ArticleEuropean journal of human genetics : EJHG2016
Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 51 citations in OpenAlex.
- Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.Journal of neurology · 2024Review
- Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.BMC research notes · 2023Article
- Update on Disease-Specific Biomarkers in Transthyretin Cardiac Amyloidosis.Current heart failure reports · 2022Review
- Adipokine Retinol Binding Protein 4 and Cardiovascular Diseases.Frontiers in physiology · 2022Review
- Are we creating a new phenotype? Physiological barriers and ethical considerations in the treatment of hereditary transthyretin-amyloidosis.Neurological research and practice · 2021Review
- Current and Emerging Therapies for Hereditary Transthyretin Amyloidosis: Strides Towards a Brighter Future.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis.Clinical epigenetics · 2020Article
- Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Review
- Disease-Specific Biomarkers in Transthyretin Cardiac Amyloidosis.Current heart failure reports · 2020Review
- Treating Protein Misfolding Diseases: Therapeutic Successes Against Systemic Amyloidoses.Frontiers in pharmacology · 2020Review
- Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses.Human genetics · 2019Article
- Article
- Transthyretin familial amyloid polyneuropathy: an update.Journal of neurology · 2018Review
- Life paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study.Journal of community genetics · 2018Article
- Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.European journal of human genetics : EJHG · 2017Article
- Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.BMC genomics · 2017Article
- Phenotypic variability of TTR Val122Ile mutation: a Caucasian patient with axonal neuropathy and normal heart.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Article
- Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.Annals of clinical and translational neurology · 2017Article
- Genetic background modifies amyloidosis in a mouse model of ATTR neuropathy.Biochemistry and biophysics reports · 2016Article
- The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa.Molecular genetics & genomic medicine · 2016Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial amyloid polyneuropathy (FAP) ATTRV30M is a neurodegenerative disorder due to point mutations in the transthyretin gene, with V30M being the commonest. FAP ATTRV30M shows a wide variation in age at onset (AO) between clusters, families and generations. Portuguese patients also show remarkable AO differences between genders. Genes found to be associated with FAP ATTRV30M pathways may act as AO modifiers. Our aim was to further explore the role of APCS and RBP4 genes and to study for the first time the involvement of sex-linked genetic modifiers - AR and HSD17B1 genes - in AO variation in Portuguese families. We collected DNA from a sample of 318 patients, currently under follow-up. A total of 18 tagging SNPs from APCS, RBP4, AR and HSD17B1 and 5 additional SNPs from APCS and RBP4 previously studied were genotyped. To account for nonindependency of AO between members of the same family, we used generalized estimating equations (GEEs). We found that APCS and RBP4 were associated with late AO. In addition, rs11187545 of the RBP4 was associated with an early AO. For the AR, in the male group three SNPs were associated with an early AO, whereas in the female group four were associated with both an early and later AO. These results strengthened the role of APCS and RBP4 genes and revealed for the first time the contribution of AR genes as an AO modifier in both males and females. These findings may have important implications in genetic counseling and for new therapeutic strategies.
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