Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders

Yoshiki Yasukochi, Takayuki Nishimura, Juan Ugarte, Mayumi Ohnishi, Mika Nishihara, Guillermo Alvarez, Hideki Fukuda, Victor Mendoza, Kiyoshi Aoyagi

研究成果: ジャーナルへの寄稿学術誌査読

1 被引用数 (Scopus)


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.

ジャーナルBioMed Research International
出版ステータス出版済み - 2020

All Science Journal Classification (ASJC) codes

  • 免疫学および微生物学(全般)
  • 生化学、遺伝学、分子生物学(全般)


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