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 diseases, 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 significantly 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 Genome 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 increased risk for high-altitude pulmonary edema.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2973881PMC
http://dx.doi.org/10.1073/pnas.1006108107DOI Listing

Publication Analysis

Top Keywords

high-altitude adaptation
12
prakriti types
8
high-altitude pulmonary
8
pulmonary edema
8
egln1
5
high-altitude
5
egln1 involvement
4
involvement high-altitude
4
adaptation revealed
4
revealed genetic
4

Similar Publications

Reciprocal translocation experiments reveal gut microbiome plasticity and host specificity in a Qinghai-Xizang Plateau lizard.

Zool Res

January 2025

Key Laboratory of Animal Ecology and Conservation Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China. E-mail:

Animal adaptation to environmental challenges is a complex process involving intricate interactions between the host genotype and gut microbiome composition. The gut microbiome, highly responsive to external environmental factors, plays a crucial role in host adaptability and may facilitate local adaptation within species. Concurrently, the genetic background of host populations influences gut microbiome composition, highlighting the bidirectional relationship between host and microbiome.

View Article and Find Full Text PDF

All roads lead to Rome: the plasticity of gut microbiome drives the extensive adaptation of the Yarkand toad-headed agama () to different altitudes.

Front Microbiol

January 2025

Xinjiang Key Laboratory for Ecological Adaptation and Evolution of Extreme Environment Biology, College of Life Sciences, Xinjiang Agricultural University, Ürümqi, China.

The gut microbiome was involved in a variety of physiological processes and played a key role in host environmental adaptation. However, the mechanisms of their response to altitudinal environmental changes remain unclear. In this study, we used 16S rRNA sequencing and LC-MS metabolomics to investigate the changes in the gut microbiome and metabolism of the Yarkand toad-headed agama () at different altitudes (-80 m to 2000 m).

View Article and Find Full Text PDF

Integrative multi-omics analysis reveals liver-gut axis adaptation in high-altitude goats.

Comp Biochem Physiol Part D Genomics Proteomics

January 2025

Institute of Animal Science, Xizang Academy of Agricultural and Animal Husbandry Science, Lhasa, Xizang 850009, China; Key Laboratory of Animal Genetics and Breeding on Xizang Plateau, Ministry of Agriculture and Rural Affairs, Lhasa, Xizang 850009, China. Electronic address:

The liver-gut axis is an important regulatory axis for the host's metabolic functions. The study of liver gene expression, changes in metabolic products and the regulation of gut microbial communities in plateau animals under harsh environments can reveal the mechanisms by which Tibetan goats adapt to the plateau environment. This study employs transcriptome, metabolome and metagenomic analyses to reveal the differences in genes, metabolism, and gut microbiota between Jianzhou big-eared goats (JBG) and Xizang cashmere goats (TCG), which is of significant importance for improving survival models of high-altitude ruminants.

View Article and Find Full Text PDF

High-altitude adaptation is a remarkable example of natural selection, yet the genomic and physiological adaptation mechanisms of Ethiopian highlanders remain poorly understood compared to their Andean and Tibetan counterparts. Ethiopian populations, such as the Amhara and Oromo, exhibit unique adaptive strategies characterized by moderate hemoglobin levels and enhanced arterial oxygen saturation, indicating distinct mechanisms of coping with chronic hypoxia. This review synthesizes current genomic insights into Ethiopian high-altitude adaptation, identifying key candidate genes involved in hypoxia tolerance and examining the influence of genetic diversity and historical admixture on adaptive responses.

View Article and Find Full Text PDF

Development of a welfare assessment protocol for migratory goats in the North-Western Himalayan region.

J Appl Anim Welf Sci

January 2025

Department of Livestock Farm Complex, CSKHPKV, Palampur, India.

This study aimed to develop a welfare assessment protocol specifically for migratory goats, acknowledging that migratory pastoralism, while allowing natural behavior expression, can compormise welfare due to environmental stressors and malnutrition. Existing research predominantly focuses on intensive systems, leaving a gap in migratory system assessment. Adapted from the AWIN framework, the protocol was developed through a systematic literature review and expert consultation ( = 46), prioritizing welfare indicators using Likert scale and Weighted Average Index.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!