Heritability of lung function in severe alpha-1 antitrypsin deficiency

Human Heredity

Volumn 67, Issue 1, 2008, Pages 38-45

  DeMeo, D L ^a   Campbell, E J ^b   Brantly, M L ^c   Barker, A F ^d   Eden, E ^e   McElvaney, N G ^k   Rennard, S I ^f   Stocks, J M ^g   Stoller, J K ^h   Strange, C ⁱ   Turino, G ^e   Sandhaus, R A ^j   Silverman, E K ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY OF UTAH   (United States)

^c UNIVERSITY OF FLORIDA   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^f UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^g UNIVERSITY OF TEXAS HEALTH CENTER   (United States)

^h LERNER RESEARCH INSTITUTE   (United States)

ⁱ MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^j NATIONAL JEWISH MEDICAL AND RESEARCH CENTER   (United States)

^k BEAUMONT HOSPITAL   (Ireland)

more..

Author keywords

Alpha 1 antitrypsin deficiency; Familial aggregation; Heritability; Modifier genes

Indexed keywords

ADULT; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CIGARETTE SMOKING; DISEASE SEVERITY; FEMALE; FORCED EXPIRATORY VOLUME; HERITABILITY; HOMOZYGOTE; HUMAN; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PHENOTYPE;

ADULT; AGE OF ONSET; AGED; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; COHORT STUDIES; HUMANS; MIDDLE AGED; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RESPIRATORY FUNCTION TESTS; SEVERITY OF ILLNESS INDEX; SMOKING; SPIROMETRY; YOUNG ADULT;

EID: 53849088250     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000164397     Document Type: Article

References (20)

1. Standardization of Spirometry, 1994 Update. American Thoracic Society. Am J Respir Crit Care Med 1995;152: 1107-1136.
2. Almasy L, Blangero J: Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998;62: 1198-1211.
3. Bernspang E, Sveger T, Piitulainen E: Respiratory symptoms and lung function in 30-year-old individuals with alpha-1-antitrypsin deficiency. Respir Med 2007;101: 1971-1976.
4. Chen Y, Horne SL, Rennie DC, Dosman JA: Segregation analysis of two lung function indices in a random sample of young families: the Humboldt Family Study. Genet Epidemiol 1996;13: 35-47.
5. Crapo RO, Morris AH, Gardner RM: Reference spirometric values using techniques and equipment that meet ATS recommendations. Am Rev Respir Dis 1981;123: 659-664.
6. DeMeo DL, Campbell EJ, Barker AF, Brantly ML, Eden E, McElvaney NG, Rennard SI, Sandhaus RA, Stocks JM, Stoller JK, et al: IL10 polymorphisms are associated with airflow obstruction in severe alpha-1 antitrypsin deficiency. Am J Respir Cell Mol Biol 2008;38:114-120.
7. DeMeo DL, Celedon JC, Lange C, Reilly JJ, Chapman HA, Sylvia JS, Speizer FE, Weiss ST, Silverman EK: Genome-wide linkage of forced mid-expiratory flow in chronic obstructive pulmonary disease. Am J Respir Crit Care Med 2004;170: 1294-1301.
8. Demeo DL, Sandhaus RA, Barker AF, Brantly ML, Eden E, McElvaney NG, Rennard S, Burchard E, Stocks JM, Stoller JK, et al: Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax 2007b;62: 805-812.
9. Ghio AJ, Crapo RO, Elliott CG, Adams TD, Hunt SC, Jensen RL, Fisher AG, Afman GH: Heritability estimates of pulmonary function. Chest 1989;96: 743-746.
10. Gottlieb DJ, Wilk JB, Harmon M, Evans JC, Joost O, Levy D, O'Connor GT, Myers RH: Heritability of longitudinal change in lung function. The Framingham study. Am J Respir Crit Care Med 2001;164: 1655-1659.
11. Hubert HB, Fabsitz RR, Feinleib M, Gwinn C: Genetic and environmental influences on pulmonary function in adult twins. Am Rev Respir Dis 1982;125: 409-415.
12. Kurzius-Spencer M, Sherrill DL, Holberg CJ, Martinez FD, Lebowitz MD: Familial correlation in the decline of forced expiratory volume in one second. Am J Respir Crit Care Med 2001;164: 1261-1265.
13. Larsson C: Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand 1978;204: 345-351.
14. Seersholm N, Kok-Jensen A, Dirksen A: Decline in FEV1 among patients with severe hereditary alpha-1 antitrypsin deficiency type PiZ. Am J Respir Crit Care Med 1995;152(6 Pt 1):1922-1925.
15. Silverman EK, Mosley JD, Rao DC, Palmer LJ, Province MA, Elston RC, Weiss ST, Campbell EJ: Linkage analysis of Alpha-1 antitrypsin deficiency: Lessons for complex diseases. Hum Hered 2001;52: 223-232.
16. Silverman EK, Palmer LJ, Mosley JD, Barth M, Senter JM, Brown A, Drazen JM, Kwiatkowski DJ, Chapman HA, Campbell EJ, et al: Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am J Hum Genet 2002;70: 1229-1239.
17. Silverman EK, Pierce JA, Province MA, Rao DC, Campbell EJ: Variability of pulmonary function in alpha-1-antitrypsin deficiency: clinical correlates. Ann Intern Med 1989;111: 982-991.
18. Silverman EK, Province MA, Campbell EJ, Pierce JA, Rao DC: Variability of pulmonary function in alpha-1-antitrypsin deficiency: residual family resemblance beyond the effect of the Pi locus. Hum Hered 1990;40:340-355.
19. Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, et al: Heritability of lung disease severity in cystic fibrosis. Am J Respir Crit Care Med 2007;175:1036-1043.
20. Wilk JB, Djousse L, Arnett DK, Rich SS, Province MA, Hunt SC, Crapo RO, Higgins M, Myers RH: Evidence for major genes influencing pulmonary function in the NHLBI Family Heart Study. Genet Epidemiol 2000;19:81-94.