Nikolaus S, Schreiber S. Diagnostics of inflammatory bowel disease. Gastroenterology. 2007;133(5):1670–89.
Tolosa E, Garrido A, Scholz SW, Poewe W. Challenges in the diagnosis of Parkinson’s disease. Lancet Neurol. 2021;20(5):385–97.
Article CAS PubMed PubMed Central Google Scholar
Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson’s disease. Neuron. 2004;44(4):595–600.
Article CAS PubMed Google Scholar
Lee HS, Lobbestael E, Vermeire S, Sabino J, Cleynen I. Inflammatory bowel disease and Parkinson’s disease: common pathophysiological links. Gut. 2021;70(2):408–17.
Hui KY, Fernandez-Hernandez H, Hu J, Schaffner A, Pankratz N, Hsu NY, et al. Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease. Sci Transl Med. 2018;10(423):eaai7795.
Article PubMed PubMed Central Google Scholar
Peter I, Dubinsky M, Bressman S, Park A, Lu C, Chen N, et al. Anti-tumor necrosis factor therapy and incidence of Parkinson disease among patients with inflammatory bowel disease. JAMA Neurol. 2018;75(8):939–46.
Article PubMed PubMed Central Google Scholar
Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, et al. Genome-wide pleiotropy between Parkinson disease and autoimmune diseases. JAMA Neurol. 2017;74(7):780–92.
Article PubMed PubMed Central Google Scholar
Kang X, Ploner A, Wang Y, Ludvigsson JF, Williams DM, Pedersen NL, et al. Genetic overlap between Parkinson’s disease and inflammatory bowel disease. Brain Commun. 2023;5(1):fcad002.
Article PubMed PubMed Central Google Scholar
Zhu Y, Yuan M, Liu Y, Yang F, Chen WZ, Xu ZZ, et al. Association between inflammatory bowel diseases and Parkinson’s disease: systematic review and meta-analysis. Neural Regen Res. 2022;17(2):344–53.
Article CAS PubMed Google Scholar
Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, et al. Protective effect of LRRK2 p.R1398H on risk of Parkinson’s disease is independent of MAPT and SNCA variants. Neurobiol Aging. 2014;35(1):266e5-14.
Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, et al. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson’s Disease (GEO-PD) Consortium. Mov Disord. 2013;28(12):1740–4.
Article CAS PubMed PubMed Central Google Scholar
Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson’s disease: a case-control study. Lancet Neurol. 2011;10(10):898–908.
Article CAS PubMed PubMed Central Google Scholar
Billingsley KJ, Bandres-Ciga S, Saez-Atienzar S, Singleton AB. Genetic risk factors in Parkinson’s disease. Cell Tissue Res. 2018;373(1):9–20.
Article CAS PubMed PubMed Central Google Scholar
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, et al. Insights into the genetic epidemiology of Crohn’s and rare diseases in the Ashkenazi Jewish population. PLoS Genet. 2018;14(5):e1007329.
Article PubMed PubMed Central Google Scholar
Rui Q, Ni H, Li D, Gao R, Chen G. The role of LRRK2 in neurodegeneration of Parkinson disease. Curr Neuropharmacol. 2018;16(9):1348–57.
Article CAS PubMed PubMed Central Google Scholar
Lake J, Reed X, Langston RG, Nalls MA, Gan-Or Z, Cookson MR, et al. Coding and noncoding variation in LRRK2 and Parkinson’s disease risk. Mov Disord. 2022;37(1):95–105.
Article CAS PubMed Google Scholar
Van der Auwera GA, Carneiro MO, Hartl C, Poplin R, Del Angel G, Levy-Moonshine A, et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43(1110):11.0.1-.0.33.
Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, et al. A global reference for human genetic variation. Nature. 2015;526(7571):68–74.
Alexander DH, Novembre J, Lange K. Fast model-based estimation of ancestry in unrelated individuals. Genome Res. 2009;19(9):1655–64.
Article CAS PubMed PubMed Central Google Scholar
Szustakowski JD, Balasubramanian S, Kvikstad E, Khalid S, Bronson PG, Sasson A, et al. Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank. Nat Genet. 2021;53(7):942–8.
Article CAS PubMed Google Scholar
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559–75.
Article CAS PubMed PubMed Central Google Scholar
Manichaikul A, Mychaleckyj JC, Rich SS, Daly K, Sale M, Chen WM. Robust relationship inference in genome-wide association studies. Bioinformatics. 2010;26(22):2867–73.
Article CAS PubMed PubMed Central Google Scholar
International HapMap Consortium, Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, et al. Integrating common and rare genetic variation in diverse human populations. Nature. 2010;467(7311):52–8.
Raj A, Stephens M, Pritchard JK. fastSTRUCTURE: variational inference of population structure in large SNP data sets. Genetics. 2014;197(2):573–89.
Article PubMed PubMed Central Google Scholar
McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, et al. The Ensembl Variant Effect Predictor. Genome Biol. 2016;17(1):122.
Article PubMed PubMed Central Google Scholar
Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886–94.
Article CAS PubMed Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–43.
Article CAS PubMed PubMed Central Google Scholar
Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, et al. The mutation significance cutoff: gene-level thresholds for variant predictions. Nat Methods. 2016;13(2):109–10.
Article CAS PubMed PubMed Central Google Scholar
Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, et al. The human gene damage index as a gene-level approach to prioritizing exome variants. Proc Natl Acad Sci U S A. 2015;112(44):13615–20.
Article CAS PubMed PubMed Central Google Scholar
Cattell RB. The scree test for the number of factors. Multivariate Behav Res. 1966;1(2):245–76.
Article CAS PubMed Google Scholar
Ma C, Blackwell T, Boehnke M, Scott LJ, GoT2D investigators. Recommended joint and meta-analysis strategies for case-control association testing of single low-count variants. Genet Epidemiol. 2013;37(6):539–50.
Article PubMed PubMed Central Google Scholar
Lee S, Abecasis GR, Boehnke M, Lin X. Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet. 2014;95(1):5–23.
Article CAS PubMed PubMed Central Google Scholar
Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA, et al. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet. 2012;91(2):224–37.
Article CAS PubMed PubMed Central Google Scholar
Zhang P, Cobat A, Lee YS, Wu Y, Bayrak CS, Boccon-Gibod C, et al. A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity. Am J Hum Genet. 2021;108(6):1012–25.
Article CAS PubMed PubMed Central Google Scholar
Huang H, Fang M, Jostins L, Umicevic Mirkov M, Boucher G, Anderson CA, et al. Fine-mapping inflammatory bowel disease loci to single-variant resolution. Nature. 2017;547(7662):173–8.
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