PARK16 rs708730 Polymorphism Decreases Parkinson’s Disease Risk in European Ancestry Population: A Meta-analysis
Source: By:Zhijie Han, Baochu Wei, Chenghong Zhang, Hongtian Zhu, Lei Tang, Ruili Lin, Dian He, Yang ZHANG, Pingrong Yang, Junquan He, Pingshun Song
DOI: https://doi.org/10.30564/jgm.v1i2.798
Abstract:Parkinson’s disease (PD) is a complex fatal chronic neurodegenerative disease most common in elderly people. The early genome-wide association studies (GWAS) found that the minor allele variant of PARK16 rs708730 polymorphism is a significant protective factor for PD in Caucasian populations. However, these results cannot be repeated by the following studies in Caucasian populations and other populations. We considered that the inconsistency of the findings may be caused by the small-scale samples or the heterogeneity among different populations. Therefore, in this study, we synthesized the previous related GWAS studies through three authoritative sources, and used the large-scale samples (10,645 PD cases and 30,499 controls) to reevaluate the association between rs708730 polymorphism and PD. The results showed that there is no association between them in Asian ancestry population. While, in European ancestry population, we found that the minor allele variant (G) of rs708730 polymorphism is significantly associated with a decreased risk of PD. Collectively, our findings further verified the association of rs708730 with PD and show its genetic heterogeneity among different populations, which can help to develop a better understanding of the PD’s pathogenesis.
References:1. Kalia LV, Lang AE (2015) Parkinson's disease. Lancet 386 (9996):896-912. DOI:https://doi.org/10.1016/S0140-6736(14)61393-3 2. de Lau LM, Breteler MM (2006) Epidemiology of Parkinson's disease. The Lancet Neurology 5 (6):525-535. DOI:https://doi.org/10.1016/S1474-4422(06)70471-9 3. Pringsheim T, Jette N, Frolkis A, Steeves TD (2014) The prevalence of Parkinson's disease: a systematic review and meta-analysis. Movement disorders : official journal of the Movement Disorder Society 29 (13):1583-1590. DOI:https://doi.org/10.1002/mds.25945 4. Braak H, Del Tredici K, Rub U, de Vos RA, Jansen Steur EN, Braak E (2003) Staging of brain pathology related to sporadic Parkinson's disease. Neurobiology of aging 24 (2):197-211 5. Lenka A, Padmakumar C, Pal PK (2017) Treatment of Older Parkinson's Disease. International review of neurobiology 132:381-405. DOI:https://doi.org/10.1016/bs.irn.2017.01.005 6. Dorsey ER, Constantinescu R, Thompson JP, Biglan KM, Holloway RG, Kieburtz K, Marshall FJ, Ravina BM, Schifitto G, Siderowf A, Tanner CM (2007) Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030. Neurology 68 (5):384-386. DOI:https://doi.org/10.1212/01.wnl.0000247740.47667.03 7. Tan EK, Kwok HH, Tan LC, Zhao WT, Prakash KM, Au WL, Pavanni R, Ng YY, Satake W, Zhao Y, Toda T, Liu JJ (2010) Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus. Neurology 75 (6):508-512. DOI:https://doi.org/10.1212/WNL.0b013e3181eccfcd 8. Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisan-Ruiz C (2010) Genetic variability at the PARK16 locus. European journal of human genetics : EJHG 18 (12):1356-1359. DOI:https://doi.org/10.1038/ejhg.2010.125 9. Pihlstrom L, Rengmark A, Bjornara KA, Dizdar N, Fardell C, Forsgren L, Holmberg B, Larsen JP, Linder J, Nissbrandt H, Tysnes OB, Dietrichs E, Toft M (2015) Fine mapping and resequencing of the PARK16 locus in Parkinson's disease. Journal of human genetics 60 (7):357-362. DOI:https://doi.org/10.1038/jhg.2015.34 10. Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Kruger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nature genetics 41 (12):1308-1312. DOI:https://doi.org/10.1038/ng.487 11. Hamza TH, Zabetian CP, Tenesa A, Laederach A, Montimurro J, Yearout D, Kay DM, Doheny KF, Paschall J, Pugh E, Kusel VI, Collura R, Roberts J, Griffith A, Samii A, Scott WK, Nutt J, Factor SA, Payami H (2010) Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nature genetics 42 (9):781-785. DOI:https://doi.org/10.1038/ng.642 12. Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW, Doheny KF, Gusella JF, Nichols WC, Foroud T, Myers RH, Psg P, GenePd Investigators C, Molecular Genetic L (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Human genetics 124 (6):593-605. DOI:https://doi.org/10.1007/s00439-008-0582-9 13. Yan YP, Mo XY, Tian J, Zhao GH, Yin XZ, Jin FY, Zhang BR (2011) An association between the PARK16 locus and Parkinson's disease in a cohort from eastern China. Parkinsonism & related disorders 17 (10):737-739. DOI:https://doi.org/10.1016/j.parkreldis.2011.07.012 14. Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T (2009) Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nature genetics 41 (12):1303-1307. DOI:https://doi.org/10.1038/ng.485 15. Chung SJ, Jung Y, Hong M, Kim MJ, You S, Kim YJ, Kim J, Song K (2013) Alzheimer's disease and Parkinson's disease genome-wide association study top hits and risk of Parkinson's disease in Korean population. Neurobiology of aging 34 (11):2695 e2691-2697. DOI:https://doi.org/10.1016/j.neurobiolaging.2013.05.022 16. Chen G, Fu X, Wang G, Liu G, Bai X (2015) Genetic Variant rs10757278 on Chromosome 9p21 Contributes to Myocardial Infarction Susceptibility. International journal of molecular sciences 16 (5):11678-11688. DOI:https://doi.org/10.3390/ijms160511678 17. Li Y, Song D, Jiang Y, Wang J, Feng R, Zhang L, Wang G, Chen Z, Wang R, Jiang Q, Liu G (2016) CR1 rs3818361 Polymorphism Contributes to Alzheimer's Disease Susceptibility in Chinese Population. Molecular neurobiology 53 (6):4054-4059. DOI:https://doi.org/10.1007/s12035-015-9343-7 18. He D, Ma L, Feng R, Zhang L, Jiang Y, Zhang Y, Liu G (2015) Analyzing large-scale samples highlights significant association between rs10411210 polymorphism and colorectal cancer. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 74:164-168. DOI:https://doi.org/10.1016/j.biopha.2015.08.023 19. Yang Y, Wang W, Zhang L, Zhang S, Liu G, Yu Y, Liao M (2016) Association of single nucleotide polymorphism rs6983267 with the risk of prostate cancer. Oncotarget 7 (18):25528-25534. DOI:https://doi.org/10.18632/oncotarget.8186 20. Liu G, Xu Y, Jiang Y, Zhang L, Feng R, Jiang Q (2017) PICALM rs3851179 Variant Confers Susceptibility to Alzheimer's Disease in Chinese Population. Molecular neurobiology 54 (5):3131-3136. DOI:https://doi.org/10.1007/s12035-016-9886-2 21. Han P, Liu G, Lu X, Cao M, Yan Y, Zou J, Li X, Wang G (2016) CDH1 rs9929218 variant at 16q22.1 contributes to colorectal cancer susceptibility. Oncotarget 7 (30):47278-47286. DOI:https://doi.org/10.18632/oncotarget.9758 22. Yang Y, Wang W, Liu G, Yu Y, Liao M (2016) Association of single nucleotide polymorphism rs3803662 with the risk of breast cancer. Scientific reports 6:29008. DOI:https://doi.org/10.1038/srep29008 23. Hu Y, Zheng L, Cheng L, Zhang Y, Bai W, Zhou W, Wang T, Han Z, Zong J, Jin S, Zhang J, Liu G, Jiang Q (2017) GAB2 rs2373115 variant contributes to Alzheimer's disease risk specifically in European population. Journal of the neurological sciences 375:18-22. DOI:https://doi.org/10.1016/j.jns.2017.01.030 24. Liu G, Sun JY, Xu M, Yang XY, Sun BL (2017) SORL1 Variants Show Different Association with Early-Onset and Late-Onset Alzheimer's Disease Risk. Journal of Alzheimer's disease : JAD 58 (4):1121-1128. DOI:https://doi.org/10.3233/JAD-170005 25. Liu G, Li F, Zhang S, Jiang Y, Ma G, Shang H, Liu J, Feng R, Zhang L, Liao M, Zhao B, Li K (2014) Analyzing large-scale samples confirms the association between the ABCA7 rs3764650 polymorphism and Alzheimer's disease susceptibility. Molecular neurobiology 50 (3):757-764. DOI:https://doi.org/10.1007/s12035-014-8670-4 26. Liu G, Wang H, Liu J, Li J, Li H, Ma G, Jiang Y, Chen Z, Zhao B, Li K (2014) The CLU gene rs11136000 variant is significantly associated with Alzheimer's disease in Caucasian and Asian populations. Neuromolecular medicine 16 (1):52-60. DOI:https://doi.org/10.1007/s12017-013-8250-1 27. Han Z, Jiang Q, Zhang T, Wu X, Ma R, Wang J, Bai Y, Wang R, Tan R, Wang Y (2015) Analyzing large-scale samples confirms the association between the rs1051730 polymorphism and lung cancer susceptibility. Scientific reports 5:15642. DOI:https://doi.org/10.1038/srep15642 28. Liao M, Wang G, Quan B, Qi X, Yu Z, Feng R, Zhang L, Jiang Y, Zhang Y, Liu G (2015) Analyzing large-scale samples confirms the association between rs16892766 polymorphism and colorectal cancer susceptibility. Scientific reports 5:7957. DOI:https://doi.org/10.1038/srep07957 29. Han Z, Qu J, Zhao J, Zou X (2018) Analyzing 74,248 Samples Confirms the Association Between CLU rs11136000 Polymorphism and Alzheimer's Disease in Caucasian But Not Chinese population. Scientific reports 8 (1):11062. DOI:https://doi.org/10.1038/s41598-018-29450-2 30. Demets DL (1987) Methods for combining randomized clinical trials: strengths and limitations. Statistics in medicine 6 (3):341-350