Johne’s disease is a chronic enteritis caused by
Mycobacterium avium ssp. paratuberculosis (MAP)
that causes substantial financial losses for the cattle
industry. Susceptibility to MAP infection is reported
to be determined in part by genetic factors, so markerassisted
selection could help to obtain bovine populations
that are increasingly resistant to MAP infection.
Solute carrier family 11 member 1 (SLC11A1) was
adjudged to be a potential candidate gene because of
its role in innate immunity, its involvement in susceptibility
to numerous intracellular infections, and its
previous association with bovine MAP infection. The
objectives of this study were to carry out an exhaustive
process of discovery and compilation of polymorphisms
in SLC11A1 gene, and to perform a population-based
genetic association study to test its implication in susceptibility
to MAP infection in cattle. In all, 57 single
nucleotide polymorphisms (SNP) were detected, 25 of
which are newly described in Bos taurus. Twenty-four
SNP and two 3′-untranslated region polymorphisms,
previously analyzed, were selected for a subsequent association
study in 558 European Holstein-Friesian animals.
The SNP c.1067C > G and c.1157–91A > T and
a haplotype formed by these 2 SNP yielded significant
association with susceptibility to MAP infection. The
c.1067C > G is a nonsynonymous SNP that causes an
amino acid change in codon 356 from proline to alanine
(P356A) that could alter SLC11A1 protein function.
This association study supports the involvement of
SLC11A1 gene in susceptibility to MAP infection in
cattle. Our results suggest that SNP c.1067C > G may be a potential causal variant, although functional studies
are needed to assure this point.