Accès ouvert déclaré
2026
article
Genome-wide association study of copy number variations in Parkinson's disease
Z. Landoulsi, A. A.K. Sreelatha, Kuznetsov N., C. Schulte, D. R. Bobbili, L. Montanucci, Leu C., Niestroj L. -M., Hassanin E., C. Domenighetti, P. E. Sugier, M. Radivojkov-Blagojevic, P. Lichtner, B. Portugal, C. Edsall, J. Krüger, D. G. Hernandez, Blauwendraat C., G. D. Mellick, A. Zimprich, W. Pirker, M. Tan, E. Rogaeva, Lang A., S. Koks, P. Taba, S. Lesage, Brice A., J.-C. Corvol, M. C. Chartier-Harlin, E. Mutez, K. Brockmann, A. B. Deutschlander, G. M. Hadjigeorgiou, E. Dardiotis, Stefanis L., A. M. Simitsi, Valente E. M., S. Petrucci, L. Straniero, A. Zecchinelli, Pezzoli G., L. Brighina, C. Ferrarese, G. Annesi, Quattrone A, M. Gagliardi, L. F. Burbulla, H. Matsuo, A. Nakayama, Hattori N., K. Nishioka, S.J. Chung, Kim Y. J., L. Pavelka, Kolber P., B. P.C. Warrenburg, Bloem B. R., A. B. Singleton, D. Vitale, M. Toft, L. Pihlstrøm, Guedes L. C., Ferreira J. J., S. Bardien, J. Carr, E. Tolosa, M. Ezquerra, P. Pastor, K. Wirdefeldt, Pedersen N. L., C. Ran, A. C. Belin, A. Puschmann, C. E. Clarke, K. E. Morrison, Krainc D., M. J. Farrer, Lal D., Atadzhanov M., Nguyen T., Nguyen D., A. Rawls, B. Boeve, B. Ritz, C. Barrett, Hennessey C., Swanson-Fischer C., Chaney Z., C. Zabetian, Wszolek Z. K., U. Kang, Schekman R., Brooks D., Disbrow E., Leverenz J. B., Pfingst R., Payami H., Bruno M. K., R. Saunders-Pullman, Daida K., Sharp D., G. Serranò, Aslam S., Shaw C., Ballard S., Grant S., Nirenberg M., Menon S., D. LEWIS, Song Y., Sherer T., T. Beach, T. Foroud, Xie T., Lubbe S., Dumanis S., Chowdhury S., Bandres-Ciga S., R. Walker, R. Alcalay, R. Albin, N. E. Mencacci, Louie N., M. A. Nalls, Inca-Martinez M., Puckelwartz M. J., Koretsky M., Makarious M. B., Dean M., Kuhl M., Marsili L., L. Shulman, Ruffrage L., Screven L., Ibanez L., Chahine L. M., Levine K. S., Marek K., K. Markopoulou, Andersh K., Kieburtz K., K. Nuytemans, Galvelis K. G., Murphy K., J. C. Sölle, J. Shulman, J. Jankovic, Kim J. J., Williamson J., Sarmiento I. J. K., Mata I. F., Chen H., Iwaki H., Leonard H., Serrano G. E., Faghri F., Riley E., Shiamim E., Hernandez D., Hall D., Wegel C., Comart C., Pantazis C. B., C. Cruchaga, Jonas C., Fiske B., Casey B., B. Siddiqi, Sobering A. K., O'Grady A., Espay A., Tai Y., Real R., Attuah D., C. Morris, Williams-Gray C., C. Lambert, Burn D., Warner T., Gentleman S., Bhatia K., L. Parkkinen, M. Hu, M. Ryten, Barker R., Lee H., V. Escott-Price, Finch S., Obese V., S. Dey, Jasaityte S., S. (S) Love, Weil R., R. Kaiyrzhanov, O. Okunoye, Williams N., Wood N., Rizig M., K.Y. Mok, Hardy J., Morris H. R., H. Houlden, Stafford E. J., D. Grosset, Carroll C., Schapira A., A. Schrag, A. Martínez-Carrasco, A. Noyce, Ertan S., Cakmak O. O., Genc G., Basak A. N., S. B. Sassi, Amouri R., Manizha G., Y. Wu, R.M. Wu, P.-J. Kung, Wu H. -C., Lin C. -H., P. Krack, Tinkhauser G., Zweier C., M. Swanberg, P. Svenningsson, Brolin K., El-Sadig S., P. Mir, Garre P. G., Fernandez-Santiago R., M.T. Periñán, K. Beyer, J. Hoenicka, I. Álvarez, Cubo E., Jang J., J.-H. Shin, B. Jeon, Step K., Pillay N., Amod F., van Midden V., Chew E., Foo J. N., Tan E. -K., Umair M., Mubarak B. A., I. Gilyazova, Akhmadeeva G., A. Gareeva, Iakovenko E., A. Viñuela, Rosales R., Doquenia M. L., Cornejo-Olivas M., S. Ur-Rehman, Maple-Grodem J., Lie I. H., K.Wahab K.Wahab, Ozomma S. I., Ojo O., N. Okubadejo, Sanyaolu A., Pitcher T. L., Anderson T. J., L. Charbonnier, Berg W. V. D., Ojha R., Tserensodnom B., Jaramillo N. M., AA Rivera, Reyes-Perez P., Rodriguez-Violante M., Martinez-Ramirez D., Pajo A. T., Tay Y. W., Mohamed W., Lim S.-Y., Azmin S., Murad N. A. A., Norlinah M. I., Ahmad-Annuar A., Tan A. H., Shambetova C., Abdraimova S., Myrzayev Z., D. Alzhanova, Б. Сыздыкова, Raushan T., Aidarov S., V. Akhmetzhanov, Yemagambetova A., Utegenova A., Kaishibayeva G., Karimova A., T. Shiraishi, M. Funayama, De Rosa A., Galandra C., T. Schirinzi, M. Avenali, Parnetti L., Thaler A., Shiner T., Salari M., Borgohain R., Rajan R., Kukkle P. L., Pal P., Divya K. P., A. Kishore, X. Zhou, Chan P., N.Y.F. Cheung, Ip N., Grace Chan, A. Medina, M. Stamelou, Tarnanas I., Dagklis I., Xiromerisiou G., Akpalu A., Bruggemann N., Kleinz T., B. Haslinger, D. Berg, Konig I., Sun W., Luth T., Heilbron K., Z. H. Fang, S. Groppa, Lange L. M., Lohmann K., J. Trinh, Madoev H., Hoglinger G., Hopfner F., Vollstedt E. -J., Klein C., B. Mollenhauer, Illarionova A., Westenberger A., Khatiashvili I., Kekenadze M., Vidailhet M., Zewde Y. Z., Kamel W. A., Salama M., Borghammer P., A. Hernandez, del Rio M. J., Orozco J., G. Arboleda, Liu Z., Luo W., Guo J., Shang H., Tang B., Galleguillos B. P., Fernandez-Toledo E., Aguilera P. A. O., Chana-Cuevas P., M.L. Bustamante, Miranda M., Senkevich K., Z. Gan-Or, Thibault R., E. Fon, O. Monchi, Costa L. F., Camargos S., V. Tumas, Awad P. S., Rieder C., Schumacher-Schuh A. F., D. Crosiers, Jafarov K., Rudaks L., Ocampo V. F., C. Sue, D. Yeow, S. Rowe, Renteria M. E., Ellis M., Kumar K., Shepherd C. E., Isayan M., Tavadyan Z., Khachatryan S., F. Capparelli, Kauffman M., Gatto E. M., Y. Mecheri, A. Elbaz, Gasser T., R. Kruger, Sharma M., May P.
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Le résumé fourni par la source
We investigated the role of copy number variations (CNVs) in Parkinson’s disease (PD) using genotyping data from 10,815 patients (2731 early-onset PD, EOPD) and 8901 controls from the COURAGE-PD consortium. CNVs were analyzed using a sliding window genome-wide association and burden approach. No genome-wide significant CNVs were detected in the overall cohort, but a robust deletion spanning exons 2–6 of PRKN was identified in EOPD cases, validated by MLPA, and replicated in the GP2 dataset (23,089 cases, 18,824 controls). CNV burden was significantly enriched in PD-related genes, primarily driven by PRKN, with the strongest effect observed in EOPD. PRKN CNV carriers showed earlier age at onset, confirmed by survival analysis. No association was observed for genome-wide or large CNV burden. Our findings reinforce the pivotal role of PRKN deletions in early-onset PD and highlight the need for high-resolution CNV analysis in large cohorts to uncover additional rare contributors to PD risk.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Genome-wide association study of copy number variations in Parkinson’s disease
- Date Crossref
- 20/04/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les sujets associés
Genomic variations and chromosomal abnormalitiesParkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology