Neary Marianne T, Neary Joseph M, Lund Gretchen K, Holt Timothy N, Garry Franklyn B, Mohun Timothy J, Breckenridge Ross A
Medical Research Council, National Institute for Medical Research, Mill Hill, London, United Kingdom ; These two authors contributed equally to the work.
Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences, Colorado State University, Fort Collins, Colorado, USA ; These two authors contributed equally to the work.
Pulm Circ. 2014 Sep;4(3):496-503. doi: 10.1086/677364.
Bovine pulmonary hypertension, brisket disease, causes significant morbidity and mortality at elevations above 2,000 m. Mean pulmonary arterial pressure (mPAP) is moderately heritable, with inheritance estimated to lie within a few major genes. Invasive mPAP measurement is currently the only tool available to identify cattle at risk of hypoxia-induced pulmonary hypertension. A genetic test could allow selection of cattle suitable for high altitude without the need for invasive testing. In this study we evaluated three candidate genes (myosin heavy chain 15 [MYH15], NADH dehydrogenase flavoprotein 2, and FK binding protein 1A) for association with mPAP in 166 yearling Angus bulls grazing at 2,182 m. The T allele (rs29016420) of MYH15 was linked to lower mPAP in a dominant manner (CC 47.2 ± 1.6 mmHg [mean ± standard error of the mean]; CT/TT 42.8 ± 0.7 mmHg; P = 0.02). The proportions of cattle with MYH15 CC, CT, and TT genotypes were 55%, 41%, and 4%, respectively. Given the high frequency of the deleterious allele, it is likely that the relative contribution of MYH15 polymorphisms to pulmonary hypertension is small, supporting previous predictions that the disease is polygenic. We evaluated allelic frequency of MYH15 in the Himalayan yak (Bos grunniens), a closely related species adapted to high altitude, and found 100% prevalence of T allele homozygosity. In summary, we identified a polymorphism in MYH15 significantly associated with mPAP. This finding may aid selection of cattle suitable for high altitude and contribute to understanding human hypoxia-induced pulmonary hypertension.
牛肺动脉高压,即胸肉病,在海拔2000米以上会导致显著的发病率和死亡率。平均肺动脉压(mPAP)具有中度遗传性,据估计其遗传由少数几个主要基因决定。目前,侵入性mPAP测量是识别有缺氧诱导型肺动脉高压风险的牛的唯一可用工具。基因检测可以在无需侵入性检测的情况下选择适合高海拔地区的牛。在本研究中,我们评估了三个候选基因(肌球蛋白重链15 [MYH15]、NADH脱氢酶黄素蛋白2和FK结合蛋白1A)与166头在2182米处放牧的一岁安格斯公牛的mPAP之间的关联。MYH15的T等位基因(rs29016420)以显性方式与较低的mPAP相关联(CC型为47.2±1.6 mmHg [平均值±平均标准误差];CT/TT型为42.8±0.7 mmHg;P = 0.02)。具有MYH15 CC、CT和TT基因型的牛的比例分别为55%、41%和4%。鉴于有害等位基因的高频率,MYH15多态性对肺动脉高压的相对贡献可能较小,这支持了之前关于该疾病是多基因疾病的预测。我们评估了喜马拉雅牦牛(Bos grunniens)中MYH15的等位基因频率,喜马拉雅牦牛是一种适应高海拔环境的近缘物种,发现T等位基因纯合子的患病率为100%。总之,我们鉴定出一个与mPAP显著相关的MYH15多态性。这一发现可能有助于选择适合高海拔地区的牛,并有助于理解人类缺氧诱导型肺动脉高压。