Association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease in Han Chinese

详细信息    查看全文

• 作者：Ling Wang ; Lan Cheng ; Zhong-Jiao Lu ; Xiao-Yi Sun…
• 关键词：Parkinson’s disease ; RAB7L1/NUCKS1 ; MCCC1 ; STK39 ; SNPs
• 刊名：Journal of Neural Transmission
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：123
• 期：4
• 页码：425-430
• 全文大小：346 KB
• 参考文献：Abe S, Chamnan C, Miyamoto K, Minamino Y, Nouda M (2004) Isolation and identification of 3-methylcrotonyl coenzyme A carboxylase cDNAs and pyruvate carboxylase, and their expression in red seabream (Pagrus major) organs. Mar Biotechnol 6(6):527–540CrossRef PubMed
  Belin AC, Westerlund M (2008) Parkinson’s disease: a genetic perspective. FEBS J 275(7):1377–1383CrossRef PubMed
  Berganzo K, Tijero B, González-Eizaguirre A, Somme J, Lezcano E, Gabilondo I, Fernandez M, Zarranz JJ, Gómez-Esteban JC (2014) Motor and non-motor symptoms of Parkinson’s disease and their impact on quality of life and on different clinical subgroups. Neurologia
  Chang KH, Wu YR, Chen YC, Fung HC, Lee-Chen GJ, Chen CM (2015) STK39, But Not BST1, HLA-DQB1, and SPPL2B Polymorphism, Is Associated With Han-Chinese Parkinson’s Disease in Taiwan. Medicine 94(41):e1690CrossRef PubMed PubMedCentral
  de Lau LML, Breteler MMB (2006) Epidemiology of Parkinson’s disease. Lancet Neurol 5(6):525–535CrossRef PubMed
  Delpire E, Gagnon KB (2008) SPAK and OSR1: STE20 kinases involved in the regulation of ion homoeostasis and volume control in mammalian cells. Biochem J 409(2):321–331CrossRef PubMed
  Fahn S (2003) Description of Parkinson’s disease as a clinical syndrome. Ann NY Acad Sci 991:1–14CrossRef PubMed
  Grunert SC, Stucki M, Morscher RJ, Suormala T, Burer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kolker S, Moslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR (2012) 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis 7:31CrossRef PubMed PubMedCentral
  Hill-Burns EM, Wissemann WT, Hamza TH, Factor SA, Zabetian CP, Payami H (2014) Identification of a novel Parkinson’s disease locus via stratified genome-wide association study. BMC Genom 15(1):118CrossRef
  Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson’s disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 55(3):181–184CrossRef PubMed PubMedCentral
  International Parkinson’s Disease Genomics C, Wellcome Trust Case Control C (2011) A two-stage meta-analysis identifies several new loci for Parkinson’s disease. PLoS Genet 7(6):e1002142CrossRef
  Johnston AM, Naselli G, Gonez LJ, Martin RM, Harrison LC, DeAizpurua HJ (2000) SPAK, a STE20/SPS1-related kinase that activates the p38 pathway. Oncogene 19(37):4290–4297CrossRef PubMed
  Labbé C, Ross OA (2014) Association studies of sporadic Parkinson’s disease in the genomic era. Curr Genomics 15(1):2CrossRef PubMed PubMedCentral
  Lesage S, Brice A (2009) Parkinson’s disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 18(R1):R48–R59CrossRef PubMed
  MacLeod DA, Rhinn H, Kuwahara T, Zolin A, Di Paolo G, McCabe BD, Marder KS, Honig LS, Clark LN, Small SA, Abeliovich A (2013) RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson’s disease risk. Neuron 77(3):425–439CrossRef PubMed PubMedCentral
  Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R, International Parkinson’s Disease Genomics C, Parkinson’s Study Group Parkinson’s Research: the Organized GI, andMe, GenePd, NeuroGenetics Research C, Hussman Institute of Human G, Ashkenazi Jewish Dataset I, Cohorts for H, Aging Research in Genetic E, North American Brain Expression C, United Kingdom Brain Expression C, Greek Parkinson’s Disease C, Alzheimer Genetic Analysis G, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB (2014) Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease. Nat Genet 46(9):989–993CrossRef PubMed PubMedCentral
  Nalls MA, Escott-Price V, Williams NM, Lubbe S, Keller MF, Morris HR, Singleton AB, International Parkinson’s Disease Genomics C (2015) Genetic risk and age in Parkinson’s disease: continuum not stratum. Move Disord Off J Move Disord Soc 30(6):850–854CrossRef
  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. J Hum Genet 60(7):357–362CrossRef PubMed
  Shimizu F, Katagiri T, Suzuki M, Watanabe T, Okuno S, Kuga Y, Nagata M, Fujiwara T, Nakamura Y, Takahashi E (1997) Cloning and chromosome assignment to 1q32 of a human cDNA (RAB7L1) encoding a small GTP-binding protein, a member of the RAS superfamily. Cytogen Genome Res 77(3–4):261–263CrossRef
  Song W, Guo X, Chen K, Chen X, Cao B, Wei Q, Huang R, Zhao B, Wu Y, Shang H-F (2014) The impact of non-motor symptoms on the Health-Related Quality of Life of Parkinson’s disease patients from Southwest China. Parkinsonism Relat Disord 20(2):149–152CrossRef PubMed
  Verstraeten A, Theuns J, Van Broeckhoven C (2015) Progress in unraveling the genetic etiology of Parkinson disease in a genomic era. Trends Gen TIG 31(3):140–149CrossRef
  Yan Y, Laroui H, Ingersoll SA, Ayyadurai S, Charania M, Yang S, Dalmasso G, Obertone TS, Nguyen H, Sitaraman SV, Merlin D (2011) Overexpression of Ste20-related proline/alanine-rich kinase exacerbates experimental colitis in mice. J Immunol 187(3):1496–1505CrossRef PubMed PubMedCentral
  
• 作者单位：Ling Wang (1)
  Lan Cheng (1)
  Zhong-Jiao Lu (1)
  Xiao-Yi Sun (1)
  Jun-Ying Li (1)
  Rong Peng (1)
  
  1. Department of Neurology, West China Hospital, Sichuan University, Sichuan, 610041, Sichuan Province, People’s Republic of China
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Pharmacology and Toxicology
  Psychiatry
  
• 出版者：Springer Wien
• ISSN：1435-1463

文摘

Previous studies identified that polymorphisms RAB7L1/NUCKS1 rs823118, MCCC1 rs12637471 and STK39 rs1955337 to be the risk loci for Parkinson’s disease (PD) in a Caucasian population. However, the characteristics of these three polymorphisms in a Han Chinese population from mainland China were unknown. We examined genetic associations of rs823118, rs12637471 and rs1955337 with PD susceptibility in a Han Chinese population of 1016 sporadic PD patients and 1069 controls. We also conducted further stratified analysis according to age at onset and compared the clinical characteristics between minor allele carriers and non-carriers for each locus. In this study, the minor allele frequency (MAF) was significantly different of RAB7L1/NUCKS1 rs823118 (P = 0.003) and MCCC1 rs12637471 (P = 0.008) between cases and controls. Subjects of RAB7L1/NUCKS1 rs823118 with CC+CT genotypes had a decreased risk compared to those with TT genotype (P = 0.001) and this association also can be seen among younger population (<50 years, P = 0.011). For the MCCC1 rs12637471, subjects with GA+GG genotypes had an increased risk compared to those with AA genotype (P = 0.017). However, we did not observe any significant difference in allele and genotype distribution between PD patients and controls for rs1955337 in STK39. In addition, minor allele carriers cannot be distinguished from non-carriers based on their clinical features of the three loci. Our study provides strong support for the susceptibility role of rs823118 and rs12637471 in sporadic PD in a Han Chinese population.