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Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders
Joint Authors
Yasukochi, Yoshiki
Nishimura, Takayuki
Ugarte, Juan
Ohnishi, Mayumi
Nishihara, Mika
Alvarez, Guillermo
Fukuda, Hideki
Mendoza, Victor
Aoyagi, Kiyoshi
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-16, 16 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-11-17
Country of Publication
Egypt
No. of Pages
16
Main Subjects
Abstract EN
The physiological characteristics of Andean natives living at high altitudes have been investigated extensively, with many studies reporting that Andean highlanders have a higher hemoglobin (Hb) concentration than other highlander populations.
It has previously been reported that positive natural selection has acted independently on the egl-9 family hypoxia inducible factor 1 (EGLN1) gene in Tibetan and Andean highlanders and is related to Hb concentration in Tibetans.
However, no study has yet revealed the genetic determinants of Hb concentration in Andeans even though several single-nucleotide polymorphisms (SNPs) in EGLN1 have previously been examined.
Therefore, we explored the relationship between hematological measurements and tag SNPs designed to cover the whole EGLN1 genomic region in Andean highlanders living in Bolivia.
Our findings indicated that haplotype frequencies estimated from the EGLN1 SNPs were significantly correlated with Hb concentration in the Bolivian highlanders.
Moreover, we found that an Andean-dominant haplotype related to high Hb level may have expanded rapidly in ancestral Andean highlander populations.
Analysis of genotype data in an ~436.3 kb genomic region containing EGLN1 using public databases indicated that the population structure based on EGLN1 genetic markers in Andean highlanders was largely different from that in other human populations.
This finding may be related to an intrinsic or adaptive physiological characteristic of Andean highlanders.
In conclusion, the high Hb concentrations in Andean highlanders can be partly characterized by EGLN1 genetic variants.
American Psychological Association (APA)
Yasukochi, Yoshiki& Nishimura, Takayuki& Ugarte, Juan& Ohnishi, Mayumi& Nishihara, Mika& Alvarez, Guillermo…[et al.]. 2020. Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders. BioMed Research International،Vol. 2020, no. 2020, pp.1-16.
https://search.emarefa.net/detail/BIM-1133169
Modern Language Association (MLA)
Yasukochi, Yoshiki…[et al.]. Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders. BioMed Research International No. 2020 (2020), pp.1-16.
https://search.emarefa.net/detail/BIM-1133169
American Medical Association (AMA)
Yasukochi, Yoshiki& Nishimura, Takayuki& Ugarte, Juan& Ohnishi, Mayumi& Nishihara, Mika& Alvarez, Guillermo…[et al.]. Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-16.
https://search.emarefa.net/detail/BIM-1133169
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1133169