated with High Levels of Soluble CR1 in Alzheimers Disease[J]. Int J Mol Sci,2018,19(8):2175.
[3]Liu D, Niu ZX. The structure, genetic polymorphisms, expression and biological functions of complement receptor type 1 (CR1/CD35) [J]. Immunopharmacol Immunotoxicol,2009,31(4):524-535.
[4]Mahmoudi R, Kisserli A, Novella JL, et al. Alzheimers disease is associated with low density of the long CR1 isoform[J]. Neurobiol Aging,2015,36(4):1766.e5-e12.
[5]Lan Y, Wei CD, Chen WC, et al. Association of the single-nucleotide polymorphism and haplotype of the complement receptor 1 gene with malaria[J]. Yonsei Med J,2015,56(2):332-339.
[6]Lucas Sandri T, Adukpo S, Giang DP, et al. Geographical distribution of complement receptor type 1 variants and their associated disease risk[J]. PLoS One, 2017,12(5):e0175973.
[7]Wang X, Sun Y, Li T, et al. Amyloid-β as a Blood Biomarker for Alzheimers Disease: A Review of Recent Literature[J]. J Alzheimers Dis, 2020,73(3):819-832. .
[8]Lambert JC, Heath S, Even G, et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimers disease[J]. Nat Genet,2009,41(10):1094-1099.
[9]Carrasquillo MM, Belbin O, Hunter TA,et al. Replication of CLU, CR1, and PICALM associations with alzheimer disease[J]. Arch Neurol, 2010,67(8):961-964.
[10]Corneveaux JJ,Myers AJ, Allen AN, et al. Association of CR1, CLU and PICALM with Alzheimers disease in a cohort of clinically characterized and neuropathologically vered individuals[J]. Hum Mol Genet,2010, 19(16):3295-3301
[11]Chen LH, Kao PY, Fan YH, et al.Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimers disease in a southern Chinese population[J]. Neurobiol Aging,2012, 33(1): 210.e1-7.
[12]Zhu XC, Yu JT, Jiang T, et al. CR1 in Alzheimers disease[J]. Mol Neurobiol,2015,51(2):753-765.
[13]Dos Santos LR, Pimassoni LHS, Sena GGS, et al.Validating GWAS Variants from Microglial Genes Implicated in Alzheimers Disease[J]. J Mol Neurosci,2017,62(2):215-221.
[14]Johansson JU, Brubaker WD, Javitz H,et al. Peripheral complement interactions with amyloid β peptide in Alzheimers disease: Polymorphisms, structure, and function of complement receptor 1[J]. Alzheimers Dement,2018,14(11):1438-1449.
[15]Sakae N, Heckman MG, Vargas ER, et al. Evaluation of Associations of Alzheimers Disease Risk Variants that Are Highly Expressed in Microglia with Neuropathological Outcome Measures[J]. J Alzheimers Dis,2019,70(3):659-666.
[16]Mkel M, Kaivola K, Valori M,et al. Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+)[J].Neurol Genet,2018,4(1):e211.
[17]McMillan CT, Lee EB, Jefferson-George K, et al. Alzheimers genetic risk is reduced in primary age-related tauopathy: a potential model of resistance?[J].Ann Clin Transl Neurol,2018, 19;5(8):927-934.
[18]Keenan BT, Shulman JM, Chibnik LB, et al. A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline[J]. Hum Mol Genet,2012,21(10):2377-2388.
[19]Varatharajah Y, Ramanan VK, Iyer R, et al.Alzheimers Disease Neuroimaging Initiative. Predicting Short-term MCI-to-AD Progression Using Imaging, CSF,Genetic Factors, Cognitive Resilience, and Demographics[J]. Sci Rep,2019,19;9(1):2235.
[20]Zhu XC, Wang HF, Jiang T, et al.Alzheimers Disease Neuroimaging Initiative. Effect of CR1 Genetic Variants on Cerebrospinal Fluid and Neuroimaging Biomarkers in Healthy, Mild Cognitive Impairment and Alzheimers Disease Cohorts[J]. Mol Neurobiol,2017,54(1):551-562.
[21]Harris SA, Harris EA. Molecular Mechanisms for Herpes Simplex Virus Type 1 Pathogenesis in Alzheimers Disease[J]. Front Aging Neurosci,2018,10:48.
[22]Mahmoudi R, Feldman S, Kisserli A, et al. Inherited and Acquired Decrease in Complement Receptor 1 (CR1) Density on Red Blood Cells Associated with High Levels of Soluble CR1 in Alzheimers Disease[J]. Int J Mol Sci,2018,19(8):2175.
[23]Santos-Rebouas CB, Gonalves AP, Dos Santos JM, et al. rs3851179 Polymorphism at 5′ to the PICALM Gene is Associated with Alzheimer and Parkinson Diseases in Brazilian Population[J]. Neuromolecular Med,2017,19(2-3):293-299.
[24]Gao J, Huang X, Park Y, et al. An exploratory study on CLU, CR1 and PICALM and Parkinson disease[J]. PLoS One,2011,6(8):e24211.
[25]Fang L, Tang BS, Fan K, et al. Alzheimers disease susceptibility genes modify the risk of Parkinson disease and Parkinsons disease-associated cognitive impairment[J]. Neurosci Lett,2018,11;677:55-59.
[26]Prajapati SK, Borlon C, Rovira-Vallbona E, et al.Complement Receptor 1 availability on red blood cell surface modulates Plasmodium vivax invasion of human reticulocytes[J]. Sci Rep,2019,9(1):8943.
[27]Cockburn IA, Mackinnon MJ, ODonnell A, et al.A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria[J]. Proc Natl Acad Sci U S A,2004, 101(1):272-277.
[28]Rout R, Dhangadamajhi G, Mohapatra B.N, et al.High CR1 level and related polymorphic variants are associated with cerebral malaria in eastern-India[J]. Infect Genet Evol,2011,11(1):139-144.
[29]Nagayasu E, Ito M, Akaki M, et al.CR1 density polymorphism on erythrocytes of falciparum malaria patients in Thailand[J]. Am J Trop Med Hyg,2001, 64(1-2):1-5.
[30]Teeranaipong P, Ohashi J, Patarapotikul J, et al.A functional single-nucleotide polymorphism in the CR1 promoter region contributes to protection against cerebral malaria[J]. J Infect Dis,2008,198(12):1880-1891.
[31]Fontes AM, Kashima S, Bonfim-Silva R, et al. Association between Knops blood group polymorphisms and susceptibility to malaria in an endemic area of the Brazilian Amazon[J]. Genet Mol Biol,2011,34(4):539-545.
[32]Tettey R, Ayeh-Kumi P, Tettey P, et al.Severity of malaria in relation to a complement receptor 1 polymorphism: a case-control study[J]. Pathog Glob Health,2015,109(5):247-252.
[33]Opi DH, Swann O, Macharia A, et al.Two complement receptor one alleles have opposing associations with cerebral malaria and interact with α(+)thalassaemia[J]. Elife,2018,7. e31579.
[34]Zhang Q, Lian Z, Zhang W, et al.Association between interleukin-8 gene -251 A/T polymorphism and the risk of coronary artery disease: A meta-analysis[J]. Medicine (Baltimore),2019,98(48):e17866.
[35]Iwanicki T, Balcerzyk A, Niemiec P, et al.The relationship between CYP7A1 polymorphisms,coronary artery disease & serum lipid markers[J]. Biomark Med,2019,13(14):1199-1208.
[36]de Vries MA, Klop B, van der Meulen N, et al.Leucocyte-bound apolipoprotein B in the circulation is inversely associated with the presence of clinical and subclinical atherosclerosis[J]. Eur J Clin Invest,2016,46(8):690-697.
[37]Buraczynska M, Ksiazek P, Wacinski P, et al.Complement receptor 1 gene polymorphism and cardiovascular disease in dialyzed end-stage renal disease patients[J]. Hum Immunol,2010,71(9):878-882.
[38]de Vries MA, Trompet S, Mooijaart SP, et al. Complement receptor 1 gene polymorphisms are associated with cardiovascular risk[J]. Atherosclerosis,2017,257:16-21.
[39]Fitness J, Floyd S, Warndorff DK, et al.Large-scale candidate gene study of leprosy susceptibility in the Karonga district of northern Malawi[J]. Am J Trop Med Hyg,2004,71(3):330-340.
[40]Wang Z, Sun Y, Fu X et al. A large-scale genome-wide association and metaanalysis identified four novel susceptibility loci for leprosy[J]. Nat Commun,2016,7: 13760.
[41]Kretzschmar GC, Oliveira LC, Nisihara RM, et al.Complement receptor 1 (CR1,CD35) association with susceptibility to leprosy[J]. PLoS Negl Trop Dis,2018,9;12(8):e0006705
[42]Zhang R, Liu Q, Li T, et al. Role of the complement system in the tumor microenvironment[J]. Cancer Cell Int,2019,19:300.
[43]Srivastava A, Mittal B. Complement receptor 1 (A3650G RsaI and intron 27 HindIII) polymorphisms and risk of gallbladder cancer in north Indian population[J].Scand J Immunol,2009,70(6):614-620.
[44]胡金川,田亚平,田薇薇.红细胞补体受体1单核苷酸多态性与肝细胞癌发病风险的研究[J].临床肿瘤学杂志,2015,20(6):512-516.
[45]Luo J, Chen S, Wang J, et al.Genetic polymorphisms in complement receptor 1 gene and its association with HBV-related liver disease: A case-control study[J]. Gene,2019,688:107-118.
[46]王佳艳,刘政.肿瘤相关中性粒细胞调控胃癌发展的研究进展[J].医学研究生学报,2020,33(2):210-214.
[47]Zhao L, Zhang Z, Lin J, et al. Complement receptor 1 genetic variants contribute to the susceptibility to gastric cancer in Chinese population[J]. J Cancer,2015,6(6):525-530.
[48]胡增涛,关沧海,赵俞乔,等.FOXD2-AS1在肿瘤中的功能与调控机制的研究进展[J].医学研究生学报,2019,32(11):1207-1211.
[49]Yu X, Rao J, Lin J, et al. Tag SNPs in complement receptor-1 contribute to the susceptibility to non-small cell lung cancer[J]. Mol Cancer,2014,13:56.
[50]Chaszczewska-Markowska M, Kosacka M, Chryplewicz A, et al. ECCR1 and NFKB2 Polymorphisms as Potential Biomarkers of Non-small Cell Lung Cancer in a Polish Population[J]. Anticancer Res,2019,39(6):3269-3272.

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备注/Memo

备注/Memo:
基金项目:青海省卫生计生委一般指导性课题(2018-wjzdx-121);青海省科技厅应用基础研究项目(2019-ZJ-7081)
更新日期/Last Update: 2020-12-01