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Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders.
Yasukochi, Yoshiki; Nishimura, Takayuki; Ugarte, Juan; Ohnishi, Mayumi; Nishihara, Mika; Alvarez, Guillermo; Fukuda, Hideki; Mendoza, Victor; Aoyagi, Kiyoshi.
Afiliação
  • Yasukochi Y; Department of Human Functional Genomics, Advanced Science Research Promotion Center, Mie University, Tsu, Mie 514-8507, Japan.
  • Nishimura T; Department of Public Health, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
  • Ugarte J; Department of Human Science, Faculty of Design, Kyushu University, 4-9-1 Shiobaru, Minamiku, Fukuoka 815-8540, Japan.
  • Ohnishi M; Faculty of Dentistry, Universidad Mayor de San Andres, Av. Saavedra 2244, La Paz, Bolivia.
  • Nishihara M; Department of Health Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
  • Alvarez G; Department of Health Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan.
  • Fukuda H; Faculty of Dentistry, Universidad Mayor de San Andres, Av. Saavedra 2244, La Paz, Bolivia.
  • Mendoza V; National Institute of Public Health, Japan 2-3-6 Minami, Wako City, Saitama 351-0197, Japan.
  • Aoyagi K; Faculty of Dentistry, Universidad Mayor de San Andres, Av. Saavedra 2244, La Paz, Bolivia.
Biomed Res Int ; 2020: 3436581, 2020.
Article em En | MEDLINE | ID: mdl-33282944
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas / Polimorfismo de Nucleotídeo Único / Altitude / Prolina Dioxigenases do Fator Induzível por Hipóxia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male País/Região como assunto: America do sul / Bolivia Idioma: En Revista: Biomed Res Int Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hemoglobinas / Polimorfismo de Nucleotídeo Único / Altitude / Prolina Dioxigenases do Fator Induzível por Hipóxia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male País/Região como assunto: America do sul / Bolivia Idioma: En Revista: Biomed Res Int Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão País de publicação: Estados Unidos