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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda
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EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda

机译：通过对阿育吠陀中定义的极端体质类型进行遗传分析，揭示了EGLN1参与高海拔适应

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摘要

It is being realized that identification of subgroups within normal controls corresponding to contrasting disease susceptibility is likely to lead to more effective predictive marker discovery. We have previously used the Ayurvedic concept of Prakriti, which relates to phenotypic differences in normal individuals, including response to external environment as well as susceptibility to dis eases, to explore molecular differences between three contrasting Prakriti types: Vata, Pitta, and Kapha. EGLN1 was one among 251 differentially expressed genes between the Prakriti types. In the present study, we report a link between high-altitude adaptation and common variations rs479200 (C/T) and rs480902 (T/C) in the EGLN1 gene. Furthermore, the TT genotype of rs479200, which was more frequent in Kapha types and correlated with higher expression of EGLN1, was associated with patients suffering from high-altitude pulmonary edema, whereas it was present at a sig nificantly lower frequency in Pitta and nearly absent in natives of high altitude. Analysis of Human Genome Diversity Panel-Centre d'Etude du Polymorphisme Humain (HGDP-CEPH) and Indian Ge nome Variation Consortium panels showed that disparate genetic lineages at high altitudes share the same ancestral allele (T) of rs480902 that is overrepresented in Pitta and positively correlated with altitude globally (P < 0.001), including in India. Thus, EGLN1 polymorphisms are associated with high-altitude adaptation, and a genotype rare in highlanders but overrepresented in a subgroup of normal lowlanders discernable by Ayurveda may confer in creased risk for high-altitude pulmonary edema.
机译：已经认识到，在正常对照中与疾病易感性相对应的亚组的鉴定很可能导致更有效的预测标记物发现。我们以前曾使用过Prakriti的阿育吠陀概念，该概念涉及正常个体的表型差异，包括对外部环境的反应以及对疾病的易感性，以探索三种对比Prakriti类型之间的分子差异：Vata，Pitta和Kapha。 EGLN1是Prakriti类型之间的251个差异表达基因之一。在本研究中，我们报告了EGLN1基因的高海拔适应性与常见变异rs479200（C / T）和rs480902（T / C）之间的联系。此外，rs479200的TT基因型在Kapha类型中更为常见，并且与EGLN1的高表达相关，与患有高海拔肺水肿的患者有关，而在Pitta中出现的频率显着较低，而几乎没有在高海拔的地方。人类基因组多样性专家小组-Humain中心（HGDP-CEPH）和印度基因组变异联盟的分析显示，高海拔地区的不同遗传谱系共享rs480902的相同祖先等位基因（T），在Pitta和与全球海拔高度呈正相关（P <0.001），包括印度。因此，EGLN1基因多态性与高海拔适应性相关，在高地居民中少见但在阿育吠陀可辨别的正常低地居民亚组中过高的基因型可能导致高海拔肺水肿的风险增加。

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    Shilpi Aggarwal; Sapna Negi; Pankaj Jha; Prashant K. Singh; Tsering Stobdan; M. A. Qadar Pasha; Saurabh Ghosh; Anurag Agrawal; Indian Genome Variation Consortium; Bhavana Prasher; Mitali Mukerji;

  • 作者单位

    Genomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnHuman Genetics Unit, Indian Statistical Institute, Kolkata 700108, India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

    rnPlanning and Performance Division, Council of Scientific and Industrial Research (CSIR), New Delhi 110001, India;

    rnGenomics and Molecular Medicine, Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research (CSIR), New Delhi 110007,India;

  • 收录信息 美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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  • 正文语种 eng
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  • 关键词

    high-altitude pulmonary edema; prakriti; indian genome variation database; phenotype; hypoxia;

    机译：高原肺水肿;prakriti印度基因组变异数据库;表型缺氧;

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