Öner Yasemin, Serrano Malena, Sarto Pilar, Iguácel Laura Pilar, Piquer-Sabanza María, Estrada Olaia, Juan Teresa, Calvo Jorge Hugo
Department of Animal Science, University of Uludag, Bursa 16059, Turkey.
Departamento de Mejora Genética Animal, INIA, 28040 Madrid, Spain.
Animals (Basel). 2021 May 24;11(6):1531. doi: 10.3390/ani11061531.
A genome-wide association study (GWAS) was performed to identify new single nucleotide polymorphisms (SNPs) and genes associated with mastitis resistance in Assaf sheep by using the Illumina Ovine Infinium HD SNP BeadChip (680K). In total, 6173 records from 1894 multiparous Assaf ewes with at least three test day records and aged between 2 and 7 years old were used to estimate a corrected phenotype for somatic cell score (SCS). Then, 192 ewes were selected from the top ( = 96) and bottom ( = 96) tails of the corrected SCS phenotype distribution to be used in a GWAS. Although no significant SNPs were found at the genome level, four SNPs (rs419096188, rs415580501, rs410336647, and rs424642424) were significant at the chromosome level (FDR 10%) in two different regions of OAR19. The SNP rs419096188 was located in intron 1 of the and close to the genes (61 kb apart), while the other three SNPs were totally linked and located 171 kb apart from the gene. These three genes were related to the immune system response. These results were validated in two SNPs (rs419096188 and rs424642424) in the total population ( = 1894) by Kompetitive Allele-Specific PCR (KASP) genotyping. Furthermore, rs419096188 was also associated with lactose content.
利用Illumina绵羊Infinium HD SNP基因芯片（680K）进行了全基因组关联研究（GWAS），以鉴定与阿萨夫羊乳腺炎抗性相关的新单核苷酸多态性（SNP）和基因。总共使用了来自1894只经产阿萨夫母羊的6173条记录，这些母羊至少有三次检测日记录，年龄在2至7岁之间，用于估计体细胞评分（SCS）的校正表型。然后，从校正后的SCS表型分布的顶部（n = 96）和底部（n = 96）选取192只母羊用于GWAS。虽然在基因组水平未发现显著的SNP，但在OAR19的两个不同区域，四个SNP（rs419096188、rs415580501、rs410336647和rs424642424）在染色体水平上显著（FDR < 10%）。SNP rs419096188位于CSN2基因的内含子1中，靠近CSN1S2和CSN1S1基因（相距61 kb），而其他三个SNP完全连锁，与CSN3基因相距171 kb。这三个基因与免疫系统反应有关。通过竞争性等位基因特异性PCR（KASP）基因分型，在总群体（n = 1894）中的两个SNP（rs419096188和rs424642424）验证了这些结果。此外，rs419096188还与乳糖含量有关。
