|
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 |
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 |
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 |
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 |
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 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 |
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 |
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 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 |
An important fraction of COPD cases harbor a major genetic determinant, inherited ZZ (Glu342Lys) α1-antitrypsin deficiency (AATD).
|
22621770 |
2012 |
|
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 |
|
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 |
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 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 |
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 |
|
rs28929474
|
SERPINA1
|
Pulmonary Emphysema
|
|
0.730 |
GeneticVariation |
BEFREE |
Severe α1-antitrypsin deficiency caused by the Z variant (Glu342Lys; ZZ-AT) is a well-known genetic cause for emphysema.
|
24592811 |
2014 |
|
rs28929474
|
SERPINA1
|
Pulmonary Emphysema
|
|
0.730 |
GeneticVariation |
BEFREE |
The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes.
|
27246852 |
2016 |
|
rs28929474
|
SERPINA1
|
Pulmonary Emphysema
|
|
0.730 |
GeneticVariation |
BEFREE |
The main goal of the therapy with purified human plasma alpha1-antitrypsin (A1AT) is to increase A1AT levels and to prevent lungs from elastolytic activity in patients with PiZZ (Glu342Lys) A1AT deficiency-related emphysema.
|
28486562 |
2017 |
|
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 |
|
rs17580
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.710 |
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
|
Chronic Obstructive Airway Disease
|
|
0.710 |
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
|
Liver Cirrhosis
|
|
0.050 |
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
|
Liver Cirrhosis
|
|
0.050 |
GeneticVariation |
BEFREE |
The Z variant (Glu342Lys) of α(1)-antitrypsin (AT) polymerizes and accumulates in the hepatocyte endoplasmic reticulum (ER) predisposing to neonatal hepatitis and liver cirrhosis.
|
22425623 |
2012 |
|
rs28929474
|
SERPINA1
|
Liver Cirrhosis
|
|
0.050 |
GeneticVariation |
BEFREE |
Two single nucleotide polymorphisms (SNPs) in SERPINA1 (Pi*Z rs28929474 and Pi*S rs17580) are risk factors for developing liver cirrhosis.
|
31517326 |
2019 |