Use of a genealogical database demonstrates heritability of pulmonary fibrosis

Lung

Volumn 191, Issue 5, 2013, Pages 475-481

  Scholand, Mary Beth ^a   Coon, Hilary ^a   Wolff, Roger ^a   Cannon Albright, Lisa ^a  

^a UNIVERSITY OF UTAH   (United States)

Author keywords

Genetic epidemiology; Idiopathic pulmonary fibrosis; Interstitial lung disease; Population genetics; Pulmonary fibrosis

Indexed keywords

ARTICLE; CAUSE OF DEATH; CONTROLLED STUDY; DEATH CERTIFICATE; GENEALOGY; GENETIC DATABASE; HERITABILITY; HUMAN; LUNG FIBROSIS; MAJOR CLINICAL STUDY; PEDIGREE; PRIORITY JOURNAL; RELATIVE; RISK FACTOR;

DATABASES, FACTUAL; DEATH CERTIFICATES; FEMALE; GENEALOGY AND HERALDRY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; PEDIGREE; PULMONARY FIBROSIS; RETROSPECTIVE STUDIES; RISK FACTORS; UTAH;

EID: 84884818043     PISSN: 03412040     EISSN: 14321750     Source Type: Journal    
DOI: 10.1007/s00408-013-9484-2     Document Type: Article

References (26)

1. Raghu G (2011) Idiopathic pulmonary fibrosis: guidelines for diagnosis and clinical management have advanced from consensus-based in 2000 to evidence-based in 2011. Eur Respir J 37:743-746
2. Raghu G, Collard HR, Egan JJ, Martinez FJ, Behr J, Brown KK, Colby TV, Cordier JF, Flaherty KR, Lasky JA, Lynch DA, Ryu JH, Swigris JJ, Wells AU, Ancochea J, Bouros D, Carvalho C, Costabel U, Ebina M, Hansell DM, Johkoh T, Kim DS, King TE Jr, Kondoh Y, Myers J, Muller NL, Nicholson AG, Richeldi L, Selman M, Dudden RF, Griss BS, Protzko SL, Schunemann HJ (2011) Fibrosis AEJACoIP. An official ats/ers/jrs/alat statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management. Am J Respir Crit Care Med 183:788-824
3. Grutters JC, du Bois RM (2005) Genetics of fibrosing lung diseases. Eur Respir J 25:915-927
4. Nogee LM, Dunbar AE 3rd, Wert SE, Askin F, Hamvas A, Whitsett JA (2001) A mutation in the surfactant protein c gene associated with familial interstitial lung disease. N Engl J Med 344:573-579
5. van Moorsel CH, van Oosterhout MF, Barlo NP, de Jong PA, van der Vis JJ, Ruven HJ, van Es HW, van den Bosch JM, Grutters JC (2010) Surfactant protein c mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med 182:1419-1425
6. Maitra M, Wang Y, Gerard RD, Mendelson CR, Garcia CK (2010) Surfactant protein a2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress. J Biol Chem 285:22103-22113
7. Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK (2009) Genetic defects in surfactant protein a2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet 84:52-59
8. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK (2007) Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 104:7552-7557
9. Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA 3rd, Lansdorp PM, Greider CW, Loyd JE (2007) Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 356:1317-1326
10. Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE, Fingerlin TE, Zhang W, Gudmundsson G, Groshong SD, Evans CM, Garantziotis S, Adler KB, Dickey BF, du Bois RM, Yang IV, Herron A, Kervitsky D, Talbert JL, Markin C, Park J, Crews AL, Slifer SH, Auerbach S, Roy MG, Lin J, Hennessy CE, Schwarz MI, Schwartz DA (2011) A common muc5b promoter polymorphism and pulmonary fibrosis. N Engl J Med 364:1503-1512
11. Lawson WE, Loyd JE, Degryse AL (2011) Genetics in pulmonary fibrosis - familial cases provide clues to the pathogenesis of idiopathic pulmonary fibrosis. Am J Med Sci 341:439-443
12. Steele MP, Speer MC, Loyd JE, Brown KK, Herron A, Slifer SH, Burch LH, Wahidi MM, Phillips JA 3rd, Sporn TA, McAdams HP, Schwarz MI, Schwartz DA (2005) Clinical and pathologic features of familial interstitial pneumonia. Am J Respir Crit Care Med 172:1146-1152
13. Cannon Albright LA (2008) Utah family-based analysis: past, present and future. Hum Hered 65:209-220
14. Cannon Albright LA, Camp NJ, Farnham JM, MacDonald J, Abtin K, Rowe KG (2003) A genealogical assessment of heritable predisposition to aneurysms. J Neurosurg 99:637-643
15. Horne BD, Camp NJ, Muhlestein JB, Cannon-Albright LA (2004) Evidence for a heritable component in death resulting from aortic and mitral valve diseases. Circulation 110:3143-3148
16. Horne BD, Camp NJ, Muhlestein JB, Cannon-Albright LA (2006) Identification of excess clustering of coronary heart diseases among extended pedigrees in a genealogical population database. Am Heart J 152:305-311
17. Teerlink CC, Hegewald MJ, Cannon-Albright LA (2007) A genealogical assessment of heritable predisposition to asthma mortality. Am J Respir Crit Care Med 176:865-870
18. Albright FS, Orlando P, Pavia AT, Jackson GG, Cannon Albright LA (2008) Evidence for a heritable predisposition to death due to influenza. J Infect Dis 197:18-24
19. Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J et al (1994) Analysis of the p16 gene (cdkn2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet 8:23-26
20. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE (1996) The complete brca2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 12:333-337
21. Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt A, Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Peterson KT, Reid JE, Richards S, Schroeder M, Smith R, Snyder SC, Swedlund B, Swensen J, Thomas A, Tranchant M, Woodland AM, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA (2001) A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet 27:172-180
22. Cairns J, Lyon JL, Skolnick M (1980) Cancer incidence in defined populations. Cold Spring Harbor Laboratory, Cold Spring Harbor
23. Tashjian RZ, Farnham JM, Albright FS, Teerlink CC, Cannon-Albright LA (2009) Evidence for an inherited predisposition contributing to the risk for rotator cuff disease. J Bone Joint Surg Am 91:1136-1142
24. Tenesa A, Haley CS (2013) The heritability of human disease: estimation, uses and abuses. Nat Rev Gen 14:139-149
25. Malécot G (1948) Les mathématiques de l'héré dité. Masson et Cie, Paris
26. Centers for Disease Prevention (2001) State-specific prevalence of current cigarette smoking among adults, and policies and attitudes about secondhand smoke - United States, 2000. MMWR Morb Mortal Weekly Rep 50:1101-1106