Genome-wide association study of plasma levels of polychlorinated biphenyls disclose an association with the CYP2B6 gene in a population-based sample.
Bottom Line: Polychlorinated biphenyls (PCBs) are a group of man-made environmental pollutants which accumulate in humans with adverse health effects.Plasma levels of PCB-99 demonstrated genome-wide significant association with single nucleotide polymorphisms (SNPs) mapping to chromosome 19q13.2.In our study, we found plasma levels of four lower-chlorinated PCBs to be significantly associated with the genetic region mapping to the CYP2B6 locus.
Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom. Electronic address: firstname.lastname@example.org.Show MeSH
Related in: MedlinePlus
Mentions: Following imputation, a total of 8,736,858 high-quality SNPs with MAF >1% were included in the analysis. The genomic control inflation factor for each PCB congener was close to 1 (Table 1), so no additional correction for residual population structure after adjustment for principal components was required. We identified genome-wide significant evidence of association for plasma levels of PCB-99, mapping to CYP2B6. The SNP with the strongest association signal was rs8109848 (β=0.34, SE=0.05, p=3.7×10−13), which maps to an intronic region of CYP2B6 (Fig. 1 and 2, Supplemental Tables S1 and S2). This SNP also showed weaker association with several other PCBs (Supplemental Table S3) including PCB-138 (p=3.0×10−8) and PCB-153 (p=0.000041). Conditional analyses, including the genotype dosage of rs8109848 as a covariate in the regression model, extinguished the association signal for all PCBs at this locus.
Affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom. Electronic address: email@example.com.