|
rs28929474
|
SERPINA1
|
Adult Liver Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
According to retrospective studies, up to 25% of those with homozygous ZZ (Glu 342 to Lys) AATD suffer from liver cirrhosis and/or liver cancer in late adulthood.
|
21617532 |
2011 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The Z allele (Glu342Lys) in α1-antitrypsin (AAT) deficiency is a combined deficiency and dysfunctional allele.
|
23660934 |
2013 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states.
|
28668972 |
2017 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states.
|
27296815 |
2016 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Here we show that a combination of zinc finger nucleases (ZFNs) and piggyBac technology in human iPSCs can achieve biallelic correction of a point mutation (Glu342Lys) in the α(1)-antitrypsin (A1AT, also known as SERPINA1) gene that is responsible for α(1)-antitrypsin deficiency.
|
21993621 |
2011 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Findings were mostly negative but lung function in SERPINA1 (protease inhibitor (PI) Z allele, rs28929474) showed enhanced FEV1 and FVC (0.13 z-score increase in FEV1 (p=1.7 × 10(-5)) and 0.16 z-score increase in FVC (p=5.2 × 10(-8))) in PI-MZ individuals.
|
26831755 |
2016 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the Pi*Z mutation, Pi*ZZ genotype).
|
31121167 |
2019 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The Z mutation (Glu342Lys) accounts for the majority of cases of severe α(1)-antitrypsin deficiency.
|
21426261 |
2011 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The PiZ transgenic mouse strain expresses a human AAT (hAAT) transgene that contains the AATD-associated Glu342Lys mutation.
|
24355919 |
2014 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The majority of AATD cases are caused by the 'Z' and 'S' variants - single-nucleotide variations (SNVs) that result in amino acid substitutions of E342K and E264V.
|
31307431 |
2019 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD.
|
25454901 |
2015 |
|
rs28929474
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.800 |
GeneticVariation |
BEFREE |
An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD).
|
22621770 |
2012 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.750 |
GeneticVariation |
BEFREE |
Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states.
|
28668972 |
2017 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.750 |
GeneticVariation |
BEFREE |
The PiZ (rs28929474) and PiS (rs17580) variants are believed to cause severe AAT deficiency and are linked to a high risk of developing COPD.
|
25454901 |
2015 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.750 |
GeneticVariation |
BEFREE |
Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states.
|
27296815 |
2016 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.750 |
GeneticVariation |
BEFREE |
The majority of AATD cases are caused by the 'Z' and 'S' variants - single-nucleotide variations (SNVs) that result in amino acid substitutions of E342K and E264V.
|
31307431 |
2019 |
|
rs17580
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.750 |
GeneticVariation |
BEFREE |
Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion.
|
2567291 |
1989 |
|
rs11558261
|
SERPINA1
|
alpha 1-Antitrypsin Deficiency
|
|
0.710 |
GeneticVariation |
BEFREE |
Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).
|
2227940 |
1990 |
|
rs28929474
|
SERPINA1
|
Asthma
|
|
0.010 |
GeneticVariation |
BEFREE |
Only rs28929474, the most common pathologic SNP (Pi*Z) in the SERPINA1 gene, might be associated with a risk of developing school-age asthma without exhibiting preschool wheeze.
|
31298815 |
2019 |
|
rs709932
|
SERPINA1
|
Avellino corneal dystrophy
|
|
0.010 |
GeneticVariation |
BEFREE |
The R124H mutation of the keratoepithelin gene (TGFBI) causes Avellino corneal dystrophy whereas the N544S mutation of this same gene gives rise to lattice corneal dystrophy.
|
19461933 |
2009 |
|
rs121912713
|
SERPINA1
|
Blood Coagulation Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
|
1569192 |
1992 |
|
rs6647
|
SERPINA1
|
Bronchiectasis
|
|
0.010 |
GeneticVariation |
BEFREE |
For the SERPINA1 gene a statistically significant difference in the frequency was found for heterozygotes for p.V213A between DB patients and healthy smokers (44.1% vs. 26.4% respectively; p=0.035) and for heterozygotes for c.1237G>A between DB patients and general population subjects (10.2% vs. 25.4% respectively; p=0.023).
|
19747908 |
2010 |
|
rs28929474
|
SERPINA1
|
Cholangiocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
rs28929474 was significantly enriched in the cholangiocarcinoma group (4.1 vs. 1.7%; OR 2.46, 95% CI 1.14-5.32; Bonferroni corrected p(c) = 0.036), reinforced by Armitage trend testing (OR 2.53; p(c) = 0.032).
|
21138453 |
2011 |
|
rs8004738
|
SERPINA1
|
Cholangiocarcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the 'common' Z and S alleles as well as the promoter variant rs8004738 for association with cholangiocarcinoma.
|
21138453 |
2011 |
|
rs28929474
|
SERPINA1
|
Cholelithiasis
|
|
0.010 |
GeneticVariation |
BEFREE |
Five of the gallstone associations are protein-altering variants, and three (HNF4A p.Thr139Ile, SERPINA1 p.Glu366Lys, and SLC10A2 p.Pro290Ser) conferred per-allele odds ratios for gallstone disease of 1.30-1.36.
|
30325047 |
2019 |