Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation. 30295933

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Tafamidis meglumine, a transthyretin (TTR) stabilizer, is effective in delaying the progression of neuropathy in TTR amyloidosis with Val30Met mutations. 30478886

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE In 102 patients with hereditary ATTR amyloidosis (85 Val30Met and 17 non-Val30Met; 37 and 65 from endemic and non-endemic areas, respectively), results of motor nerve conduction studies (MNCSs) with a 2-Hz low-cut filter in the unilateral ulnar and tibial nerves were retrospectively investigated to assess whether each MNCS parameter demonstrated demyelinating features that fulfil the European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic (EFNS/PNS EDX) criteria for CIDP. 30688105

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The amyloid fibril in hereditary transthyretin (TTR) Val30Met (pVal50Met) amyloid (ATTR Val30Met) amyloidosis is composed of either a mixture of full-length and TTR fragments (Type A) or of only full-length TTR (Type B). 30811423

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE All three variants showed aberrant banding patterns that were similar to those of other well-characterized TTR variants, including the common Val30Met variant that causes ATTR amyloidosis. 31074293

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Late-onset hereditary ATTR V30M amyloidosis with polyneuropathy: Characterization of Brazilian subjects from the THAOS registry. 31163298

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Here, we present a 2.97 Å cryo electron microscopy structure of a fibril purified from the tissue of a patient with hereditary Val30Met ATTR amyloidosis. 31676763

2019

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Ten patients with biopsy-proven V30M ATTR amyloidosis and discrete or no signs of cardiac involvement were included. 27645889

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Of patients with ATTRV30M amyloidosis in endemic and non-endemic areas, and non-V30M ATTR amyloidosis, 63.6, 66.0, and 27.5% initially presented with polyneuropathy, respectively. 29177547

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage.TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms.Phenotypic and genetic variability and non-disease-specific symptoms often delay diagnosis and lead to misdiagnosis. 29343286

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease. 29357699

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Paced DB was performed during one minute (six breaths/min) in 165 recordings in adult ATTRm amyloidosis patients with the TTR Val30Met mutation, 42 hypertrophic cardiomyopathy (HCM) patients and 211 healthy subjects. 29394116

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE However, the ocular manifestations of amyloid deposition progressed despite tafamidis therapy in Val30Met TTR amyloidosis, and the effects of tafamidis on meningovascular amyloidosis are unknown. 29779881

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Distinct therapies for V30M TTR amyloidosis developed during the last decade exhibit promising results in slowing the peripheral and autonomic nervous system pathology. 29993288

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE In the Non-Val30Met group no differences were found between DR and FAP patients pre-LT. TTR-amyloidosis symptoms showed no differences in FAP patients pre- and 5 years post-LT, irrespective of Val30Met status. 30091268

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Anterior Chamber Flare as an Objective and Quantitative Noninvasive Method for Oculopathy in Transthyretin V30M Amyloidosis Patients. 30327725

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Why does ATTR Val30Met amyloidosis alone demonstrate foci of occurrence? 30486687

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation. 30572722

2018

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Patients were divided into three groups: 1- Val30Met with cardiac amyloidosis; 2-Val30Met with extracardiac amyloidosis; 3 - Val30Met without evidence of disease. 27992035

2017

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE We report on two elderly patients (an 80-year-old woman and an 83-year-old man) with progressive vitreous opacities (VOs) as the initial manifestation of hereditary transthyretin (ATTR Val30Met) carries, who had no evidence of systemic involvement or family history of amyloidosis and lived in non-endemic areas. 28085522

2017

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Hereditary ATTR V30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by deposition of aberrant transthyretin (TTR). 28539873

2017

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE The aim was to study the cognitive performance of ATTR-FAP V30M patients with long disease course. 28590781

2017

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE We analyzed the relationship between the occurrence of acquired amyloidosis and clinical features in 22 consecutive domino liver donors with hereditary TTR amyloidosis (10 males and 12 females; mean age at DLT: 37.2 years; TTR mutations: V30M [n = 19], Y114C [n = 1], L55P [n = 1], and S50I [n = 1]) and 22 liver recipients (16 males and 6 females; mean age at DLT, 46.2 years). 26600212

2016

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Long-term outcome of patients with hereditary transthyretin V30M amyloidosis with polyneuropathy after liver transplantation. 26763274

2016

dbSNP: rs28933979
rs28933979
TTR
0.100 GeneticVariation BEFREE Overall, our in vitro and in vivo studies establish an association between TTR V30M aggregates and autophagy impairment and suggest the use of autophagy modulators as an additional and alternative therapeutic approach for the treatment of TTR V30M-related amyloidosis. 27382986

2016