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Multi-generational genome wide association studies identify chromosomal regions associated with ascites phenotype

机译:多代基因组范围的关联研究确定了与腹水表型有关的染色体区域

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摘要

Ascites is a multi-faceted disease commonly observed in fast growing broilers, which is initiated when the body is insufficiently oxygenated. A series of events follow, including an increase in pulmonary artery pressure, right ventricle hypertrophy, and accumulation of fluid in the abdominal cavity and pericardium. Advances in management practices along with improved selection programs have decreased ascites incidence in modern broilers. However, ascites syndrome remains an economically important disease throughout the world, causing estimated losses of $100 million per year. In this study, a 60 K Illumina SNP BeadChip was used to perform a series of genome wide association studies (GWAS) on the 16th and 18th generation of our relaxed (REL) line descended from a commercial elite broiler line beginning in 1995. Regions significantly associated with ascites incidence were identified on chromosome 2 around 70 megabase pairs (Mbp) and on chromosome Z around 60 Mbp. Five candidate single nucleotide polymorphisms (SNP) were evaluated as indicators for these 2 regions in order to identify association with ascites and right ventricle to total ventricle weight (RVTV) ratios. Chromosome 2 SNP showed an association with RVTV ratios in males phenotyped as ascites resistant and ascites susceptible (P = 0.02 and P = 0.03, respectively). The chromosome Z region also indicates an association with resistant female RVTV values (P = 0.02). Regions of significance identified on chromosomes 2 and Z described in this study will be used as proposed candidate regions for further investigation into the genetics of ascites. This information will lead to a better understanding of the underlying genetics and gene networks contributing to ascites, and thus advances in ascites reduction through commercial breeding schemes.
机译:腹水是一种多方面的疾病,通常在快速成长的肉鸡中观察到,这种疾病是在人体氧合不足时开始的。随后发生一系列事件,包括肺动脉压升高,右心室肥大以及腹腔和心包积液。管理实践的进步以及改进的选拔计划已经降低了现代肉鸡的腹水发生率。但是,腹水综合症在全世界仍然是一种重要的经济疾病,估计每年造成1亿美元的损失。在这项研究中,使用60 K Illumina SNP BeadChip对我们的宽松(REL)系的第16代和第18代进行了一系列全基因组关联研究(GWAS),该系起源于1995年开始的商业精英肉鸡系。与腹水发生率有关的关联在2号染色体上约70兆碱基对(Mbp)和Z染色体上约60 Mbp处被鉴定。评价五个候选单核苷酸多态性(SNP)作为这2个区域的指标,以鉴定与腹水的关系以及右心室与总心室重量(RVTV)的比率。表型为抗腹水和易患腹水的男性中,染色体2 SNP与RVTV比率相关(分别为P = 0.02和P = 0.03)。 Z染色体区域还表明与抗性女性RVTV值相关(P = 0.02)。在这项研究中描述的在2号和Z号染色体上鉴定出的重要区域将用作拟议的候选区域,以进一步研究腹水的遗传学。这些信息将使人们更好地了解导致腹水的潜在遗传学和基因网络,从而通过商业育种计划减少腹水。

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