Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease

Clinical Biochemistry

Volumn 38, Issue 5, 2005, Pages 489-491

  Gupta, J ^a   Bhadoria, D P ^b   Lal, M K ^b   Kukreti, R ^a   Chattopadhaya, D ^c   Gupta, V K ^d   Dabur, R ^e   Yadav, V ^a   Chhillar, A K ^a   Sharma, G L ^a  

^a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY   (India)

^b UNIVERSITY COLLEGE OF MEDICAL SCIENCES   (India)

^c NATIONAL INSTITUTE OF COMMUNICABLE DISEASES   (India)

^d KURUKSHETRA UNIVERSITY   (India)

^e BUNDELKHAND UNIVERSITY   (India)

Author keywords

Alpha 1 antitrypsin; Chronic obstructive pulmonary disease; Intronic mutation; PIM3 allele

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADULT; AGED; ARTICLE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; DISEASE ASSOCIATION; EXON; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 20144388714     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2005.01.016     Document Type: Article

References (14)

1. G.D. Kelsey, S. Povey, A.E. Bygrave, and R.H. Lovell-Badge Species- and tissue-specific-expression of human alpha 1-antitrypsin in transgenic mice Genes Dev. 1 1987 161 171
2. D.W. Cox α1-Antitrypsin deficiency C.R. Scriber A.L. Beaudet W.S. Sly D. Valle The metabolic basis of inherited disease sixth ed. 1989 McGraw Hill New York 2409 2437
3. A.J. Sandford, and E.K. Silverman Chronic obstructive pulmonary disease 1: Susceptibility factors for COPD the genotype-environment interaction Thorax 57 2002 736 741
4. M. Brantly, T. Nukiwa, and R.G. Crystal Molecular basis of alpha-1-antitrypsin deficiency Am. J. Med. 84 1988 13 31
5. P.E. Stein, and R.W. Carrell What do dysfunctional serpins tell about molecular mobility and disease? Nat. Struct. Biol. 2 1995 96 113
6. G. Fabbretti, C. Sergi, and G. Consales Genetic variants of alpha-1-antitrypsin (AAT) Liver 12 1992 296 301
7. F. Kueppers, and L.F. Black Alpha 1-antitrypsin and its deficiency Am. Rev. Respir. Dis. 110 1974 176 194
8. W. Poller, C. Meisen, and K. Olek DNA polymorphisms of alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease Eur. J. Clin. Invest. 20 1990 1 7
9. M.C. Gaillard, S. Zwi, and C.M. Nogueira Ethnic differences in the occurrence of the M1 (Ala213) haplotype of alpha-1-antitrypsin in asthmatic and non-asthmatic black and white South Africans Clin. Genet. 45 1994 122 127
10. P.A. McCombe, P. Clark, and J.A. Frith Alpha-1-antitrypsin phenotypes in demyelinating disease: an association between demyelinating disease and the allele PIM3 Ann. Neurol. 18 1985 514 516
11. M.L. Bassett, R.A. Bradbear, and P. Kerlin α1-Antitrypsin phenotypes in chronic active hepatitis J. Gastroenterol. Hepatol. 1 1986 207 211
12. A. Kowalska, H.D. Hopfe, and M. Wender Association between the PI*M3 allele of alpha-1-antitrypsin and Alzheimer's disease? A preliminary report Hum. Genet. 98 1996 744 746
13. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res. 16 1988 1215
14. S. Seixas, C. Mendonca, F. Costa, and J. Rocha Alpha 1-Antitrypsin null alleles: evidence for the recurrence of the L353fsX376 mutation and a novel G → A transition in position +1 of intron IC affecting normal mRNA splicing Clin. Genet. 62 2002 175 180