ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis

American Journal of Human Genetics

Volumn 79, Issue 1, 2006, Pages 149-154

  Hodgson, Ulla ^a,b   Pulkkinen, Ville ^a,b   Dixon, Morag ^b   Peyrard Janvid, Myriam ^d   Rehn, Marko ^c   Lahermo, Päivi ^b   Ollikainen, Vesa ^b   Salmenkivi, Kaisa ^a,b   Kinnula, Vuokko ^a   Kere, Juha ^b,d   Tukiainen, Pentti ^a   Laitinen, Tarja ^b  

^a HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c GeneOS Ltd   (Finland)

^d KAROLINSKA INSTITUTE   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

CALMEGIN; UNCLASSIFIED DRUG; UNCOUPLING PROTEIN 1;

ARTICLE; CONTROLLED STUDY; ELMOD2 GENE; FAMILIAL DISEASE; GENE; GENE CLUSTER; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IDIOPATHIC DISEASE; LOC152586 GENE; LUNG FIBROSIS; NUCLEOTIDE SEQUENCE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL;

EID: 33745282150     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/504639     Document Type: Article

References (25)

1. Davies HR, Richeldi L (2002) Idiopathic pulmonary fibrosis: current and future treatment options. Am J Respir Med 1:211-224
2. Bjoraker JA, Ryu JH, Edwin MK, Myers JL, Tazelaar HD, Schroeder DR, Offord KP (1998) Prognostic significance of histopathologic subsets in idiopathic pulmonary fibrosis. Am J Respir Crit Care Med 157:199-203
3. Peabody JW, Peabody JW Jr, Hayes EW (1950) Idiopathic pulmonary fibrosis: its occurrence in identical twin sisters. Dis Chest 18:330
4. Javaheri S, Lederer DH, Pella JA, Mark GJ, Levine BW (1980) Idiopathic pulmonary fibrosis in monozygotic twins. Chest 78:591-594
5. Uchiyama B, Matsubara N, Tominaga Y, Abe T, Satoh K, Nukiwa T (1997) Intensive interview and examination of family members revealed more than 30% incidence of familial clustering of pulmonary fibrosis. Eur Respir J Suppl 10:141s-142s
6. Marshall RP, Puddicombe A, Cookson WOC, Laurent GJ (2000) Adult familial cryptogenic fibrosing alveolitis in the United Kingdom. Thorax 55:143-146
7. Loyd JE (2003) Pulmonary fibrosis in families. Am J Respir Cell Mol Biol Suppl 329:S47-S50
8. Steele M, Speer MC, Loyd JE, Brown KK, Herron A, Slifer SH, Burch LH, Wahidi MM, Phillips JA III, Sporn TA, McAdams HP, Schwarz MI, Schwartz DA (2005) The clinical and pathological features of familial interstitial pneumonia (FIP). Am J Respir Crit Care Med 172:1146-1152
9. Hodgson U, Laitinen T, Tukiainen P (2002) Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland. Thorax 57:338-342
10. Marshall RP, McAnulty RJ, Laurent GJ (1997) The pathogenesis of pulmonary fibrosis: is there a fibrosis gene? Int J Biochem Cell Biol 29:107-120
11. Kere J (2001) Human population genetics: lessons from Finland. Annu Rev Genomics Hum Genet 2:103-128
12. Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki AE, de la Chapelle A (1994) The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 91:7267-7270
13. Höglund P, Sistonen P, Norio R, Holmberg C, Dimberg A, Gustavson KH, de la Chapelle A, Kere J (1995) Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet 57:95-102
14. American Thoracic Society, European Respiratory Society (2002) International multidisciplinary consensus classification of the idiopathic interstitial pneumonias. Am J Respir Crit Care Med 165:277-304
15. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander E (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
16. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, et al (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci USA 99:16899-16903
17. Katzenstein AL, Myers JL (1998) Idiopathic pulmonary fibrosis: clinical relevance of pathologic classification. Am J Respir Crit Care Med 157:1301-1315
18. Pagani F, Buratti E, Stuani C, Baralle FE (2003) Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem 278:26580-26588
19. Pagani F, Baralle FE (2004) Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 5:389-396
20. Karlin S, Chen C, Gentles AJ, Cleary M (2002) Association between human disease genes and overlapping gene groups and multiple amino acid runs. Proc Natl Acad Sci USA 99:17008-17013
21. Laitinen T, Polvi A, Rydman P, Vendelin J, Pulkkinen V, Salmikangas P, Makela S, Rehn M, Pirskanen A, Rautanen A, Zucchelli M, Gullsten H, Leino M, Alenius H, Petays T, Haahtela T, Laitinen A, Laprise C, Hudson TJ, Laitinen LA, Kere J (2004) Characterization of a common susceptibility locus for asthma-related traits. Science 304:300-304
22. Pastinen T, Hudson TJ (2004) Cis-acting regulatory variation in the human genome. Science 306:647-650
23. Lee H-L, Ryu JH, Wittmer MH, Hartman TE, Lymp JF, Tazelaar HD, Limper AH (2005) Familial idiopathic pulmonary fibrosis-clinical features and outcome. Chest 127:2034-2041
24. Bitterman PB, Rennard SI, Keogh BA, Wewers MD, Adelberg S, Crystal RG (1986) Familial idiopathic pulmonary fibrosis: evidence of lung inflammation in unaffected family members. N Engl J Med 314:1343-1347
25. Lahiri DK, Nurnberg JI Jr (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444