S. Rabstein, K. Unfried, U. Ranft T. Illig, M. Kolz, C. Mambetova, M. Vlad, C. Roman, T. Weiss, D. Becker, T. Brüning, B. Pesch, S. Rabstein, Klaus, Lack of association of delta-aminolevulinate dehydratase polymorphism with blood lead leves and hemoglobin in romanian women from a lead-contaminated region, Journal of Toxicology and Environmental Health - A, 71 (2008) 716-724.

Title: Lack of association of delta-aminolevulinate dehydratase polymorphism with blood lead leves and hemoglobin in romanian women from a lead-contaminated region

Abstract: As part of a project on environmental pollution, this study aimed to evaluate associations between blood lead (BPb) levels, hemoglobin (Hb) content, and single-nucleotide polymorphisms (SNPs) of delta-aminolevulinic acid dehydratase (ALAD) gene in 129 unrelated women from Romania. Five SNPs (rs1805313, rs2228083, rs1805312, rs1800435, rs1139488) were analyzed with respect to haplotype structure and impact on BPb levels and Hb content with proportional odds and analysis of covariance models. Combinations of SNPs were rare (16%). Low haplotype diversity was found with seven haplotypes. One rare haplotype implied the C allele of rs1800435, often referred to as the ALAD2 allele (frequency 8.6%). The putative risk genotype (CC) occurred in only one woman with BPb below 0.5 microg/dl. Median BPb was 4.8 microg/dl and differed markedly by community with a level of 12.5 microg/dl near a mining-spill region. Hb was regular (interquartile range 12.3-13.7 g/dl) and not correlated with BPb, although quantitatively lower in women living near the spill region. No significant associations were found for BPb or Hb with SNPs, haplotypes, or diplotypes. BPb levels were higher in this region than in populations from industrialized countries but without hematotoxic effects. An impact of ALAD2 on BPb or Hb was not seen in these women.

Key words: blood lead levels, lead-contaminated region