|
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 |
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 diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
Clinically relevant mutations in the SERPINA1 gene, such as Z (Glu342Lys), results in an expression of misfolded AAT protein having high propensity to polymerize, accumulate in hepatocytes and thus to enhance a risk for hepatocyte damage and subsequent liver disease.
|
31832977 |
2020 |
|
rs17580
|
SERPINA1
|
Liver Cirrhosis
|
|
0.020 |
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 |
|
rs17580
|
SERPINA1
|
Liver Cirrhosis
|
|
0.020 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
rs28929474
|
SERPINA1
|
Liver diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
rs17580
|
SERPINA1
|
Lung diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
Increased risk of liver and lung disease has also been reported in heterozygous subjects who carry Z in association with the milder S allele (Glu264Val) or even with wild-type M. However, it is unknown whether Z AAT can co-polymerize with other AAT variants in vivo.
|
29538751 |
2018 |
|
rs17580
|
SERPINA1
|
Lung diseases
|
|
0.020 |
GeneticVariation |
BEFREE |
Alpha-1 antitrypsin (A1AT) deficiency, caused by the Z allele (p.E342K) and S allele (p.E264V) in the SERPINA1 gene, can induce liver and pulmonary disease.
|
20170533 |
2010 |
|
rs121912712
|
SERPINA1
|
Pulmonary Emphysema
|
|
0.010 |
GeneticVariation |
BEFREE |
In human α1-antitrypsin deficiency, homozygous carriers of the Z (E324K) mutation in the gene SERPINA1 have insufficient circulating α1-antitrypsin and are predisposed to emphysema.
|
31091192 |
2019 |
|
rs17580
|
SERPINA1
|
Esophageal Varices
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
rs17580
|
SERPINA1
|
Portal Hypertension
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
rs17580
|
SERPINA1
|
Liver diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
rs17580
|
SERPINA1
|
Cirrhosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
rs28929474
|
SERPINA1
|
Wheezing
|
|
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 |
|
rs28929474
|
SERPINA1
|
Cirrhosis
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
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 |
|
rs28929474
|
SERPINA1
|
Esophageal Varices
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
rs28929474
|
SERPINA1
|
Portal Hypertension
|
|
0.010 |
GeneticVariation |
BEFREE |
The associations of SERPINA1 Z (rs28929474) and S (rs17580) alleles with age at CFLD onset and the development of CFLD-related complications (severe liver disease with cirrhosis, portal hypertension, esophageal varices) were analyzed.
|
30739910 |
2019 |
|
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 |
|
rs1051052
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
rs1243166, rs9944155, and rs1051052</span> sites of Alpha-1-AT may be associated with the COPD morbidity in Uygur population.
|
29521291 |
2018 |
|
rs1243166
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
While rs1243166-G allele and rs1051052-G allele are associated with an increased risk of developing COPD, rs9944155-G allele is a protect locus in Uygur population.
|
29521291 |
2018 |
|
rs9944155
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
However, individuals with rs9944155-G allele exhibited a lower risk of COPD than those carrying the rs9944155-A allele (OR = 0.121, 95% CI: 0.070-0.209, P < 0.001).
|
29521291 |
2018 |
|
rs1243160
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP rs8004738 genotype was associated with a significantly higher risk for COPD (odds ratio (OR) =1.835, 95% confidence interval (CI): 1.002-3.360), whereas SNPs rs1243160 and rs2854254 did not exhibit such an association.
|
28138235 |
2017 |
|
rs2854254
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP rs8004738 genotype was associated with a significantly higher risk for COPD (odds ratio (OR) =1.835, 95% confidence interval (CI): 1.002-3.360), whereas SNPs rs1243160 and rs2854254 did not exhibit such an association.
|
28138235 |
2017 |
|
rs8004738
|
SERPINA1
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
SNP rs8004738 of <i>SERPINA1</i> gene significantly interacted with smoking status and was associated with a higher risk for COPD in the Chinese population.
|
28138235 |
2017 |