Delta-aminolevulinic acid dehydratase (ALAD) and vitamin D receptor (VDR) genes polymorphisms in children residing in an abandoned lead-zinc mine area in Kabwe, Zambia

Lead is a ubiquitous environmental pollutant that poses serious health problems to humans, especially to children. However, genetic variability in individuals varies their susceptibility to lead poisoning. One possible factor is genetic polymorphism. Thus, this study aimed to investigate the association between blood lead level (BLL), and polymorphisms in the delta-aminolevulinic acid dehydratase (ALAD) MspI (rs1800435) and vitamin D receptor (VDR) FokI (rs19735810), BsmI (rs15444410), ApaI (rs7975232) and TaqI (rs731236) genes in children exposed to lead. A total of 140 children (aged 2-10 years) were recruited in areas living closer to and far away from an abandoned lead-zinc mine in Kabwe, Zambia. Blood samples were collected from each child for BLLs and polymorphisms analysis. All children were homozygous for the ALAD 1 allele, indicating there might be bioavailable lead in the children's blood which can transfer to the soft tissues and the brain. The distribution of the VDR gene polymorphisms showed major alleles prevalence's of 81%, 80%, 68%, and 75% for FokI, BsmI, ApaI, and TaqI polymorphisms, respectively. The aa genotype of VDR ApaI showed significantly higher BLL compared to other genotypes of the VDRs polymorphism. The TaqI - TT genotype was associated with an increase of lead exposure risk in female children (OR = 2.06; 95% CI:1.04-4.06, p = 0.03). The haplotype analysis showed 10 haplotypes with a frequency above 1%, and the FbAt haplotype showed a protective role against lead toxicity. In conclusion, the children, especially female children, which exposed to lead mainly from the abandoned lead-zinc mine might be at a higher risk of developing lead poisoning. Further, larger scale sample sizes are needed to corroborate the role of ALAD and VDR genetic variants on the implications of lead toxicity in the general population, particularly in children