PMID- 2338230
OWN - NLM
STAT- MEDLINE
DCOM- 19900620
LR  - 20071114
IS  - 0741-0395 (Print)
IS  - 0741-0395 (Linking)
VI  - 7
IP  - 2
DP  - 1990
TI  - Biochemical intermediates in alpha 1-antitrypsin deficiency: residual family 
      resemblance for total alpha 1-antitrypsin, oxidized alpha 1-antitrypsin, and 
      immunoglobulin E after adjustment for the effect of the Pi locus.
PG  - 137-49
AB  - alpha 1-antitrypsin (alpha 1 AT) deficiency is variably associated with the 
      development of pulmonary emphysema. To gain insight into the process which begins 
      the Z point mutation at the Protease Inhibitor (Pi) locus and results in the 
      variable development of emphysema, three quantitative phenotypes, including total 
      alpha 1 AT, oxidized alpha 1 AT, and total immunoglobulin E (IgE), were measured 
      in sera from alpha 1-antitrypsin-deficient individuals and their families. The 
      mean and variance effects of the Pi locus on these biochemical phenotypes were 
      removed, and path analysis of the residual phenotypes was performed by using a 
      TAU model to investigate whether there was any additional multifactorial 
      transmission. Significant transmission was demonstrated for total serum IgE and 
      serum-oxidized alpha 1 AT, which could be due to major genes other than the Pi 
      locus, polygenes, or familial environment. Segregation analysis of the residual 
      phenotypes was performed to determine whether additional major gene effects, 
      other than the Pi effect, influence these quantitative phenotypes. Convincing 
      evidence for an additional major gene was not found for oxidized alpha 1 AT, 
      total alpha 1 AT, or IgE.
FAU - Silverman, E K
AU  - Silverman EK
AD  - Division of Biostatistics, Washington University School of Medicine, St. Louis, 
      MO 63110.
FAU - Province, M A
AU  - Province MA
FAU - Campbell, E J
AU  - Campbell EJ
FAU - Pierce, J A
AU  - Pierce JA
FAU - Rao, D C
AU  - Rao DC
LA  - eng
GR  - GM 28719/GM/NIGMS NIH HHS/United States
GR  - GM 7200/GM/NIGMS NIH HHS/United States
GR  - HL 07317/HL/NHLBI NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genet Epidemiol
JT  - Genetic epidemiology
JID - 8411723
RN  - 0 (alpha 1-Antitrypsin)
RN  - 37341-29-0 (Immunoglobulin E)
SB  - IM
MH  - Data Interpretation, Statistical
MH  - Female
MH  - Humans
MH  - Immunoglobulin E/*analysis
MH  - Male
MH  - Models, Genetic
MH  - Oxidation-Reduction
MH  - Pedigree
MH  - Phenotype
MH  - Pulmonary Emphysema/genetics
MH  - alpha 1-Antitrypsin/analysis/genetics
MH  - *alpha 1-Antitrypsin Deficiency
EDAT- 1990/01/01 00:00
MHDA- 1990/01/01 00:01
CRDT- 1990/01/01 00:00
PHST- 1990/01/01 00:00 [pubmed]
PHST- 1990/01/01 00:01 [medline]
PHST- 1990/01/01 00:00 [entrez]
AID - 10.1002/gepi.1370070204 [doi]
PST - ppublish
SO  - Genet Epidemiol. 1990;7(2):137-49. doi: 10.1002/gepi.1370070204.