Metadata of CSIR Papers
View Archive Info| Field | Value | |
| Creator |
Aggarwal, S
Negi, S Jha, P Singh, PK Stobdan, T Pasha, MAQ Ghosh, S Agrawal, A Prasher, B Mukerji, M |
|
| Subject |
Science & Technology - Other Topics
|
|
| Description |
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.
|
|
| Publisher |
NATL ACAD SCIENCESWASHINGTON2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA
|
|
| Date |
2011-09-20T12:07:04Z
2011-09-20T12:07:04Z 2010 |
|
| Type |
Article
|
|
| Identifier |
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
0027-8424 http://hdl.handle.net/123456789/13089 |
|
| Language |
English
|
|