|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
<b>Background:</b> African-Americans (AAs) have a 3.5% carrier prevalence of <i>Transthyretin</i> (<i>TTR</i>) Val122Ile mutation (rs76992529), which is the genetic cause of a hereditary form of amyloidosis.
|
30813263 |
2019 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis.
|
18729067 |
2008 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Amyloidosis was confirmed by renal biopsy in only two of these cases who were homozygous for M694V and compound heterozygous for M694V/M680I.
|
28828621 |
2018 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V homozygocity, male gender and the alpha/alpha genotype of serum amyloid A1 gene are the currently established risk factors for development of amyloidosis.
|
16283319 |
2006 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis.
|
19777236 |
2010 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V was observed in severe disease and in patients with amyloidosis.
|
20151816 |
2010 |
|
rs4149584
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R92Q was not found in patients unresponsive to colchicine, nor was it found in patients with amyloidosis or in patients with FMF-like disease without MEFV mutations.
|
20506103 |
2010 |
|
rs1294297409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
|
25644864 |
2015 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
|
27791951 |
2017 |
|
rs1217777010
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Glu34Lys is the only known charge inversion mutation in apoA-I that causes human amyloidosis.
|
30184436 |
2018 |
|
rs104894664
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation.
|
16690499 |
2006 |
|
rs76992529
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A high prevalence of some mutations like Val122Ile which is identified in 3% of African Americans indicates the necessity of thorough investigation of patients suspected of having, or to be at risk of developing, TTR amyloidosis.
|
12553428 |
2002 |
|
rs121918068
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A novel single mutation (Phe33Ile) in a case of FAP with vitreous amyloidosis from India is reported.
|
28412068 |
2017 |
|
rs1335856860
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.
|
26828956 |
2016 |
|
rs933476040
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.
|
26828956 |
2016 |
|
rs61752717
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A significant association was found between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR = 1.41, P = 0.02).
|
10234504 |
1999 |
|
rs28933979
|
|
|
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 |
|
rs763852444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Alteration of this ASID by deletion or mutation, as is seen with the Flemish mutation (A21G), reduces its inhibitory potency and promotes Agamma production.
|
20062056 |
2010 |
|
rs121909715
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis.
|
10744159 |
2000 |
|
rs79977247
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although not described previously, elevated IOP may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene.
|
17980738 |
2007 |
|
rs28933979
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Although CTS associated with TTR amyloidosis has been known as an initial symptom in some patients with ATTR non-Val30Met FAP and those with senile systemic amyloidosis, this is the first report of ATTR Val30Met FAP patients starting with upper limb neuropathy including CTS-like symptoms.
|
20132088 |
2010 |
|
rs121918068
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although there are approximately 100 known TTR variants associated with peripheral neuropathy, in Israel only one patient with familial amyloid polyneuropathy (FAP), a patient of Ashkenazi origin with ATTR due to an F33I mutation, has been reported so far.
|
17484624 |
2007 |
|
rs1800973
|
|
|
0.020 |
GeneticVariation |
BEFREE |
ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene.
|
16329101 |
2006 |
|
rs1454603223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene.
|
16329101 |
2006 |
|
rs6265
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Among Aβ+ women, ε4 carriers reported greater anxiety symptoms than non-ε4 carriers (d = 0.83), and female BDNF rs6265 Val66 Met allele carriers reported greater depressive symptoms (d = 0.29).
|
27742526 |
2016 |