Document Type : Scientific Reports
Authors
- Nazanin Mardokh Rohani 1
- Mohammad Khalaj-Kondari 1
- Majid Khodayi-Shahrak 1
- Mahnaz Talebi 2
- Mohammad Ali Hoseinpur Feizi 1
1 Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran
2 Neurosciences Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
Abstract
Recent genome-wide association studies have introduced several genetic variants which contribute to the late-onset Alzheimer's disease (LOAD). Polymorphisms of CHAT, TOMM40, and SORL1 genes have been reported to be associated with the LOAD phenotype. This study was endeavored to evaluate the association of the CHAT rs3810950, TOMM40 rs1160985 and SORL1 rs11218304 polymorphisms with the LOAD in the Turkish-speaking Azeri population of northwest Iran. In a case-control study, we included 174 cases: 88 cases with LOAD diagnosis and 86 healthy individuals. Peripheral blood samples were collected and the genomic DNA of all participants were extracted. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We did not observe any significant association between the CHAT rs3810950 and SORL1 rs11218304 alleles with the LOAD. However, both the TOMM40 rs1160985 minor allele T and TT genotype showed significant negative associations with the LOAD. Hence, the TOMM40 rs1160985 polymorphism could be considered as a protective genetic factor against the LOAD in the Turkish-speaking Azeri population of northwest Iran.
Keywords
Alzheimer's Association. (2019) Alzheimer's disease facts and figures. Alzheimer's & Dementia 15:321-387.
Belmonte Juan Carlos I., Callaway Edward M., Caddick S. J., Churchland P., Feng G., Homanics Gregg E., Lee K.-F., Leopold David A., Miller Cory T., Mitchell Jude F., Mitalipov S., Moutri Alysson R., Movshon J. A., Okano H., Reynolds John H., Ringach D. L., Sejnowski Terrence J., Silva Afonso C., Strick Peter L., Wu J. and Zhang F. (2015) Brains, Genes, and Primates. Neuron 86:617-631.
Bertram L., Lill C. and Tanzi R. (2010) The Genetics of Alzheimer Disease: Back to the Future. Neuron 68:270-281.
Brookmeyer R., Abdalla N., Kawas C. H. and Corrada M. M. (2018) Forecasting the prevalence of preclinical and clinical Alzheimer's disease in the United States. Alzheimer's & Dementia 14:121-129.
Campion D., Charbonnier C. and Nicolas G. (2019) SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. Acta Neuropathologica 138:173-186.
Cook L., Ho L., Wang L., Terrenoire E., Brayne C., Grimley Evans J., Xuereb J., Cairns N., Turic D., Hollingworth P., Moore P., Jehu L., Archer N., Walter S., Foy C., Edmondson A., Powell J., Lovestone S., Williams J. and Rubinsztein D. (2005) Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 132B:5-8.
Cruz-Sanabria F., Bonilla-Vargas K., Estrada K., Mancera O., Vega E., Guerrero E., Ortega-Rojas J., Mahecha Maria F., Romero A., Montañes P., Celeita V., Arboleda H. and Pardo R. (2018) Analisis de desempeños cognitivos y polimorfismos en SORL, PVRL2, CR1, TOMM40, APOE, PICALM, GWAS_14q, CLU y BIN1 en pacientes con trastorno neurocognitivo leve y en sujetos cognitivamente sanos. Neurologia.
Dubois B., Feldman H., Jacova C., DeKosky S., Barberger-Gateau P., Cummings J., Delacourte A., Galasko D., Gauthier S., Jicha G., Meguro K., O'Brien J., Pasquier F., Robert P., Rossor M., Salloway S., Stern Y., Visser P. and Scheltens P. (2007) Research criteria for the diagnosis of Alzheimer's disease: Revising the NINCDS-ADRDA criteria. Lancet neurology 6:734-746.
Felsky D., Szeszko P., Yu L., Honer W. G., De Jager P. L., Schneider J. A., Malhotra A. K., Lencz T., Ikuta T., Pipitone J., Chakravarty M. M., Lobaugh N. J., Mulsant B. H., Pollock B. G., Kennedy J. L., Bennett D. A. and Voineskos A. N. (2014) The SORL1 gene and convergent neural risk for Alzheimer’s disease across the human lifespan. Molecular Psychiatry 19:1125-1132.
Fotuhi S. N., Khalaj-Kondori M., Hoseinpour Feizi M. A. and Talebi M. (2019) Long Non-coding RNA BACE1-AS May Serve as an Alzheimer’s Disease Blood-Based Biomarker. Journal of Molecular Neuroscience 69:351-359.
Gao L., Zhang Y., Deng J., Yu W. and Yu Y. 2016. Polymorphisms of CHAT but not TFAM or VR22 are Associated with Alzheimer Disease Risk. In Medical science monitor : international medical journal of experimental and clinical research. Vol. 22. 1924-1935.
Gatz M., Reynolds C. A., Fratiglioni L., Johansson B., Mortimer J. A., Berg S., Fiske A. and Pedersen N. L. (2006) Role of Genes and Environments for Explaining Alzheimer Disease. Archives of General Psychiatry 63:168-174.
Grupe A., Abraham R., Li Y., Rowland C., Hollingworth P., Morgan A., Jehu L., Segurado R.,Stone D., Schadt E., Karnoub M., Nowotny P., Tacey K., Catanese J., Sninsky J., Brayne C., Rubinsztein D., Gill M., Lawlor B., Lovestone S., Holmans P., O'Donovan M., Morris J. C., Thal L., Goate A., Owen M. J. and Williams J. (2007) Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. Human Molecular Genetics 16:865-873.
Honea R. A., Vidoni E. D., Swerdlow R. H., Burns J. M. and for the Alzheimer's Disease Neuroimaging I. (2012) Maternal Family History is Associated with Alzheimer's Disease Biomarkers. Journal of Alzheimer's Disease 31:659-668.
Jiao B., Liu X., Zhou L., Wang M. H., Zhou Y., Xiao T., Zhang W., Sun R., Waye M. M. Y., Tang B. and Shen L. (2015) Polygenic Analysis of Late-Onset Alzheimer’s Disease from Mainland China. PLOS ONE 10:e0144898.
Lee J., Jo S., Park J., Lee S., Jo I., Kim D., Huh Y., Youn J., Jhoo J., Park K., Park S., Lee D., Woo J. and Kim K. W. (2011) Choline Acetyltransferase 2384G > A Polymorphism and the Risk of Alzheimer Disease. Alzheimer disease and associated disorders 26:81-87.
Liu Y., Chen Q., Liu X., Dou M., Li S., Zhou J., Liu H., Wu Y. and Huang Z. (2016) Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer’s Disease: A Meta-Analysis. BioMed Research International 2016:9418163.
Louwersheimer E., Ramirez A., Cruchaga C., Becker T., Kornhuber J., Peters O., Heilmann S., Wiltfang J., Jessen F., Visser P. J., Scheltens P., Pijnenburg Y. A. L., Teunissen C. E., Barkhof F., van Swieten J. C., Holstege H. and Van der Flier W. M. (2015) The influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease. Neurobiology of Aging 36:1605.e1613-1605.e1620.
Lyall D. M., Harris S. E., Bastin M. E., Muñoz Maniega S., Murray C., Lutz M. W., Saunders A. M., Roses A. D., Valdes Hernandez M. d. C., Royle N. A., Starr J. M., Porteous D. J., Wardlaw J. M. and Deary I. J. (2014) Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity? Translational Psychiatry 4:e449-e449.
Ma X.-Y., Yu J.-T., Wang W., Wang H.-F., Liu Q.-Y., Zhang W. and Tan L. (2013) Association of TOMM40 Polymorphisms with Late-Onset Alzheimer’s Disease in a Northern Han Chinese Population. NeuroMolecular Medicine 15:279-287.
Miller S. A., Dykes D. D. and Polesky H. F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 16:1215-1215.
Omoumi A., Fok A., Greenwood T., Sadovnick A. D., Feldman H. H. and Hsiung G.-Y. R. (2014) Evaluation of late-onset Alzheimer disease genetic susceptibility risks in a Canadian population. Neurobiology of Aging 35:936.e935-936.e912.
Ortega-Rojas J., Morales L., Guerrero E., Arboleda-Bustos C. E., Mejia A., Forero D., Lopez L., Pardo R., Arboleda G., Yunis J. and Arboleda H. (2016) Association Analysis of Polymorphisms in TOMM40, CR1, PVRL2, SORL1, PICALM, and 14q32.13 Regions in Colombian Alzheimer Disease Patients. Alzheimer disease and associated disorders 30:305-309.
Petschner P., Gonda X., Baksa D., Eszlari N., Trivaks M., Juhasz G. and Bagdy G. (2018) Genes Linking Mitochondrial Function, Cognitive Impairment and Depression are Associated with Endophenotypes Serving Precision Medicine. Neuroscience 370:207-217.
Prendecki M., Florczak-Wyspianska J., Kowalska M., Ilkowski J., Grzelak T., Bialas K., Wiszniewska M., Kozubski W. and Dorszewska J. (2018) Biothiols and oxidative stress markers and polymorphisms of TOMM40 and APOC1 genes in Alzheimer's disease patients. Oncotarget 9.
Reitz C., Cheng R., Rogaeva E., Lee J. H., Tokuhiro S., Zou F., Bettens K., Sleegers K., Tan E. K., Kimura R., Shibata N., Arai H., Kamboh M. I., Prince J. A., Maier W., Riemenschneider M., Owen M., Harold D., Hollingworth P., Cellini E., Sorbi S., Nacmias B., Takeda M., Pericak-Vance M. A., Haines J. L., Younkin S., Williams J., van Broeckhoven C., Farrer L. A., St George-Hyslop P. H. and Mayeux R. (2011) Meta-analysis of the association between variants in SORL1 and Alzheimer disease. Arch Neurol 68:99-106.
Reynolds C. A., Zavala C., Gatz M., Vie L., Johansson B., Malmberg B., Ingelsson E., Prince J. A. and Pedersen N. L. (2013) Sortilin receptor 1 predicts longitudinal cognitive change. Neurobiology of Aging 34:1710.e1711-1710.e1718.
Rogaeva E., Meng Y., Lee J. H., Gu Y., Kawarai T., Zou F., Katayama T., Baldwin C. T., Cheng R., Hasegawa H., Chen F., Shibata N., Lunetta K. L., Pardossi-Piquard R., Bohm C., Wakutani Y.,Cupples L. A., Cuenco K. T., Green R. C., Pinessi L., Rainero I., Sorbi S., Bruni A., Duara R., Friedland R. P., Inzelberg R., Hampe W., Bujo H., Song Y.-Q., Andersen O. M., Willnow T. E., Graff-Radford N., Petersen R. C., Dickson D., Der S. D., Fraser P. E., Schmitt-Ulms G., Younkin S., Mayeux R., Farrer L. A. and St George-Hyslop P. (2007) The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nature Genetics 39:168-177.
Rosenberg R. N., Lambracht-Washington D., Yu G. and Xia W. (2016) Genomics of Alzheimer Disease: A Review. JAMA Neurology 73:867-874.
Roses A., Sundseth S., Saunders A., Gottschalk W., Burns D. and Lutz M. (2016) Understanding the genetics of APOE and TOMM40 and role of mitochondrial structure and function in clinical pharmacology of Alzheimer's disease. Alzheimer's & Dementia 12:687-694.
Roses A. D. (2010) An Inherited Variable Poly-T Repeat Genotype in TOMM40 in Alzheimer Disease. Archives of Neurology 67:536-541.
Shao W., Peng D. and Wang X. (2017) Genetics of Alzheimer’s disease: From pathogenesis to clinical usage. Journal of Clinical Neuroscience 45:1-8.
Takei N., Miyashita A., Tsukie T., Arai H., Asada T., Imagawa M., Shoji M., Higuchi S., Urakami K., Kimura H., Kakita A., Takahashi H., Tsuji S., Kanazawa I., Ihara Y., Odani S. and Kuwano R. (2009) Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics 93:441-448.
Talebi M., Delpak A., Khalaj-kondori M., Sadigh-Eteghad S., Talebi M., Mehdizadeh E. and Majdi A. (2020) ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer’s Disease. Journal of Molecular Neuroscience 70:167-173.
Tanzi R. E. (2012) The Genetics of Alzheimer Disease. Cold Spring Harbor Perspectives in Medicine 2.
Thangnipon W., Puangmalai N., Suwanna N., Soi-ampornkul R., Phonchai R., Kotchabhakdi N., Mukda S., Phermthai T., Julavijitphong S., Tuchinda P. and Nobsathian S. (2016) Potential role of N-benzylcinnamide in inducing neuronal differentiation from human amniotic fluid mesenchymal stem cells. Neuroscience Letters 610:6-12.
Willette A. A., Webb J. L., Lutz M. W., Bendlin B. B., Wennberg A. M., Oh J. M., Roses A., Koscik R. L., Hermann B. P., Dowling N. M., Asthana S. and Johnson S. C. (2017) Family history and TOMM40 ‘523 interactive associations with memory in middle-aged and Alzheimer's disease cohorts. Alzheimer's & Dementia 13:1217-1225.
Yanfang Zhao Y. Z., Lei Zhang, Yanhan Dong, Hongfang Ji, Liang Shen. (2019) The Potential Markers of Circulating microRNAs and long non-coding RNAs in Alzheimer's Disease. Aging and disease 10:1293-1301.
Yavarpour-Bali H., Ghasemi-Kasman M. and Shojaei A. (2020) Direct reprogramming of terminally differentiated cells into neurons: A novel and promising strategy for Alzheimer's disease treatment. Progress in Neuro-Psychopharmacology and Biological Psychiatry 98:109820.
Yu C.-E., Seltman H., Peskind E. R., Galloway N., Zhou P. X., Rosenthal E., Wijsman E. M., Tsuang D. W., Devlin B. and Schellenberg G. D. (2007) Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: Patterns of linkage disequilibrium and disease/marker association. Genomics 89:655-665.
Yu X., Li Y., Wen H., Zhang Y. and Tian X. (2015) Intensity-dependent effects of repetitive anodal transcranial direct current stimulation on learning and memory in a rat model of Alzheimer’s disease. Neurobiology of Learning and Memory 123:168-178.
Yuan H., Xia Q., Ling K., Wang X., Wang X. and Du X. (2016) Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer’s Disease Risk: A Meta-Analysis. PLOS ONE 11:e0159022.
Zeitlow K., Charlambous L., Ng I., Gagrani S., Mihovilovic M., Luo S., Rock D. L., Saunders A., Roses A. D. and Gottschalk W. K. (2017) The biological foundation of the genetic association of TOMM40 with late-onset Alzheimer's disease. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1863:2973-2986.
)
Send comment about this article