Evidence of genetic effects on blood lead concentration

Whitfield, John B., Dy, Veronica, McQuilty, Robert, Zhu, Gu, Montgomery, Grant W., Ferreira, Manuel A. R., Duffy, David L., Neale, Michael C., Heijmans, Bas T., Heath, Andrew C. and Martin, Nicholas G. (2007) Evidence of genetic effects on blood lead concentration. Environmental Health Perspectives, 115 8: 1224-1230. doi:10.1289/ehp.8847

Author Whitfield, John B.
Dy, Veronica
McQuilty, Robert
Zhu, Gu
Montgomery, Grant W.
Ferreira, Manuel A. R.
Duffy, David L.
Neale, Michael C.
Heijmans, Bas T.
Heath, Andrew C.
Martin, Nicholas G.
Title Evidence of genetic effects on blood lead concentration
Journal name Environmental Health Perspectives   Check publisher's open access policy
ISSN 0091-6765
Publication date 2007-06-14
Sub-type Article (original research)
DOI 10.1289/ehp.8847
Open Access Status DOI
Volume 115
Issue 8
Start page 1224
End page 1230
Total pages 7
Editor T. J. Goehl
Place of publication North Carolina, U.S.A.
Publisher U.S. Department of Health & Human Services, National Institute of Environmental Health Sciences
Collection year 2008
Language eng
Subject 730107 Inherited diseases (incl. gene therapy)
321011 Medical Genetics
Abstract BACKGROUND: Lead is an environmental pollutant that causes acute and chronic toxicity. Surveys have related mean blood lead concentrations to exogenous sources, including industrial activity, use of lead-based paints, or traffic density. However, there has been little investigation of individual differences in lead absorption, distribution, or toxicity, or of genetic causes of such variation. OBJECTIVES: We assessed the genetic contribution to variation in blood lead concentration in adults and conducted a preliminary search for genes producing such variation. METHODS: Erythrocyte lead concentration was measured by inductively coupled plasma mass spectrometry in venous blood samples from 2,926 Australian adult male and female twins. Mean lead concentrations were compared by place of residence, social class and education, and by the subjects' age, sex, alcohol intake, smoking habits, iron status, and HFE genotype. RESULTS: After adjustment for these covariates, there was strong evidence of genetic effects but not for shared environmental effects persisting into adult life. Linkage analysis showed suggestive evidence (logarithm of odds = 2.63, genome-wide p = 0.170) for a quantitative trait locus affecting blood lead values on chromosome 3 with the linkage peak close to SLC4A7, a gene whose product affects lead transport. CONCLUSIONS: We conclude that genetic variation plays a significant role in determining lead absorption, lead distribution within the body, or both.
Keyword Adult
Alcohol Drinking
Chromosomes, Human, Pair 3/genetics
Environmental Pollutants/*blood
Histocompatibility Antigens Class I/genetics
Linkage (Genetics)
Membrane Proteins/genetics
Middle Aged
Quantitative Trait Loci
Sodium-Bicarbonate Symporters/genetics
Uric Acid/blood
Variation (Genetics)
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ

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Created: Mon, 03 Mar 2008, 11:31:32 EST