Gastrointestinal nematode (GIN) is the brutal pathogenic parasite in small ruminants. The aim of our study is to identify single nucleotide polymorphisms in the ATP2A3 gene and investigate their association with GIN infection traits measured in 384 goats encompassing three Chinese indigenous goat populations. The seven novel variants were identified in the goat ATP2A3 gene, in where mutations located in 3´ UTR and two synonymous mutations located in exon regions. Genotypic and allelic frequencies of seven variants were consistent with Hardy-Weinberg equilibrium and the population genetics parameters Association analysis revealed that out of seven polymorphisms, four polymorphisms had highly significant effects on GIN infection traits in goat. From haplotype and LD structures of seven SNPs, two pair variants, C24361893T and C24379974T from exon region as well as C24358400A and G24358441C from 3´ UTR region showed significant LD with each other with strong correlations and spanning 18 kb and 0 kb blocks, respectively. From four polymorphic sites of ATP2A3 gene and their haplotype combinations, eight previously undiscovered haplotypes were constructed from these four mutations, where the AG and CC haplotypes showed the highest frequency 65.0% and 53.3%, followed by others haplotypes. The qRT-PCR analysis, the relative expression of mRNA in ATP2A3 gene was higher in susceptible goats compared to that of resistant goats. Our results indicated that the ATP2A3 gene is a good possible candidate gene either as a major gene or as an associated with a major gene in GIN infection traits in goat. |