Abstract
In this paper, we have used two approaches to detect genetic associations with scrotal hernias in commercial pigs. Firstly, we have investigated the effects of runs of homozygosity (ROH) with the appearance of scrotal hernias, followed by a Genome Wide Association Study (GWAS). The phenotype classification was based on visual appearance of scrotal hernias. Each affected animal was matched to a healthy control from the same pen. In the total, 68 animals were genotyped using the Porcine SNP60 Beadchip, out of those, 41 animals had the presence of hernias and 27 were healthy animals. Fifteen animals were removed from the analysis due to differences in genetic background, leaving 18 healthy animals and 35 piglets with scrotal hernia. Further, the detection of extended haplotypes shared ROH were conducted for health (control) and affected (case) animals and a permutation test was used to test whether the ROH segments were more frequent in case/case pairs than non-case/case pairs. Using the ROH, we have identified an association (p = 0.019) on chromosome 2(SSC2) being segregated on animals with the presence of scrotal hernias. Using a GWAS, a region composed by 3 SNPs on the sexual chromosome X (SSCX) were associated with scrotal hernias (p < 1.6 × 10−5), this region harbors the Androgen Receptor Gene (AR).
Highlights
Hernias are an abnormal protrusion of an organ or tissue through a defect, or natural opening, in the covering skin or muscle [1] and they are considered the most common congenital and developmental defect identified in the swine industry [2]
Since hernias are being segregated in some animals from specific families’ lines, we have proposed that specific chromosomal segments (Haplotypes) are possibly carrying the alleles involved with this congenital defect
Hernias is considered a major health problem being consistently identified in different species, Hernias is considered considered of major health problemand being consistently identified inthis different species, the identification genetic mechanisms genes being identified within condition will
Summary
Hernias are an abnormal protrusion of an organ or tissue through a defect, or natural opening, in the covering skin or muscle [1] and they are considered the most common congenital and developmental defect identified in the swine industry [2]. Affected animals will have a reduced feed efficiency and retarded growth and it is considered a cause of high morbidity and mortality [1,2,3]. Piglets with hernias will have a lower sale value, causing economic losses to the producers, in addition to the animal effects as pain, stress and absence of welfare [2,3]. Hernias can be subdivided into scrotal or inguinal hernias and umbilical hernias [4]. The inguinal and scrotal hernias are not differentiated without clinical examination; they are generally classified as a single trait, even knowing that inguinal hernia is not sex limited trait [4].
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