2023, Number 4
<< Back Next >>
Rev Med UAS 2023; 13 (4)
Genetic variants associated with Parkinson's disease in Mexican population
Meza-Espinoza JP, De la Cruz-Arias VR, Enríquez-Ramírez N, López-Obregón JC, Leal-Ugarte E, Picos-Cárdenas VJ
Language: Spanish
References: 42
Page: 430-439
PDF size: 394.64 Kb.
ABSTRACT
Parkinson's disease (PD) is a neurodegenerative disorder characterized by bradykinesia, resting tremor, rigidity, postural instability,
and sleep disturbances. It affects more than 6 million people worldwide; it is more common in men and occurs in approximately 3% of
people over the age of 65. In Mexico, the incidence is estimated to be approximately 15 cases per 100,000 inhabitants by 2023. PD
has a multifactorial etiology; factors associated with its development include cranioencephalic trauma, exposure to pesticides and
heavy metals, and various genes. The aim of this research was to know the genes and their variants associated with PD in the Mexican
population, for which a systematic review of articles from case-control studies evaluating this association was performed. Twelve
articles were found that met the selection criteria. A total of 32 variants, located in 17 genes, were analyzed. Of these, 12 variants,
distributed in five genes, showed a significant association with the disease. The genes involved are
LRRK2, MTHFR, NR4A2, SNCA,
and
SYT11, which are also associated with PD in other populations.
REFERENCES
Kouli A, Torsney KM, Kuan W-L. Parkinson’sdisease: Etiology, neuropathology, andpathogenesis (Chapter 1). In: Parkinson’sdisease: Pathogenesis and clinical aspects[Internet]. Eds. Stoker TB, Greenland JC.Brisbane (Australia): Codon Publications; Dec 21, 2018.
Cerri S, Mus L, Blandini F. Parkinson’s diseasein women and men: What’s the difference? JParkinsons Dis 2019;9(3):501-15.
Chaudhuri KR, Schapira AH. Non-motorsymptoms of Parkinson's disease:Dopaminergic pathophysiology andtreatment. Lancet Neurol 2009;8(5):464-74.
Dorsey ER, Sherer T, Okun MS, Bloem BR.The emerging evidence of the Parkinsonpandemic. J Parkinsons Dis 2018;8(s1):S3-S8.
Martínez-Ramírez D, Rodríguez-Violante M,Velázquez-Ávila ES, Cervantes-Arriaga A,González-Cantú A, Corona T, et al. Incidenciay distribución geográfica de la enfermedad deParkinson en México. Salud Publica Mex2020;62(6):873-5.
Navarro-Meza M, Morales-Sánchez EW,Pacheco-Moisés F, Ortiz GG. Hábitosalimentarios y factores sociodemográficos depacientes con enfermedad de Parkinson enzonas rurales. Nutr Hosp 2015;32(6):2783-91.
Smeyne RJ, Noyce AJ, Byrne M, Savica R,Marras C. (2021). Infection and risk ofParkinson’s disease. J Parkinsons Dis2021;11(1):31-43.
Dickson DW. Parkinson’s disease andparkinsonism: Neuropathology. Cold SpringHarb Perspect Med 2012;2(8):a009258.
Hernán MA, Takkouche B, Caamaño-Isorna F,Gestal-Otero JJ. A meta-analysis of coffeedrinking, cigarette smoking, and the risk ofParkinson’s disease. Ann Neurol2002;52(3):276-84.
Chu YT, Tai CH, Lin CH, Wu RM. Updates onthe genetics of Parkinson’s disease: Clinicalimplications and future treatment. Acta NeurolTaiwan 2021;30(3):83-93.
Salas-Leal AC, Sandoval-Carrillo A, Romero-Gutiérrez E, Castellanos-Juárez FX, Méndez-Hernández EM, La Llave-León O, et al.rs3764435 Associated with Parkinson'sdisease in Mexican Mestizos: Case-controlstudy reveals protective effects againstdisease development and cognitiveimpairment. Front Neurol 2019;10:1066.
Romero-Gutiérrez E, Vázquez-Cárdenas P,Moreno-Macías H, Salas-Pacheco J, Tusié-Luna T, Arias-Carrión O. Differences inMTHFR and LRRK2 variant's association withsporadic Parkinson's disease in MexicanMestizos correlated to Native Americanancestry. NPJ Parkinsons Dis 2021;7(1):13.
García S, López-Hernández LB, Suarez-Cuenca JA, Solano-Rojas M, Gallegos-ArreolaMP, Gama-Moreno O, et al. Low prevalence ofmost frequent pathogenic variants of six PARKgenes in sporadic Parkinson's disease. FoliaNeuropathol 2014;52(1):22-9.
Miranda-Morales EG, Sandoval-Carrillo A,Castellanos-Juárez FX, Méndez-HernándezEM, La Llave-León O, Quiñones-Canales G, etal. H1/H2 MAPT haplotype and Parkinson'sdisease in Mexican Mestizo population.Neurosci Lett 2019;690:210-3.
García S, Coral-Vázquez R, Gallegos-ArreolaMP, Montes-Almanza LA, Canto P, García-Martínez FA, et al. Association of thers1801133 variant in the MTHFR gene andsporadic Parkinson's disease. FoliaNeuropathol. 2015;53(1):24-8.
García S, Cano-Martínez LJ, Coral-VázquezRM, Coronel-Pérez A, Gómez-Díaz B, Toledo-Lozano CG, et al. Analysis of the rs13306560functional variant in the promoter region of theMTHFR gene in sporadic Parkinson´s disease.Neuro Endocrinol Lett 2017;38(4):257-60.
Ruiz-Sánchez E, Yescas P, Rodríguez-Violante M, Martínez-Rodríguez N, Díaz-López JN, Ochoa A, et al. Association ofpolymorphisms and reduced expression levelsof the NR4A2 gene with Parkinson's disease ina Mexican population. J Neurol Sci2017;379:58-63.
Martínez HR, González-González H, Cantú-Martínez L, Rangel-Guerra R, Hernández-Castillo CD, Vergara-Saavedra JJ. PARKINcodingpolymorphisms are not associated withParkinson's disease in a population fromnortheastern Mexico. Neurosci Lett2010;468(3):264-6.
García S, Chavira-Hernández G, Gallegos-Arreola MP, Dávila-Maldonado L, GarcíaMartínez F, Montes Almanza LA, et al. Thers3857059 variant of the SNCA gene isassociated with Parkinson's disease inMexican Mestizos. Arq Neuropsiquiatr.
2016;74(6):445-9.20. Dávila-Ortiz de Montellano DJ, Rodríguez-Violante M, Fresán A, Monroy-Jaramillo N,Yescas-Gómez P. Frecuencia depolimorfismos de nucleótido único y haplotiposde alfa-sinucleína asociados con laenfermedad de Parkinson esporádica enpoblación mexicana. Rev Neurol2016;63(8):345-50.
Salas-Leal AC, Salas-Pacheco SM, Gavilán-Ceniceros JAP, Castellanos-Juárez FX,Méndez-Hernández EM, La Llave-León O, etal. α-syn and SNP rs356219 as a potentialbiomarker in blood for Parkinson's disease inMexican Mestizos. Neurosci Lett2021;754:135901.
Sésar A, Cacheiro P, López-López M,Camiña-Tato M, Quintáns B, Monroy-JaramilloN, et al. Synaptotagmin XI in Parkinson'sdisease: New evidence from an associationstudy in Spain and Mexico. J Neurol Sci2016;362:321-5.
Usmani A, Shavarebi F, Hiniker A. The cellbiology of LRRK2 in Parkinson's disease. MolCell Biol 2021;41(5):e00660-20.
Heckman MG, Labbé C, Kolicheski AL, Soto-Beasley AI, Walton RL, Valentino RR, et al.Fine-mapping of the non-coding variationdriving the Caucasian LRRK2 GWAS signal inParkinson’s disease. Parkinsonism RelatDisord 2021;83:22-30.
Fang J, Yi K, Guo M, An X, Qu H, Lin Q, et al.Analysis of LRRK2, SNCA, and ITGA8 Genevariants with sporadic Parkinson’s diseasesusceptibility in Chinese Han population.Parkinsons Dis 2016;2016:3474751.
Frosst P, Blom HJ, Milos R, Goyette P,Sheppard CA, Matthews RG, et al. Acandidate genetic risk factor for vasculardisease: a common mutation inmethylenetetrahydrofolate reductase. NatureGenet 1995;10(1):111-3.
Bonetti F, Brombo G, Zuliani G. Therelationship between hyperhomocysteinemiaand neurodegeneration. Neurodegener DisManag 2016;6(2):133-45.
Liu L, Zhang L, Guo L, Yu Q, Li H, Teng J, etal. MTHFR C677T and A1298Cpolymorphisms may contribute to the risk ofParkinson's disease: A meta-analysis of 19studies. Neurosci Lett 2018;662:339-45.
Kim TE, Seo JS, Yang JW, Kim MW, KausarR, Joe E, et al. Nurr1 represses tyrosinehydroxylase expression via SIRT1 in humanneural stem cells. PloS one 2013;8:e71469.
Le WD, Xu P, Jankovic J, Jiang H, Appel SH,Smith RG, et al. Mutations in NR4A2associated with familial Parkinson disease.Nat Genet 2003;33(1):85-9.
Liu H, Liu H, Li T, Cui J, Fu Y, Ren J, et al.NR4A2 genetic variation and Parkinson’sdisease: Evidence from a systematic reviewand meta-analysis. Neurosci Lett2017;650:25-32.
Siddiqui IK, Pervaiz N, Abbasi AR. TheParkinson disease gene SNCA: Evolutionaryand structural insights with pathologicalimplication. Sci Rep 2016;6:24475.
da Costa CA, Paitel E, Vincent B, Checler F.α-Synuclein lowers p53-dependent apoptoticresponse of neuronal cells abolishment by 6-hydroxydopamine and implication forParkinson′s disease. J Biol Chem2002;277(52):50980-4.
Mata IF, Shi M, Agarwal P, Chung KA,Edwards KL, Factor SA, et al. A SNCA variantassociated with Parkinson’s disease andplasma α-synuclein level. Arch Neurol2010;67(11):1350-6.
Satake W, Nakabayashi Y, Mizuta I, Hirota Y,Ito C, Kubo M, et al. Genome-wide associationstudy identifies common variants at four loci asgenetic risk factors for Parkinson's disease.Nat Genet 2009;41(12):1303-7.
Bi M, Kang S, Du X, Jiao Q, Jiang H.Association between SNCA rs356220polymorphism and Parkinson’s disease: Ameta-analysis. Neurosci Lett2020;717:134703.
Li C, Ou R, Chen Y, Gu X, Wei Q, Cao B, et al.Genetic modifiers of age at onset forParkinson's disease in Asians: A genome-wideassociation study. Mov Disord2021;36(9):2077-84.
Naushad SM, Hussain T, Alrokayan S, KutalaVK. Alpha synuclein (SNCA) rs7684318variant contributes to Parkinson's disease riskby altering transcription factor binding relatedwith Notch and Wnt signaling. Neurosci Lett2021;750:135802.
Cheng F, Zheng W, Liu C, Barbuti PA, Yu-Taeger L, Casadei N, et al. Intronic enhancersof the human SNCA gene predominantlyregulate its expression in brain in vivo. Sci Adv2022;8(47):eabq6324.
Shimojo M, Madara JC, Pankow S, Liu X,Yates JR, Sudhof TC, et al. Synaptotagmin-11mediates a vesicle trafficking pathway that isessential for development and synapticplasticity. Genes Development 2019;33(5-6):365-76.
Wang C, Kang X, Zhou L, Chai Z, Wu Q,Huang R, et al. Synaptotagmin-11 is a criticalmediator of Parkin-linked neurotoxicity andParkinson’s disease-like pathology. NatureCommunications 2018;9(1):81.
Sharma M, Ioannidis JP, Aasly JO, Annesi G,Brice A, Van Broeckhoven C, et al. Largescalereplication and heterogeneity inParkinson disease genetic loci Neurology2012;79(7):659-67.