Resequencing the complete SNCA locus in Indian patients with Parkinson’s disease

Autor: Asha Kishore, Marc Sturm, Kanchana Soman Pillai, Christopher Hakkaart, Divya Kalikavil Puthanveedu, Madhusoodanan Urulangodi, Syam Krishnan, Ashwin Ashok Kumar Sreelatha, Roopa Rajan, Pramod Kumar Pal, Ravi Yadav, Gangadhara Sarma, Nicolas Casadei, Thomas Gasser, Peter Bauer, Olaf Riess, Manu Sharma

Publikováno v: npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-5 (2024)

Abstract The genetic loci implicated in familial Parkinson’s disease (PD) have limited generalizability to the Indian PD population. We tested mutations and the frequency of known mutations in the SNCA gene in a PD cohort from India. We selected 29

Externí odkaz: https://doaj.org/article/168e33231a6740adb86274bd20fc49b5

Fine mapping of the HLA locus in Parkinson’s disease in Europeans

Autor: Eric Yu, Aditya Ambati, Maren Stolp Andersen, Lynne Krohn, Mehrdad A. Estiar, Prabhjyot Saini, Konstantin Senkevich, Yuri L. Sosero, Ashwin Ashok Kumar Sreelatha, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Mathias Toft, Marte K. Viken, Manu Sharma, Cornelis Blauwendraat, Lasse Pihlstrøm, Emmanuel Mignot, Ziv Gan-Or

Publikováno v: npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-7 (2021)

Abstract We fine mapped the leukocyte antigen (HLA) region in 13,770 Parkinson’s disease (PD) patients, 20,214 proxy-cases, and 490,861 controls of European origin. Four HLA types were associated with PD after correction for multiple comparisons, H

Externí odkaz: https://doaj.org/article/f4f24fcd8c2b4d28bc704742820e3662

Genetic Architecture of Parkinson's Disease in the Indian Population: Harnessing Genetic Diversity to Address Critical Gaps in Parkinson's Disease Research

Autor: Roopa Rajan, K. P. Divya, Rukmini Mridula Kandadai, Ravi Yadav, Venkata P. Satagopam, U. K. Madhusoodanan, Pankaj Agarwal, Niraj Kumar, Teresa Ferreira, Hrishikesh Kumar, A. V. Sreeram Prasad, Kuldeep Shetty, Sahil Mehta, Soaham Desai, Suresh Kumar, L. K. Prashanth, Mohit Bhatt, Pettarusp Wadia, Sudha Ramalingam, G. M. Wali, Sanjay Pandey, Felix Bartusch, Maximilian Hannussek, Jens Krüger, Ashwin Kumar-Sreelatha, Sandeep Grover, Peter Lichtner, Marc Sturm, Jochen Roeper, Volker Busskamp, Giriraj R. Chandak, Jens Schwamborn, Pankaj Seth, Thomas Gasser, Olaf Riess, Vinay Goyal, Pramod Kumar Pal, Rupam Borgohain, Rejko Krüger, Asha Kishore, Manu Sharma, The Lux-GIANT Consortium

Publikováno v: Frontiers in Neurology, Vol 11 (2020)

Over the past two decades, our understanding of Parkinson's disease (PD) has been gleaned from the discoveries made in familial and/or sporadic forms of PD in the Caucasian population. The transferability and the clinical utility of genetic discoveri

Externí odkaz: https://doaj.org/article/3268a466280148719c06966c967d7436

Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson’s Disease

Autor: Athina Simitsi, Grazia Annesi, Hirotaka Matsuo, Leonor Correia Guedes, Mario Ezquerra, Kenya Nishioka, Ashwin Ashok Kumar Sreelatha, Simona Petrucci, Dimitri Krainc, Angela Deutschländer, Ekaterina Rogaeva, Lasse Pihlstrøm, Manu Sharma, Thomas Gasser, Mathias Toft, Jan O. Aasly, Cloé Domenighetti, Monica Diez-Fairen, Milena Radivojkov-Blagojevic, Sandeep Grover, Andrew B. Singleton, Bart P.C. van de Warrenburg, Yun Joong Kim, Andrea Quattrone, Sun Ju Chung, Gianni Pezzoli, Pierre-Emmanuel Sugier, Sulev Kõks, Lena F. Burbulla, Jonathan Carr, Walter Pirker, Efthimos Dardiotis, Karin Wirdefeldt, George D. Mellick, Jean-Christophe Corvol, Dheeraj Reddy Bobbili, Anthony E. Lang, Eugénie Mutez, Georges M. Hadjigeorgiou, Anna Zecchinelli, Laura Brighina, Connor Edsall, Océane Mohamed, Berta Portugal, Andreas Puschmann, Nancy L. Pedersen, Alexander Zimprich, Patrick May, Matthew J. Farrer, Leonidas Stefanis, Yusuke Kawamura, Eduardo Tolosa, Claudia Schulte, Alexis Brice, Caroline Ran, Manuela Tan, Pille Taba, Peter Lichtner, Alexis Elbaz, Dena G. Hernandez, Monica Gagliardi, Andrea Carmine Belin, Joaquim J. Ferreira, Suzanne Lesage, Pierre Kolber, Kathrin Brockmann, Marie-Christine Chartier-Harlin, Carl E Clarke, Karen E. Morrison, Nobutaka Hattori, Stefano Duga, Letizia Straniero, Rejko Krüger, Carlo Ferrarese, Pau Pastor, Soraya Bardien, Clara Hellberg, Bastiaan R. Bloem, Enza Maria Valente

Publikováno v: J Parkinsons Dis
Journal of Parkinson's Disease, 12, 267-282
Journal of Parkinson's Disease, 12, 1, pp. 267-282
Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease (COURAGE-PD) consortium 2021, ' Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease ', Journal of Parkinson's disease . https://doi.org/10.3233/JPD-212851
Journal of Parkinson's Disease 12(1), 267-282 (2022). doi:10.3233/JPD-212851
Journal of Parkinson's disease
12 (2022): 267–282. doi:10.3233/JPD-212851
info:cnr-pdr/source/autori:Cloé Domenighetti; Pierre-Emmanuel Sugier; Ashwin Ashok Kumar Sreelatha; Claudia Schulte; Sandeep Grover; Océane Mohamed; Berta Portugal; Patrick May; Dheeraj R Bobbili; Milena Radivojkov-Blagojevic; Peter Lichtner; Andrew B Singleto; Dena G Hernandez; Connor Edsall; George D Mellick; Alexander Zimprich; Walter Pirker; Ekaterina Rogaeva; Anthony E Lang; Sulev Koks; Pille Taba; Suzanne Lesage; Alexis Brice; Jean-Christophe Corvol; Marie-Christine Chartier-Harlin; Eugénie Mutez; Kathrin Brockmann; Angela B Deutschländer; Georges M Hadjigeorgiou; Efthimos Dardiotis; Leonidas Stefanis; Athina Maria Simitsi; Enza Maria Valente; Simona Petrucci; Stefano Duga; Letizia Straniero; Anna Zecchinelli; Gianni Pezzoli; Laura Brighina; Carlo Ferrarese; Grazia Annesi; Andrea Quattrone; Monica Gagliardi; Hirotaka Matsuo; Yusuke Kawamura; Nobutaka Hattori; Kenya Nishioka; Sun Ju Chung; Yun Joong Kim; Pierre Kolber; Bart Pc van de Warrenburg; Bastiaan R Bloem; Jan Aasly; Mathias Toft; Lasse Pihlstrøm; Leonor Correia Guedes; Joaquim J Ferreira; Soraya Bardien; Jonathan Carr: Eduardo Tolosa; Mario Ezquerra; Pau Pastor; Monica Diez-Fairen; Karin Wirdefeldt; Nancy L Pedersen; Caroline Ran; Andrea C Belin; Andreas Puschmann; Clara Hellberg; Carl E Clarke; Karen E Morrison; Manuela Tan; Dimitri Krainc; Lena F Burbulla; Matt J Farrer; Rejko Krüger; Thomas Gasser; Manu Sharma; Alexis Elbaz; Comprehensive Unbiaised Risk Factor Assessment for Genetics and Environment in Parkinson's Disease (Courage-PD) consortium./titolo:Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease/doi:10.3233%2FJPD-212851/rivista:Journal of Parkinson's disease (Print)/anno:2022/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:12

Contains fulltext : 248871.pdf (Publisher’s version ) (Open Access) BACKGROUND: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce453c7d2a0c16d43984faab2107ce9
https://doi.org/10.3233/jpd-212851

Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium 10.1212/WNL.0000000000200699

Autor: Grover, Sandeep, Ashwin, Ashok Kumar Sreelatha, Pihlstrom, Lasse, Domenighetti, Cloé, Schulte, Claudia, Sugier, Pierre-Emmanuel, Radivojkov-Blagojevic, Milena, Lichtner, Peter, Mohamed, Océane, Portugal, Berta, Landoulsi, Zied, May, Patrick, Bobbili, Dheeraj Reddy, Edsall, Connor, Bartusch, Felix, Hanussek, Maximilian, Krüger, Jens, Hernandez, Dena G., Blauwendraat, Cornelis, Mellick, George D., Zimprich, Alexander, Pirker, Walter, Tan, Manuela, Rogaeva, Ekaterina, Lang, Anthony, Koks, Sulev, Taba, Pille, Lesage, Suzanne, Brice, Alexis, Corvol, Jean-Christophe, Chartier-Harlin, Marie-Christine, Mutez, Eugenie, Brockmann, Kathrin, Deutschländer, Angela B., Hadjigeorgiou, Georges M., Dardiotis, Efthimos, Stefanis, Leonidas, Simitsi, Athina Maria, Valente, Enza Maria, Petrucci, Simona, Straniero, Letizia, Zecchinelli, Anna, Pezzoli, Gianni, Brighina, Laura, Ferrarese, Carlo, Annesi, Grazia, Quattrone, Andrea, Gagliardi, Monica, Burbulla, Lena F., Matsuo, Hirotaka, Kawamura, Yusuke, Hattori, Nobutaka, Nishioka, Kenya, Chung, Sun Ju, Kim, Yun Joong, Pavelka, Lukas, van de Warrenburg, Bart P. C., Bloem, Bastiaan R., Singleton, Andrew B., Aasly, Jan, Toft, Mathias, Guedes, Leonor Correia, Ferreira, Joaquim J., Bardien, Soraya, Carr, Jonathan, Tolosa, Eduardo, Ezquerra, Mario, Pastor, Pau, Diez-Fairen, Monica, Wirdefeldt, Karin, Pedersen, Nancy L., Ran, Caroline, Belin, Andrea C., Puschmann, Andreas, Hellberg, Clara, Clarke, Carl E., Morrison, Karen E., Krainc, Dimitri, Farrer, Matt J., Krüger, Rejko, Elbaz, Alexis, Gasser, Thomas, Sharma, Manu, of, On Behalf, Genetics, The Comprehensive Unbiased Risk Factor Assessment For, consortium, Environment In Parkinson Textquoterights Disease Courage-P. D.

Background and Objectives: Considerable heterogeneity exists in the literature concerning genetic determinants of the age of onset (AAO) of Parkinson\textquoterights disease (PD), which could be attributed to lack of well-powered replication cohorts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2658::985d6040ac8b6af58c4d5433975ae217
http://orbilu.uni.lu/handle/10993/51393