|
rs78655421
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The "mild" gene variant, p.Arg117His in cystic fibrosis (CF) results in highly variable phenotypes ranging from male infertility to severe lung disease.
|
30279124 |
2019 |
|
rs78655421
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We present a case demonstrating a substantial therapeutic effect of ivacaftor in a CF patient with genotype F508del/R117H and advanced lung disease.
|
25698453 |
2015 |
|
rs78655421
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease.
|
16266832 |
2006 |
|
rs78655421
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The 5T allele in intron 8 (IVS8) causes abnormal splicing in the CFTR gene, and is associated with lung disease when it occurs in cis with a missense mutation in the CFTR gene, R117H.
|
11069835 |
2000 |
|
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 |
|
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 |
|
rs75527207
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Ivacaftor caused marked reductions in sputum P. aeruginosa density and airway inflammation and produced modest improvements in radiographic lung disease in subjects with G551D-CFTR mutations.
|
28222269 |
2017 |
|
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 |
|
rs74551128
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Although several mutations are known to be associated with less severe pancreatic disease, our findings demonstrate a correlation between the A455E mutation and mild pulmonary disease.
|
7539891 |
1995 |
|
rs74551128
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Both G551D, a mutation that causes severe lung disease, and A455E, a mutation associated with mild lung disease, altered but did not abolish CFTR's function as a chloride channel in Xenopus oocytes.
|
7542778 |
1995 |
|
rs75527207
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Both G551D, a mutation that causes severe lung disease, and A455E, a mutation associated with mild lung disease, altered but did not abolish CFTR's function as a chloride channel in Xenopus oocytes.
|
7542778 |
1995 |
|
rs1221395132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Spontaneous lung disease in STING N153S mice develops independently of type I interferon signaling and cGAS.
|
30772497 |
2019 |
|
rs2070600
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The rs2070600 SNP may be associated with the development of human autoimmune disease, diabetes complications, cancer, and lung diseases such as chronic obstructive pulmonary disease and acute respiratory distress syndrome.
|
30863465 |
2019 |
|
rs35169799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To identify novel antiinflammatory molecular targets, we previously performed a genetic study of 135 genes of the immune response, which identified the c.2534C>T (p.S845L) variant of phospholipase C-β3 (PLCB3) as being significantly associated with mild progression of pulmonary disease.
|
29668297 |
2018 |
|
rs4680
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MATERIAL AND METHODS The XRCC1 gene T-77C, Arg194Trp, Arg280His, Arg399Gln, COMT gene 186C>T, and Val158Met mutations were evaluated in peripheral blood collected from 261 non-smoking female patients diagnosed with primary lung cancer and 265 female patients with benign lung disease.
|
30109864 |
2018 |
|
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 |
|
rs2227306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The severity of lung disease was associated with the following markers: transcutaneous arterial hemoglobin oxygen saturation (SaO2) (regardless of CFTR genotype, for the polymorphisms rs4073, rs2227306 and rs2227307); mucoid Pseudomonas aeruginosa (regardless of CFTR genotype, for the polymorphisms rs2227306 and rs2227307).
|
27209008 |
2016 |
|
rs2227307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The severity of lung disease was associated with the following markers: transcutaneous arterial hemoglobin oxygen saturation (SaO2) (regardless of CFTR genotype, for the polymorphisms rs4073, rs2227306 and rs2227307); mucoid Pseudomonas aeruginosa (regardless of CFTR genotype, for the polymorphisms rs2227306 and rs2227307).
|
27209008 |
2016 |
|
rs4073
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The severity of lung disease was associated with the following markers: transcutaneous arterial hemoglobin oxygen saturation (SaO2) (regardless of CFTR genotype, for the polymorphisms rs4073, rs2227306 and rs2227307); mucoid Pseudomonas aeruginosa (regardless of CFTR genotype, for the polymorphisms rs2227306 and rs2227307).
|
27209008 |
2016 |
|
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 |
|
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 |
|
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 |
|
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 |