|
rs1022113606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings account for the discrepant risk associated with R213G in humans with lung diseases compared with cardiovascular diseases.
|
25085920 |
2014 |
|
rs1051730
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Multivariate logistic regression adjusting for gender, age, education, leisure-time physical activity, and personal history of cardiovascular or lung disease showed rs1051730 to be associated with higher smoking dependence (odds ratio [OR] and 95% CI for each additional A-allele: 1.38 [1.11-1.72] for smoking more than 20 cigarette equivalents/day; 1.31 [1.00-1.71] for an HSI ≥5 and 1.32 [1.05-1.65] for smoking 5 min after waking up) and borderline associated with difficulty to quit (OR = 1.29 [0.98-1.70]), but this relationship was no longer significant after adjusting for nicotine dependence.
|
21511889 |
2011 |
|
rs1078761
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We interrogated BPIFA1/BPIFB1 single-nucleotide polymorphisms in data from an association study of CF modifier genes and found an association of the G allele of rs1078761 with increased lung disease severity (P = 2.71 × 10(-4)).
|
25574903 |
2015 |
|
rs1130866
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Previous studies have indicated that a SP-B 1580C/T polymorphism (SNP rs1130866) was associated with lung diseases including pneumonia.
|
26620227 |
2016 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CT restaging confirmed clinical findings of deteriorating pulmonary disease; histological review revealed V600E BRAF mutation.
|
22744255 |
2012 |
|
rs113857788
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Q1352H appears to be strongly related to NTM lung disease susceptibility in the Korean population.
|
23514810 |
2013 |
|
rs1143634
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNPs rs1143634 and rs1143639 in the IL1B gene demonstrated a consistent association with lung disease severity categories (P < 0.10) and longitudinal analysis of lung disease severity (P < 0.10) in CF in both the case-control and family-based studies.
|
19431193 |
2009 |
|
rs1143639
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNPs rs1143634 and rs1143639 in the IL1B gene demonstrated a consistent association with lung disease severity categories (P < 0.10) and longitudinal analysis of lung disease severity (P < 0.10) in CF in both the case-control and family-based studies.
|
19431193 |
2009 |
|
rs11575934
|
|
|
0.010 |
GeneticVariation |
BEFREE |
When TB patients were divided into two subgroups according to the severity of lung disease, advanced subgroup showed a prominent association with 641A/G, 1094T/C and 1132C/G SNPs.
|
17284226 |
2007 |
|
rs121908757
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the extent and severity of lung disease associated with CFTR mutation S549R (T-->G).
|
10401194 |
1999 |
|
rs121909005
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the extent and severity of lung disease associated with CFTR mutation S549R (T-->G).
|
10401194 |
1999 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CT restaging confirmed clinical findings of deteriorating pulmonary disease; histological review revealed V600E BRAF mutation.
|
22744255 |
2012 |
|
rs121917834
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our results confirm that SFTPC mutations are a frequent cause of diffuse lung disease, and that I73T is the most frequent SFTPC mutation associated with diffuse lung disease.
|
19443464 |
2009 |
|
rs121917834
|
|
|
0.030 |
GeneticVariation |
BEFREE |
To test the hypothesis that ABCA3 mutations modify the severity of lung disease in individuals with SFTPC mutations, we sequenced ABCA3 from four symptomatic infants with the same SFTPC mutation, a substitution of isoleucine by threonine in codon 73 (I73T).
|
17597647 |
2007 |
|
rs121917834
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These findings support the hypothesis that the I73T mutation predisposes to or causes lung disease.
|
15756222 |
2005 |
|
rs1221395132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Spontaneous lung disease in STING N153S mice develops independently of type I interferon signaling and cGAS.
|
30772497 |
2019 |
|
rs1695
|
|
|
0.010 |
GeneticVariation |
BEFREE |
GSTP1 Ile105Val polymorphism in exon 5 was determined in 210 patients with asthma (112 extrinsic and 108 intrinsic) and 265 control individuals without lung diseases and without history of allergy or atopy, using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) techniques.
|
14748821 |
2004 |
|
rs17235409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygotes at intron 4 (469 + 14G/C) [INT4], codon 543 in exon 15 (D543N</span>), and 3' untranslated region (3'UTR) were observed at significantly higher frequencies in patients with NTM lung disease than in control subjects.
|
16002921 |
2005 |
|
rs17563161
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SLC26A9 was pleiotropic for meconium ileus and pancreatic damage (p = 0.002 at rs7512462), SLC9A3 for meconium ileus and lung disease (p = 1.5 × 10(-6) at rs17563161), and SLC6A14 for meconium ileus and both lung disease and age at first P. aeruginosa infection (p = 0.0002 and p = 0.006 at rs3788766, respectively).
|
24057835 |
2014 |
|
rs17580
|
|
|
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
|
|
|
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 |
|
rs1799895
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings account for the discrepant risk associated with R213G in humans with lung diseases compared with cardiovascular diseases.
|
25085920 |
2014 |
|
rs1800076
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate the role of p.Arg75Gln in idiopathic chronic pancreatitis (ICP), we performed genotyping of the CFTR gene in 880 patients with ICP, 198 patients with idiopathic bronchiectasis (IB), 74 patients with classical cystic fibrosis (CF), 48 patients with congenital bilateral absence of the vas deferens (CBAVD) and 148 healthy controls. p.Arg75Gln variant was identified in 3.3% (29/880) of patients with ICP, 3.3% (9/272) patients with a pulmonary disease, 2.1% (1/48) of patients with CBAVD and 4.7% (7/148) of healthy controls.
|
24451227 |
2014 |
|
rs193922500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We provide evidence that V456A can cause significant pulmonary disease in South Asian Cystic Fibrosis patients.
|
22395041 |
2012 |
|
rs1965708
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Humans express a repertoire of single-amino acid genetic variants of SP-A that may be associated with lung disease, and our findings demonstrate that allelic differences in SP-A2 (Gln223Lys) affect the binding to MMF.
|
25957169 |
2015 |