Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
Adult
Aged
Amino Acid Substitution
Amyloid Neuropathies, Familial
/ complications
Biological Specimen Banks
Black People
Cardiomyopathies
/ complications
Female
Gene Expression
Heart Failure
/ complications
Heterozygote
Humans
Male
Middle Aged
Mutation
Phenotype
Polyneuropathies
/ complications
Prealbumin
/ genetics
Prevalence
United Kingdom
/ epidemiology
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
02 06 2021
02 06 2021
Historique:
received:
08
02
2021
accepted:
21
05
2021
entrez:
3
6
2021
pubmed:
4
6
2021
medline:
6
11
2021
Statut:
epublish
Résumé
Hereditary transthyretin-mediated (hATTR) amyloidosis is an underdiagnosed, progressively debilitating disease caused by mutations in the transthyretin (TTR) gene. V122I, a common pathogenic TTR mutation, is found in 3-4% of individuals of African ancestry in the United States and has been associated with cardiomyopathy and heart failure. To better understand the phenotypic consequences of carrying V122I, we conducted a phenome-wide association study scanning 427 ICD diagnosis codes in UK Biobank participants of African ancestry (n = 6062). Significant associations were tested for replication in the Penn Medicine Biobank (n = 5737) and the Million Veteran Program (n = 82,382). V122I was significantly associated with polyneuropathy in the UK Biobank (odds ratio [OR] = 6.4, 95% confidence interval [CI] 2.6-15.6, p = 4.2 × 10
Identifiants
pubmed: 34079032
doi: 10.1038/s41598-021-91113-6
pii: 10.1038/s41598-021-91113-6
pmc: PMC8172853
doi:
Substances chimiques
Prealbumin
0
TTR protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
11645Subventions
Organisme : CSRD VA
ID : IK2 CX001780
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_17228
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_QA137853
Pays : United Kingdom
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