A candidate gene association study of cryptorchidism and scrotal hernia using canine and porcine models

Xiao, Zhao

doi:10.31274/etd-180810-1775

Cited by 2 publications

(3 citation statements)

References 135 publications

(125 reference statements)

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“…Moreover, SNPs within the NUAK1 gene showed associations with only French Landrace but not with more pigs and it may be caused by the limited sample numbers. For the remaining three SNPs, the comparison in mixed or purebred groups did not uncover notable differences between inguinal/scrotal hernias and the polymorphisms of DEGS1, COL2A1 and MMP2 (p > 0.05) providing some evidence that numerous SNPs in pig inguinal/scrotal hernias were likely breed specific, which coincided with the former studies of pig inguinal/scrotal hernias [29][30][31].…”

Section: Confirmation Of Association Results In 270 Samplessupporting

confidence: 60%

“…In addition, abnormal collagen metabolism is strongly associated with hernia disease [52]. Collagen is the main protein for resisting stress because of its tensile strength and it is composed of some specific anatomical structures such as the internal inguinal ring and gubernaculums [30,53]. Compared with the patients, more type III collagen, which is an immature collagen form of connective tissue, can be attributed to the development of hernias [53].…”

Section: Discussionmentioning

confidence: 99%

“…To date, many theories have intended to explain the etiology of inguinal/scrotal hernias and the most typical hypotheses that were widely accepted were as follows: the apoptosis of muscle cells and aberrant collagen metabolism [30]. According to previous studies, the failure of incomplete closure of processus vaginalis and internal inguinal ring was thought to play an important role in the development of inguinal hernias and scrotal hernias, respectively [48,49].…”

Section: Discussionmentioning

confidence: 99%

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WITHDRAWN: Genome-wide association analysis of inguinal/scrotal hernia in pigs using specific length amplified fragment (SLAF) sequencing

Zou¹,

Zuo²,

Zhu³

et al. 2017

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Inguinal and scrotal hernias are the most frequent congenital disorders in pigs, and they may cause severe economic loss in the pig breeding industry. Genetic factors play a significant role in the susceptibility to hernias, but the genetic mechanisms of inguinal/scrotal hernia are poorly understood. In this study, we performed a genome-wide association study (GWAS) with specific-locus amplified fragment sequencing (SLAF-seq) on 120 (59 cases and 61 controls) full and half sib pigs to identify genetic loci underlying variations in inguinal/scrotal hernias. A total of 218,460 high-quality SNPs were generated for further statistical analysis with casecontrols and the farmCPU model. Based on these two methods, a total of 59 SNPs were significantly (P < 0.01) associated with inguinal/scrotal hernia. Finally, 14 novel candidate genes implicated in the defect were identified, and 5 genes (CPNE5, DEGS1, PLCG2, PRKCE and NUAK1) were related to cell apoptosis, which is one of the pivotal pathogenesis factors of inguinal/scrotal hernia. In addition, 4 of them were shown strong associations with the hernia were confirmed in 270 samples (P < 0.05). This finding provides new evidence that genes related to cell apoptosis may be associated with inguinal/scrotal hernias.

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Section: Confirmation Of Association Results In 270 Samplessupporting

confidence: 60%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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WITHDRAWN: Genome-wide association analysis of inguinal/scrotal hernia in pigs using specific length amplified fragment (SLAF) sequencing

Zou¹,

Zuo²,

Zhu³

et al. 2017

Oncotarget

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Screening of BCL-2 associated X protein gene polymorphism associated with scrotal hernia in domesticated swine using polymerase chain reaction-restriction fragment length polymorphism

Manalaysay¹,

Antonio²,

Apilado³

et al. 2016

Asian-Australas J Anim Sci

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ObjectiveThis study was conducted to screen scrotal hernia in domesticated swine from selected breeders in the Philippines. This defect is associated with a cytosine to thymine mutation in the BCL-2 associated X protein (BAX) gene of swine.MethodsGenetic screening was done by DNA extraction followed by amplification and digestion using polymerase chain reaction-restriction fragment length polymorphism, amplifying the 416 bp region of the BAX gene that was subjected to digestion using the Ear I enzyme. Sequencing was also conducted to validate the results.ResultsResults revealed that out of 538 samples tested, 411 (76.4%) of the samples were found to be normal whereas the remaining were carriers of the mutation in which 80 (14.9%) were heterozygous mutants and 47 (8.7%) were homozygous mutants. Pietrain breed was found to have the highest incidence.ConclusionHaving a scrotal hernia eliminates the chances of using the boar as a breeder stock because the following generations arising from it would most likely exhibit herniation. It is therefore advised to establish a genetic screening method for Scrotal Hernia in the Philippines to eliminate the negative gene from the herd.

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A candidate gene association study of cryptorchidism and scrotal hernia using canine and porcine models

Cited by 2 publications

References 135 publications

WITHDRAWN: Genome-wide association analysis of inguinal/scrotal hernia in pigs using specific length amplified fragment (SLAF) sequencing

WITHDRAWN: Genome-wide association analysis of inguinal/scrotal hernia in pigs using specific length amplified fragment (SLAF) sequencing

Screening of BCL-2 associated X protein gene polymorphism associated with scrotal hernia in domesticated swine using polymerase chain reaction-restriction fragment length polymorphism

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