The TNFα receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis

Human Genetics

Volumn 119, Issue 3, 2006, Pages 331-343

  Stanke, Frauke ^a   Becker, Tim ^b   Cuppens, Harry ^c   Kumar, Vinod ^a   Cassiman, Jean Jacques ^c   Jansen, Silke ^a   Radojkovic, Dragica ^c,d   Siebert, Benny ^a   Yarden, Jennifer ^c   Ussery, David W ^e   Wienker, Thomas F ^b   Tümmler, Burkhard ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d INSTITUTE OF MOLECULAR GENETICS AND GENETIC ENGINEERING   (Serbia)

^e TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

Author keywords

Amiloride sensitive epithelial sodium channel; Association study; Cystic fibrosis; Modulating gene; Survivor effect; TNFalphare ceptor

Indexed keywords

AMILORIDE; SODIUM CHANNEL; TRANSMEMBRANE CONDUCTANCE REGULATOR; TUMOR NECROSIS FACTOR ALPHA RECEPTOR; EPITHELIAL SODIUM CHANNEL; SCNN1A PROTEIN, HUMAN; TNFRSF1A PROTEIN, HUMAN; TUMOR NECROSIS FACTOR RECEPTOR 1;

ALLELE; ARTICLE; CHROMOSOME 12P; CHROMOSOME 16P; CHRONIC INFLAMMATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HOST RESISTANCE; HUMAN; INTRON; LUNG DISEASE; MORBIDITY; MORTALITY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RESPIRATORY TRACT INFECTION; RESPIRATORY TRACT INFLAMMATION; SEQUENCE ANALYSIS; SIBLING; SODIUM TRANSPORT; TWINS; ADOLESCENT; ADULT; CHROMOSOME 12; CHROMOSOME 16; DNA SEQUENCE; FAMILY; FEMALE; GENE FREQUENCY; GENETICS; MALE; MIDDLE AGED; PHYSIOLOGY;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 16; CYSTIC FIBROSIS; EPITHELIAL SODIUM CHANNEL; FAMILY; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; RECEPTORS, TUMOR NECROSIS FACTOR, TYPE I; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 33644992341     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0140-2     Document Type: Article

References (66)

1. Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL (2001) The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 69:301-314
2. Baens M, Aerssens J, van Zand K, Van den Berghe H, Marynen P (1995) Isolation and regional assignment of human chromosome 12p cDNAs. Genomics 29:44-52
3. Baldi P, Brunak S, Chauvin Y, Krogh A (1996). Naturally occurring nucleosome positioning signals in human exons and introns. J Mol Biol 263:503-510
4. Barker PM, Gowen CW, Lawson EE, Knowles MR (1997) Decreased sodium ion absorption across nasal epithelium of very premature infants with respiratory distress syndrome. J Pediatr 130:373-377
5. Barker PM, Nguyen MS, Gatzy JT, Grubb B, Norman H, Hummler E, Rossier B, Boucher RC, Koller B (1998) Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice Insights into perinatal adaptation and pseudohypoaldosteronism. J Clin Invest 102:1634-1640
6. Becker T, Knapp M (2004a) Maximum-likelihood estimation of haplotype frequencies in nuclear families. Genet Epidemiol 27:21-32
7. Becker T, Knapp M (2004b) A powerful strategy to account for multiple testing in the context of haplotype analysis. Am J Hum Genet 75:561-570
8. Becker T, Cichon S, Jönson E, Knapp M (2005) Multiple testing in the context of haplotype analysis revisited: Application to case-control data. Ann Hum Genet 69:747-756
9. Boucher RC (2004) New concepts of the pathogenesis of cystic fibrosis lung disease. Eur Respir J 23:146-158
10. Brukner I, Sanchez R, Suck D, Pongor S (1995a) Sequence-dependent bending propensity of DNA as revealed by DNase I: Parameters for trinucleotides. EMBO J 14:1812-1818
11. Brukner I, Sanchez R, Suck D, Pongor S (1995b) Trinucleotide models for DNA bending propensity: Comparison of models based on DNaseI digestion and nucleosome packaging data. J Biomol Struct Dyn 132:309-317
12. Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP (1996) Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 12:248-253
13. Corey M, Farewell V (1996) Determinants of mortality from cystic fibrosis in Canada, 1970-1989. Am J Epidemiol 143:1007-1017
14. Cornelis F, Faure S, Martinez M, Prud'homme JF, Fritz P, Dib C, Alves H, Barrera P, de Vries N, Balsa A, Pascual-Salcedo D, Maenaut K, Westhovens R, Migliorini P, Tran TH, Delaye A, Prince N, Lefevre C, Thomas G, Poirier M, Soubigou S, Alibert O, Lasbleiz S, Fouix S, Bouchier C, Liote F, Loste MN, Lepage V, Charron D, Gyapay G, Lopes-Vaz A, Kuntz D, Bardin T, Weissenbach J, ECRAF (1998) New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci USA 95:10746-10750
15. Cutting GR (2005) Modifier genetics: Cystic fibrosis. Annu Rev Genomics Hum Genet 6:237-260
16. Dagenais A, Gosselin D, Guilbault C, Radzioch D, Berthiaume Y (2005) Modulation of epithelial sodium channel (ENaC) expression in mouse lung infected with Pseudomonas aeruginosa. Respir Res 6:2
17. Dieude P, Osorio J, Petit-Teixeira E, Moreno S, Garnier S, Cailleau-Moindrault S, Stalens C, Lasbleiz S, Bardin T, Prum B, Cornelis F; European Consortium on Rheumatoid Arthritis Families (2004) A TNFR1 genotype with a protective role in familial rheumatoid arthritis. Arthritis Rheum 50:413-419
18. Dolan CV, Boomsma DI (1998) Optimal selection of sib pairs from random samples for linkage analysis of a QTL using the EDAC test. Behav Genet 28:197-206
19. Eaves L, Meyer J (1994) Locating human quantitative trait loci: guidelines for the selection of sibling pairs for genotyping. Behav Genet 24:443-455
20. Eidelman O, Srivastava M, Zhang J, Leighton X, Murtie J, Jozwik C, Jacobson K, Weinstein DL, Metcalf EL, Pollard HB (2001) Control of the proinflammatory state in cystic fibrosis lung epithelial cells by genes from the TNF-αR/NFκB pathway. Mol Med 7:523-534
21. European Working Group on Cystic Fibrosis Genetics (1990) Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum Genet 85:436-445
22. Fitzgerald DJ, Dryden GL, Bronson EC, Williams JS, Anderson JN (1994) Conserved patterns of bending in satellite and nucleosome positioning DNA. J Biol Chem 269:21303-21314
23. Fuchs P, Strehl S, Dworzak M, Himmler A, Ambros PF (1992) Structure of the human TNF receptor 1 (p60) gene (TNFR1) and localization to chromosome 12p13. Genomics 13:219-224
24. Goss CH, Rosenfeld M (2004) Update on cystic fibrosis epidemiology. Curr Opin Pulm Med 10:510-514
25. Gross-Bellard M, Dudet P, Chambon P (1973) Isolation of high molecular weight DNA from mammalian cells. Eur J Biochem 36:32-38
26. Hallin PF, Ussery DW (2004) CBS Genome Atlas Database: A dynamic storage for bioinformatic results and sequence data. Bioinformatics 20:3682-3686
27. Hanukoglu A, Bistritzer T, Rakover Y, Mandelberg A (1994) Pseudohypoaldosteronism with increased sweat and saliva electrolyte values and frequent lower respiratory tract infections mimicking cystic fibrosis. J Pediatr 125:752-755
28. Helve O, Pitkanen OM, Andersson S, O'Brodovich H, Kirjavainen T, Otulakowski G (2004) Low expression of human epithelial sodium channel in airway epithelium of preterm infants with respiratory distress. Pediatrics 113:1267-1272
29. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL (2002) The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder. Medicine 81:349-368
30. International Human Genome Sequencing Consortium (2004) Finishing the euchromatic sequence of the human genome. Nature 431:931-945
31. Jawaheer D, Seldin MF, Amos CI, Chen WV, Shigeta R, Monteiro J, Kern M, Criswell LA, Albani S, Nelson JL, Clegg DO, Pope R, Schroeder HW Jr, Bridges SL Jr, Pisetsky DS, Ward R, Kastner DL, Wilder RL, Pincus T, Callahan LF, Flemming D, Wener MH, Gregersen PK (2001) A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. Am J Hum Genet 68:927-936
32. Ji HL, Chalfant ML, Jovov B, Lockhart JP, Parker SB, Fuller CM, Stanton BA, Benos DJ (2000) The cytosolic termini of the beta- and gamma-ENaC subunits are involved in the functional interactions between cystic fibrosis transmembrane conductance regulator and epithelial sodium channel. J Biol Chem 275:27947-27956
33. Johannsen HK, Nir M, Hoiby N, Koch C, Schwartz M (1991) Severity of cystic fibrosis in patients homozygous and heterozygous for the delatF508 mutation. Lancet 337:631-634
34. Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, Tsui LC, Durie P (1990) The relationship between genotype and phenotype in cystic fibrosis - analysis of the most common mutation (deltaF508). N Engl J Med 323:1517-1522
35. Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, MacLaughlin E, Barker P, Nash M, Quittell L, Boucher R, Knowles MR (1999) Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 341:156-162
36. Knapp M, Becker T (2003) Family-based association analysis with tightly linked markers. Hum Hered 56:2-9
37. Knorre A, Wagner M, Schaefer HE, Colledge WH, Pahl HL (2002) DeltaF508-CFTR causes constitutive NF-κB activation through an ER-overload response in cystic fibrosis lungs. Biol Chem 383:271-282
38. Lewontin RC (1964) The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49:49-67
39. Liou TG, Adler FR, FitzSimmons SC, Cahill BC, Hibbs JR, Marshall BC (2001) Prediction of 5-year survivorship model of cystic fibrosis. Am J Epidemiol 153:345-352
40. Littlewood JM (2000) Good care for people with cystic fibrosis. Paediatr Respir Rev 1:179-89
41. MacKay K, Eyre S, Myerscough A, Milicic A, Barton A, Laval S, Barrett J, Lee D, White S, John S, Brown MA, Bell J, Silman A, Ollier W, Wordsworth P, Worthington J (2002) Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom. Arthritis Rheum 46:632-639
42. Mall M, Grubb BR, Harkema JR, O'Neal WK, Boucher RC (2004) Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice. Nat Med 10:487-493
43. Marthinsen L, Kornfalt R, Aili M, Andersson D, Westgren U, Schaedel C (1998) Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type I pseudohypoaldosteronism. Acta Paediatr 87:472-474
44. Mekus F, Dörk T, DeufeM T, Morral N, Tümmler B (1995) Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection. Electrophoresis 16:1886-1888
45. Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tümmler B (2000) Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res 3:277-293
46. Mekus F, Laabs U, Veeze H, Tümmler B (2003) Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs. Hum Genet 112:1-11
47. Pradervand S, Barker PM, Wang Q, Ernst SA, Beermann F, Grubb BR, Burnier M, Schmidt A, Bindels RJ, Gatzy JT, Rossier BC, Hummler E (1999) Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Proc Natl Acad Sci USA 96:1732-1737
48. Risch N, Zhang H (1995) Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science 268:1584-1589
49. Rommens J, Kerem BS, Greer W, Chang P, Tsui LC, Ray P (1990) Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet 46:395-396
50. Rossier BC, Pradervand S, Schild L, Hummler E (2002) Epithelial sodium channel and the control of sodium balance: Interaction between genetic and environmental factors. Annu Rev Physiol 64:877-897
51. Santis G, Osborne L, Knight RA, Hodson ME (1990) Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis. Lancet 336:1081-1084
52. Scherrer U, Sartori C, Lepori M, Allemann Y, Duplain H, Trueb L, Nicod P (1999) High-altitude pulmonary edema: From exaggerated pulmonary hypertension to a defect in transepithelial sodium transport. Adv Exp Med Biol 474:93-107
53. Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW, Canessa CM, Rossier BC, Lifton RP (1994) Liddle's syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 79:407-414
54. Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
55. Strautnieks SS, Thompson RJ, Hanukoglu A, Dillon MJ, Hanukoglu I, Kuhnle U, Seckl J, Gardiner RM, Chung E (1996) Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum Mol Genet 5:293-299
56. Tabary O, Escotte S, Couetil JP, Hubert D, Dusser D, Puchelle E, Jacquot J (2001) Relationship between IκBα deficiency, NFκB activity and interleukin-8 production in CF human airway epithelial cells. Pflügers Arch 443(Suppl 1):S40-S44
57. Talbot CL, Bosworth DG, Briley EL, Fenstermacher DA, Boucher RC, Gabriel SE, Barker PM (1999) Quantitation and localization of ENaC subunit expression in fetal, newborn, and adult mouse lung. Am J Respir Cell Mol Biol 20:398-406
58. Thomas CP, Zhou J, Liu KZ, Mick VE, MacLaughlin E, Knowles M (2002a) Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial Na(+) channel subunit. Am J Respir Cell Mol Biol 27:314-319
59. Thomas CP, Loftus RW, Liu KZ, Itani OA (2002b) Genomic organization of the 5′ end of human beta-ENaC and preliminary characterization of its promoter. Am J Physiol Renal Physiol 282:F898-F909
60. Thomas CP, Zhou J, Liu KZ, Mick VE, MacLaughlin E, Knowles M (2004) Gene symbol: SCNN1B. Disease: Pseudohypoaldosteronism, type 1. Hum Genet 114:402
61. Tümmler B, Kiewitz C (1999) CysAic fibrosis: an inherited susceptibility to bacterial respiratory infections. Mol Med Today 5:351-358
62. Vankeerberghen A, Cuppens H, Cassiman JJ (2002) The cystic fibrosis transmembrane conductance regulator: An intriguing protein with pleiotropic functions. J Cyst Fibros 1:13-29
63. Varfolomeev EE, Ashkenazi A (2004) Tumor necrosis factor: An apoptosis JuNKie? Cell 116:491-497
64. Voilley N, Bassilana F, Mignon C, Merscher S, Mattei MG, Carle GF, Lazdunski M, Barbry P (1995) Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. Genomics 28:560-565
65. Wajant H, Pfizenmaier K, Scheurich P (2003) Tumor necrosis factor signaling. Cell Death Differ 10:45-65
66. Welsh MJ, Tsui LC, Boat TF, Beaudet AL (1995) Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 3799-3876