|
rs397508638
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We classify N1303K as a "severe" mutation with respect to the pancreas, but can find no correlation between this mutation, in either the homozygous or heterozygous state, and the severity of lung disease.
|
1380943 |
1992 |
|
rs74767530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.
|
1381442 |
1992 |
|
rs80034486
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We classify N1303K as a "severe" mutation with respect to the pancreas, but can find no correlation between this mutation, in either the homozygous or heterozygous state, and the severity of lung disease.
|
1380943 |
1992 |
|
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 |
|
rs77932196
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.
|
8535440 |
1995 |
|
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 |
|
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 |
|
rs213950
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These data suggest that the 5T polythymidine tract sequence on specific haplotype backgrounds (TG12 and M470V) may cause a low level of full-length functional CFTR protein and CF-like lung disease.
|
11069835 |
2000 |
|
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 |
|
rs121917834
|
|
|
0.030 |
GeneticVariation |
BEFREE |
These findings support the hypothesis that the I73T mutation predisposes to or causes lung disease.
|
15756222 |
2005 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs772717932
|
|
|
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 |
|
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 |
|
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 |
|
rs764491141
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although patients presenting the TT genotype of the C159T polymorphism in the CD14 gene predominated, there was no significant difference regarding lung disease severity.
|
19466271 |
2009 |
|
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 |
|
rs28929474
|
|
|
0.010 |
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 |
|
rs721917
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated the influence of the SP-D Met11Thr polymorphism on CF lung function; and serum SP-D as a marker for CF lung disease.
|
20457545 |
2010 |