全基因组关联分析(GWAS)鉴别猪腹股沟/阴囊疝易感基因

doi:10.11843/j.issn.0366-6964.2014.11.006

Abstract

Abstract:

To identify susceptibility genes susceptible for pig inguinal/scrotal hernia and further reveal the pathogenesis mechanisms of the disorder，734 commercial purebred pigs(237 cases in 220 trio families) containing Landrace and Large White breeds were collected and genotyped with Illumina Porcine 60k SNP chips.The genome-wide association studies (GWAS) based on the single-marker case-control model was used to identy SNPs related to pig inguinal/scrotal hernia.Four significant SNPs in a region of 19.31-19.59 Mb on SSC1 and a SNP at 17.05 Mb on SSC7 which showed significant association with pig inguinal/scrotal hernia.The UST gene within the susceptible region on SSC1 was responsible for biosynthesis of dermatan sulfate glycosaminoglycan that had been shown to be associated with human mucopolysaccharidosis accompanying several type of hernia.CDKAL1 corresponding to the SSC7 locus might affect the occurrence of hernia through the function on cell death.Only MARC0077275 in CDKAL1 was verified using transmission disequilibrium test (TDT) in an expanded population including 1 134 individuals containing 367 individuals with inguinal/scrotal hernia.In summary，this study identified 5 susceptible loci and 2 candidate genes for pig inguinal/scrotal hernia by GWAS，one of which was also verified in a larger population by TDT analysis.These findings provide novel insight into the molecular and genetic basis of inguinal/scrotal hernia in pigs.

Key words: swine, inguinal/scrotal hernia, genome-wide association study, susceptibility loci

CLC Number:

S828
S813.3

RUAN Guo-rong，LONG Yi，SU Ying，ZHANG Zhi-yan，XIAO Shi-jun，LIAO Xin-jun，AI Hua-shui，YANG Bin，DENG Zheng，XIN Wen-shui，TANG Jian-hong，REN Jun，DING Neng-shui，HUANG Lu-sheng. Genome-wide Association Study on Identifying Susceptibility Loci for Pig Inguinal/scrotal Hernia[J]. ACTA VETERINARIA ET ZOOTECHNICA SINICA, 2014, 45(11): 1775-1783.

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Genome-wide Association Study on Identifying Susceptibility Loci for Pig Inguinal/scrotal Hernia

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