CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SN...
Ausführliche Beschreibung

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Autor*in:	Blaisdell, Carol J [verfasserIn] Howard, Timothy D Stern, Augustus Bamford, Penelope Bleecker, Eugene R Stine, O Colin

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2004

Schlagwörter:	Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Cystic Fibrosis Patient Cystic Fibrosis Lung Cystic Fibrosis Lung Disease

Anmerkung:	© Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:	Enthalten in: BMC medical genetics - London : BioMed Central, 2000, 5(2004), 1 vom: 26. Okt.
Übergeordnetes Werk:	volume:5 ; year:2004 ; number:1 ; day:26 ; month:10

Links:	Volltext

DOI / URN:	10.1186/1471-2350-5-26

Katalog-ID:	SPR027480232

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245	1	0	\|a CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
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520			\|a Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity.
650		4	\|a Cystic Fibrosis \|7 (dpeaa)DE-He213
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700	1		\|a Howard, Timothy D \|4 aut
700	1		\|a Stern, Augustus \|4 aut
700	1		\|a Bamford, Penelope \|4 aut
700	1		\|a Bleecker, Eugene R \|4 aut
700	1		\|a Stine, O Colin \|4 aut
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912			\|a GBV_ILN_24
912			\|a GBV_ILN_31
912			\|a GBV_ILN_39
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_65
912			\|a GBV_ILN_69
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_95
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_151
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_206
912			\|a GBV_ILN_213
912			\|a GBV_ILN_230
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_602
912			\|a GBV_ILN_702
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912			\|a GBV_ILN_2009
912			\|a GBV_ILN_2010
912			\|a GBV_ILN_2011
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2020
912			\|a GBV_ILN_2021
912			\|a GBV_ILN_2025
912			\|a GBV_ILN_2031
912			\|a GBV_ILN_2038
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2056
912			\|a GBV_ILN_2057
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2113
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_4012
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
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912			\|a GBV_ILN_4367
912			\|a GBV_ILN_4700
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Indexfelder

author_variant	c j b cj cjb t d h td tdh a s as p b pb e r b er erb o c s oc ocs
matchkey_str	article:14712350:2004----::l2igeuloieoyopimspaptniloiirocsif
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publishDate	2004
allfields	10.1186/1471-2350-5-26 doi (DE-627)SPR027480232 (SPR)1471-2350-5-26-e DE-627 ger DE-627 rakwb eng Blaisdell, Carol J verfasserin aut CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License ( Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. Cystic Fibrosis (dpeaa)DE-He213 Cystic Fibrosis Transmembrane Conductance Regulator (dpeaa)DE-He213 Cystic Fibrosis Patient (dpeaa)DE-He213 Cystic Fibrosis Lung (dpeaa)DE-He213 Cystic Fibrosis Lung Disease (dpeaa)DE-He213 Howard, Timothy D aut Stern, Augustus aut Bamford, Penelope aut Bleecker, Eugene R aut Stine, O Colin aut Enthalten in BMC medical genetics London : BioMed Central, 2000 5(2004), 1 vom: 26. Okt. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:5 year:2004 number:1 day:26 month:10 https://dx.doi.org/10.1186/1471-2350-5-26 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2004 1 26 10
spelling	10.1186/1471-2350-5-26 doi (DE-627)SPR027480232 (SPR)1471-2350-5-26-e DE-627 ger DE-627 rakwb eng Blaisdell, Carol J verfasserin aut CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License ( Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. Cystic Fibrosis (dpeaa)DE-He213 Cystic Fibrosis Transmembrane Conductance Regulator (dpeaa)DE-He213 Cystic Fibrosis Patient (dpeaa)DE-He213 Cystic Fibrosis Lung (dpeaa)DE-He213 Cystic Fibrosis Lung Disease (dpeaa)DE-He213 Howard, Timothy D aut Stern, Augustus aut Bamford, Penelope aut Bleecker, Eugene R aut Stine, O Colin aut Enthalten in BMC medical genetics London : BioMed Central, 2000 5(2004), 1 vom: 26. Okt. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:5 year:2004 number:1 day:26 month:10 https://dx.doi.org/10.1186/1471-2350-5-26 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2004 1 26 10
allfields_unstemmed	10.1186/1471-2350-5-26 doi (DE-627)SPR027480232 (SPR)1471-2350-5-26-e DE-627 ger DE-627 rakwb eng Blaisdell, Carol J verfasserin aut CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License ( Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. Cystic Fibrosis (dpeaa)DE-He213 Cystic Fibrosis Transmembrane Conductance Regulator (dpeaa)DE-He213 Cystic Fibrosis Patient (dpeaa)DE-He213 Cystic Fibrosis Lung (dpeaa)DE-He213 Cystic Fibrosis Lung Disease (dpeaa)DE-He213 Howard, Timothy D aut Stern, Augustus aut Bamford, Penelope aut Bleecker, Eugene R aut Stine, O Colin aut Enthalten in BMC medical genetics London : BioMed Central, 2000 5(2004), 1 vom: 26. Okt. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:5 year:2004 number:1 day:26 month:10 https://dx.doi.org/10.1186/1471-2350-5-26 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2004 1 26 10
allfieldsGer	10.1186/1471-2350-5-26 doi (DE-627)SPR027480232 (SPR)1471-2350-5-26-e DE-627 ger DE-627 rakwb eng Blaisdell, Carol J verfasserin aut CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License ( Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. Cystic Fibrosis (dpeaa)DE-He213 Cystic Fibrosis Transmembrane Conductance Regulator (dpeaa)DE-He213 Cystic Fibrosis Patient (dpeaa)DE-He213 Cystic Fibrosis Lung (dpeaa)DE-He213 Cystic Fibrosis Lung Disease (dpeaa)DE-He213 Howard, Timothy D aut Stern, Augustus aut Bamford, Penelope aut Bleecker, Eugene R aut Stine, O Colin aut Enthalten in BMC medical genetics London : BioMed Central, 2000 5(2004), 1 vom: 26. Okt. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:5 year:2004 number:1 day:26 month:10 https://dx.doi.org/10.1186/1471-2350-5-26 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2004 1 26 10
allfieldsSound	10.1186/1471-2350-5-26 doi (DE-627)SPR027480232 (SPR)1471-2350-5-26-e DE-627 ger DE-627 rakwb eng Blaisdell, Carol J verfasserin aut CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity 2004 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License ( Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. Cystic Fibrosis (dpeaa)DE-He213 Cystic Fibrosis Transmembrane Conductance Regulator (dpeaa)DE-He213 Cystic Fibrosis Patient (dpeaa)DE-He213 Cystic Fibrosis Lung (dpeaa)DE-He213 Cystic Fibrosis Lung Disease (dpeaa)DE-He213 Howard, Timothy D aut Stern, Augustus aut Bamford, Penelope aut Bleecker, Eugene R aut Stine, O Colin aut Enthalten in BMC medical genetics London : BioMed Central, 2000 5(2004), 1 vom: 26. Okt. (DE-627)326643788 (DE-600)2041359-2 1471-2350 nnns volume:5 year:2004 number:1 day:26 month:10 https://dx.doi.org/10.1186/1471-2350-5-26 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 5 2004 1 26 10
language	English
source	Enthalten in BMC medical genetics 5(2004), 1 vom: 26. Okt. volume:5 year:2004 number:1 day:26 month:10
sourceStr	Enthalten in BMC medical genetics 5(2004), 1 vom: 26. Okt. volume:5 year:2004 number:1 day:26 month:10
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Cystic Fibrosis Patient Cystic Fibrosis Lung Cystic Fibrosis Lung Disease
isfreeaccess_bool	false
container_title	BMC medical genetics
authorswithroles_txt_mv	Blaisdell, Carol J @@aut@@ Howard, Timothy D @@aut@@ Stern, Augustus @@aut@@ Bamford, Penelope @@aut@@ Bleecker, Eugene R @@aut@@ Stine, O Colin @@aut@@
publishDateDaySort_date	2004-10-26T00:00:00Z
hierarchy_top_id	326643788
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language_de	englisch
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author	Blaisdell, Carol J
spellingShingle	Blaisdell, Carol J misc Cystic Fibrosis misc Cystic Fibrosis Transmembrane Conductance Regulator misc Cystic Fibrosis Patient misc Cystic Fibrosis Lung misc Cystic Fibrosis Lung Disease CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
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topic_title	CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity Cystic Fibrosis (dpeaa)DE-He213 Cystic Fibrosis Transmembrane Conductance Regulator (dpeaa)DE-He213 Cystic Fibrosis Patient (dpeaa)DE-He213 Cystic Fibrosis Lung (dpeaa)DE-He213 Cystic Fibrosis Lung Disease (dpeaa)DE-He213
topic	misc Cystic Fibrosis misc Cystic Fibrosis Transmembrane Conductance Regulator misc Cystic Fibrosis Patient misc Cystic Fibrosis Lung misc Cystic Fibrosis Lung Disease
topic_unstemmed	misc Cystic Fibrosis misc Cystic Fibrosis Transmembrane Conductance Regulator misc Cystic Fibrosis Patient misc Cystic Fibrosis Lung misc Cystic Fibrosis Lung Disease
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title	CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
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title_full	CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
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title_sort	clc-2 single nucleotide polymorphisms (snps) as potential modifiers of cystic fibrosis disease severity
title_auth	CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
abstract	Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License (
abstractGer	Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License (
abstract_unstemmed	Background Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. The objectives of this study are to identify single nucleotide polymorphisms (SNPs) in the airway epithelial chloride channel, CLC-2, and correlate these polymorphisms with CF lung disease. Methods The CLC-2 promoter, intron 1 and exon 20 were examined for SNPs in adult CF dF508/dF508 homozygotes with mild and severe lung disease (forced expiratory volume at one second (FEV1) > 70% and < 40%). Results PCR amplification of genomic CLC-2 and sequence analysis revealed 1 polymorphism in the hClC -2 promoter, 4 in intron 1, and none in exon 20. Fisher's analysis within this data set, did not demonstrate a significant relationship between the severity of lung disease and SNPs in the CLC-2 gene. Conclusions CLC-2 is not a key modifier gene of CF lung phenotype. Further studies evaluating other phenotypes associated with CF may be useful in the future to assess the ability of CLC-2 to modify CF disease severity. © Blaisdell et al; licensee BioMed Central Ltd. 2004. This article is published under license to BioMed Central Ltd. This is an open-access article distributed under the terms of the Creative Commons Attribution License (
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title_short	CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity
url	https://dx.doi.org/10.1186/1471-2350-5-26
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Nicht das Richtige dabei?