Multivariate genome-wide association mapping revealed an association between the toxicity of current use pesticide mixture and a polymorphism in rs1947825 in C17orf54.
Investigation of homologous chromosomes through gene mapping revealed an autozygous region (a location on a chromosome where both alleles of a gene originate from a common ancestor) at chromosome 3q27 in both families.
Further mapping revealed an interval of 330.6 kb.
Composite mapping revealed an additional almost significant QTL at distal chromosome 16, Qivr16.
Subsequently, imputation and fine mapping revealed an additional SNP (rs11849538), also on chromosome 14 and in high linkage disequilibrium with the three genotyped SNPS, with the smallest P-value (6.67E-07).
The RNAseq mapping revealed an additional alternative splicing event that was not reflected in our RT-PCR experiments; a 160 bp extension of exon 4 (exon4ex) resulting in use of an alternate downstream splice donor (Additional file 4: Figure S2) to the female-specific exon 5 acceptor.
