Literature DB >> 33423828

Assessment of LIN28A variants in Parkinson's disease in large European cohorts.

Monica Diez-Fairen1, Mary B Makarious2, Sara Bandres-Ciga2, Cornelis Blauwendraat3.   

Abstract

Parkinson's disease (PD) is a complex neurodegenerative disease with a strong genetic component. To date, several genes have been associated with monogenic forms of the disease, but these only explain a small fraction of the observed familial aggregation in PD. Recently, a heterozygous loss-of-function variant in LIN28A was associated with PD pathogenesis in the Asian population. Here, we comprehensively investigate the role of LIN28A variants in PD patients of European ancestry and assess susceptibility using individual-level genotyping data from 14,671 PD cases and 17,667 controls, as well as whole-genome sequencing data from 1647 patients with PD and 1050 controls. In addition, we further assess the summary statistics from the most recent genome-wide association studies meta-analyses to date for PD risk and age at onset. After evaluating these data, we did not find evidence to support a role for LIN28A as a major causal gene for PD. However, additional large-scale familial and case-control studies in non-European ancestry populations are necessary to further evaluate the role of LIN28A in PD etiology. Published by Elsevier Inc.

Entities:  

Keywords:  LIN28A; Loss of function; Parkinson's disease; Risk factor

Mesh:

Substances:

Year:  2020        PMID: 33423828      PMCID: PMC7920911          DOI: 10.1016/j.neurobiolaging.2020.12.002

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN: 0197-4580            Impact factor:   4.673


  10 in total

1.  LIN28A enhances the therapeutic potential of cultured neural stem cells in a Parkinson's disease model.

Authors:  Yong-Hee Rhee; Tae-Ho Kim; A-Young Jo; Mi-Yoon Chang; Chang-Hwan Park; Sang-Mi Kim; Jae-Jin Song; Sang-Min Oh; Sang-Hoon Yi; Hyeon Ho Kim; Bo-Hyun You; Jin-Wu Nam; Sang-Hun Lee
Journal:  Brain       Date:  2016-08-18       Impact factor: 13.501

Review 2.  Genetics of Parkinson's disease: An introspection of its journey towards precision medicine.

Authors:  Sara Bandres-Ciga; Monica Diez-Fairen; Jonggeol Jeff Kim; Andrew B Singleton
Journal:  Neurobiol Dis       Date:  2020-01-25       Impact factor: 5.996

3.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Authors:  Kai Wang; Mingyao Li; Hakon Hakonarson
Journal:  Nucleic Acids Res       Date:  2010-07-03       Impact factor: 16.971

4.  LIN28A loss of function is associated with Parkinson's disease pathogenesis.

Authors:  Mi-Yoon Chang; Boram Oh; Jang-Eun Choi; Yanuar Alan Sulistio; Hye-Ji Woo; Ayoung Jo; Jinil Kim; Eun-Hee Kim; Seung Won Kim; Jungwook Hwang; Jungyun Park; Jae-Jin Song; Oh-Chan Kwon; Hyongbum Henry Kim; Young-Hoon Kim; Joo Yeon Ko; Jun Young Heo; Min Joung Lee; Moses Lee; Murim Choi; Sun Ju Chung; Hyun-Seob Lee; Sang-Hun Lee
Journal:  EMBO J       Date:  2019-11-21       Impact factor: 11.598

5.  Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.

Authors:  Cornelis Blauwendraat; Karl Heilbron; Costanza L Vallerga; Sara Bandres-Ciga; Rainer von Coelln; Lasse Pihlstrøm; Javier Simón-Sánchez; Claudia Schulte; Manu Sharma; Lynne Krohn; Ari Siitonen; Hirotaka Iwaki; Hampton Leonard; Alastair J Noyce; Manuela Tan; J Raphael Gibbs; Dena G Hernandez; Sonja W Scholz; Joseph Jankovic; Lisa M Shulman; Suzanne Lesage; Jean-Christophe Corvol; Alexis Brice; Jacobus J van Hilten; Johan Marinus; Johanna Eerola-Rautio; Pentti Tienari; Kari Majamaa; Mathias Toft; Donald G Grosset; Thomas Gasser; Peter Heutink; Joshua M Shulman; Nicolas Wood; John Hardy; Huw R Morris; David A Hinds; Jacob Gratten; Peter M Visscher; Ziv Gan-Or; Mike A Nalls; Andrew B Singleton
Journal:  Mov Disord       Date:  2019-04-07       Impact factor: 10.338

Review 6.  The genetic architecture of Parkinson's disease.

Authors:  Cornelis Blauwendraat; Mike A Nalls; Andrew B Singleton
Journal:  Lancet Neurol       Date:  2019-09-11       Impact factor: 44.182

7.  Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.

Authors:  Mike A Nalls; Cornelis Blauwendraat; Costanza L Vallerga; Karl Heilbron; Sara Bandres-Ciga; Diana Chang; Manuela Tan; Demis A Kia; Alastair J Noyce; Angli Xue; Jose Bras; Emily Young; Rainer von Coelln; Javier Simón-Sánchez; Claudia Schulte; Manu Sharma; Lynne Krohn; Lasse Pihlstrøm; Ari Siitonen; Hirotaka Iwaki; Hampton Leonard; Faraz Faghri; J Raphael Gibbs; Dena G Hernandez; Sonja W Scholz; Juan A Botia; Maria Martinez; Jean-Christophe Corvol; Suzanne Lesage; Joseph Jankovic; Lisa M Shulman; Margaret Sutherland; Pentti Tienari; Kari Majamaa; Mathias Toft; Ole A Andreassen; Tushar Bangale; Alexis Brice; Jian Yang; Ziv Gan-Or; Thomas Gasser; Peter Heutink; Joshua M Shulman; Nicholas W Wood; David A Hinds; John A Hardy; Huw R Morris; Jacob Gratten; Peter M Visscher; Robert R Graham; Andrew B Singleton
Journal:  Lancet Neurol       Date:  2019-12       Impact factor: 44.182

8.  Second-generation PLINK: rising to the challenge of larger and richer datasets.

Authors:  Christopher C Chang; Carson C Chow; Laurent Cam Tellier; Shashaank Vattikuti; Shaun M Purcell; James J Lee
Journal:  Gigascience       Date:  2015-02-25       Impact factor: 6.524

9.  RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.

Authors:  Xiaowei Zhan; Youna Hu; Bingshan Li; Goncalo R Abecasis; Dajiang J Liu
Journal:  Bioinformatics       Date:  2016-02-15       Impact factor: 6.937

10.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

  10 in total
  1 in total

1.  Summix: A method for detecting and adjusting for population structure in genetic summary data.

Authors:  Ian S Arriaga-MacKenzie; Gregory Matesi; Samuel Chen; Alexandria Ronco; Katie M Marker; Jordan R Hall; Ryan Scherenberg; Mobin Khajeh-Sharafabadi; Yinfei Wu; Christopher R Gignoux; Megan Null; Audrey E Hendricks
Journal:  Am J Hum Genet       Date:  2021-06-21       Impact factor: 11.025

  1 in total

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