scholarly journals A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Ryoichi Nakamura ◽  
Kazuharu Misawa ◽  
Genki Tohnai ◽  
Masahiro Nakatochi ◽  
Sho Furuhashi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Japanese Population ◽  
Genome Wide Association Study ◽  
Meta Analysis ◽  
European Ancestry ◽  
Japanese Cohort ◽  
Genome Wide ◽  
Sporadic Als ◽  
A Genome ◽  
Lateral Sclerosis

Abstract Amyotrophic lateral sclerosis (ALS) is a devastating progressive motor neuron disease that affects people of all ethnicities. Approximately 90% of ALS cases are sporadic and thought to have multifactorial pathogenesis. To understand the genetics of sporadic ALS, we conducted a genome-wide association study using 1,173 sporadic ALS cases and 8,925 controls in a Japanese population. A combined meta-analysis of our Japanese cohort with individuals of European ancestry revealed a significant association at the ACSL5 locus (top SNP p = 2.97 × 10−8). We validated the association with ACSL5 in a replication study with a Chinese population and an independent Japanese population (1941 ALS cases, 3821 controls; top SNP p = 1.82 × 10−4). In the combined meta-analysis, the intronic ACSL5 SNP rs3736947 showed the strongest association (p = 7.81 × 10−11). Using a gene-based analysis of the full multi-ethnic dataset, we uncovered additional genes significantly associated with ALS: ERGIC1, RAPGEF5, FNBP1, and ATXN3. These results advance our understanding of the genetic basis of sporadic ALS.

scholarly journals Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

2010 ◽  
Vol 9 (10) ◽  
pp. 978-985 ◽  
Author(s):  
Hannu Laaksovirta ◽  
Terhi Peuralinna ◽  
Jennifer C Schymick ◽  
Sonja W Scholz ◽  
Shaoi-Lin Lai ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Chromosome 9P21 ◽  
Genome Wide ◽  
A Genome ◽  
Lateral Sclerosis

scholarly journals C9orf72andUNC13Aare shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

2014 ◽  
Vol 76 (1) ◽  
pp. 120-133 ◽  
Author(s):  
Frank P. Diekstra ◽  
Vivianna M. Van Deerlin ◽  
John C. van Swieten ◽  
Ammar Al-Chalabi ◽  
Albert C. Ludolph ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Frontotemporal Dementia ◽  
Meta Analysis ◽  
Genome Wide ◽  
A Genome ◽  
Shared Risk ◽  
Lateral Sclerosis

scholarly journals A genome-wide meta-analysis uncovers six sequence variants conferring risk of vertigo

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Astros Th. Skuladottir ◽  
Gyda Bjornsdottir ◽  
Muhammad Sulaman Nawaz ◽  
Hannes Petersen ◽  
Solvi Rognvaldsson ◽  
...  
Keyword(s):  
Association Study ◽  
Hearing Impairment ◽  
Genome Wide Association Study ◽  
Meta Analysis ◽  
Genome Wide Association ◽  
European Ancestry ◽  
Sequence Variants ◽  
Age Related ◽  
Genome Wide ◽  
A Genome

AbstractVertigo is the leading symptom of vestibular disorders and a major risk factor for falls. In a genome-wide association study of vertigo (Ncases = 48,072, Ncontrols = 894,541), we uncovered an association with six common sequence variants in individuals of European ancestry, including missense variants in ZNF91, OTOG, OTOGL, and TECTA, and a cis-eQTL for ARMC9. The association of variants in ZNF91, OTOGL, and OTOP1 was driven by an association with benign paroxysmal positional vertigo. Using previous reports of sequence variants associating with age-related hearing impairment and motion sickness, we found eight additional variants that associate with vertigo. Although disorders of the auditory and the vestibular system may co-occur, none of the six genome-wide significant vertigo variants were associated with hearing loss and only one was associated with age-related hearing impairment. Our results uncovered sequence variants associating with vertigo in a genome-wide association study and implicated genes with known roles in inner ear development, maintenance, and disease.

A genome-wide association study on amyotrophic lateral sclerosis in the Taiwanese Han population

2016 ◽  
Vol 10 (6) ◽  
pp. 597-611 ◽  
Author(s):  
Chi-Jim Chen ◽  
Chien-Ming Chen ◽  
Tun-Wen Pai ◽  
Hao-Teng Chang ◽  
Chi-Shin Hwang
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Association Study ◽  
Genome Wide Association Study ◽  
Genome Wide Association ◽  
Han Population ◽  
Genome Wide ◽  
A Genome ◽  
Lateral Sclerosis

scholarly journals Genetic associations and architecture of asthma-chronic obstructive pulmonary disease overlap

2020 ◽  
Author(s):  
C. John ◽  
A.L. Guyatt ◽  
N. Shrine ◽  
R. Packer ◽  
T.A. Olafsdottir ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Meta Analysis ◽  
European Ancestry ◽  
Chronic Obstructive ◽  
Genetic Associations ◽  
Obstructive Pulmonary Disease ◽  
Genome Wide ◽  
A Genome ◽  
Stage 1

AbstractSome individuals have characteristics of both asthma and COPD (asthma-COPD overlap, ACO), and evidence suggests they experience worse outcomes than those with either condition alone. Improved knowledge of the genetic architecture would contribute to understanding whether determinants of risk in this group differ from those in COPD or asthma.We conducted a genome-wide association study in 8,068 cases and 40,360 controls of European ancestry from UK Biobank (stage 1). After excluding variants only associated with asthma or COPD we selected 31 variants for further investigation in 12 additional cohorts (stage 2), and discovered eight novel signals for ACO in a meta-analysis of stage 1 and 2 studies.Our signals include an intergenic signal on chromosome 5 not previously associated with asthma, COPD or lung function, and suggest a spectrum of shared and distinct genetic influences in asthma, COPD and ACO. A number of signals may represent loci that predispose to serious long-term consequences in people with asthma.

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