"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras"
Three well-studied populations living at high altitudes are Tibetans, Andeans (Aymaras and Quechuas), and Ethiopians. Unlike Tibetans and Ethiopians who have similar hemoglobin (Hb) levels as individuals living at sea level, Aymara Hb levels increase when living at higher altitudes. Our previous who...
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| Veröffentlicht in: | Genes 2023-03, Vol.14 (3), p.640 |
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| creator | Amaru, Ricardo Song, Jihyun Reading, N Scott Gordeuk, Victor R Prchal, Josef T |
| description | Three well-studied populations living at high altitudes are Tibetans, Andeans (Aymaras and Quechuas), and Ethiopians. Unlike Tibetans and Ethiopians who have similar hemoglobin (Hb) levels as individuals living at sea level, Aymara Hb levels increase when living at higher altitudes. Our previous whole genome study of Aymara people revealed several selected genes that are involved in cardiovascular functions, but their relationship with Hb levels was not elucidated. Here, we studied the frequencies of known evolutionary-selected variants in Tibetan and Aymara populations and their correlation with high Hb levels in Aymara. We genotyped 177 Aymaras at three different altitudes: 400 m (Santa Cruz), 4000 m (La Paz), and 5000 m (Chorolque), and correlated the results with the elevation of residence. Some of the Tibetan-selected variants also exist in Aymaras, but at a lower prevalence. Two of 10 Tibetan selected variants of
were found (rs13005507 and rs142764723) and these variants did not correlate with Hb levels. Allele frequencies of 5 Aymara selected SNPs (heterozygous and homozygous) at 4000 m (rs11578671_
, rs34913965_
, rs12448902_
, rs10744822_
, and rs487105_
) were higher compared to Europeans. The allelic frequencies of rs11578671_
, rs34913965_
, and rs10744822_
were significantly higher for Aymaras living at 5000 m than those at 400 m elevation. Variant rs11578671, close to the
coding region, correlated with Hb levels in females. Variant rs34913965 (
) correlated with leukocyte counts. Variants rs12448902 (
) and rs34913965 (
) associated with higher platelet levels. The correlation of these SNPs with blood cell counts demonstrates that the selected genetic variants in Aymara influence hematopoiesis and cardiovascular effects. |
| doi_str_mv | 10.3390/genes14030640 |
| format | Article |
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were found (rs13005507 and rs142764723) and these variants did not correlate with Hb levels. Allele frequencies of 5 Aymara selected SNPs (heterozygous and homozygous) at 4000 m (rs11578671_
, rs34913965_
, rs12448902_
, rs10744822_
, and rs487105_
) were higher compared to Europeans. The allelic frequencies of rs11578671_
, rs34913965_
, and rs10744822_
were significantly higher for Aymaras living at 5000 m than those at 400 m elevation. Variant rs11578671, close to the
coding region, correlated with Hb levels in females. Variant rs34913965 (
) correlated with leukocyte counts. Variants rs12448902 (
) and rs34913965 (
) associated with higher platelet levels. The correlation of these SNPs with blood cell counts demonstrates that the selected genetic variants in Aymara influence hematopoiesis and cardiovascular effects.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes14030640</identifier><identifier>PMID: 36980912</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Acclimatization - genetics ; Adaptation ; Adaptation (Biology) ; Adaptation, Physiological - genetics ; Adapter proteins ; Adaptor Proteins, Signal Transducing ; Altitude ; Altitude Sickness - genetics ; Atmospheric pressure ; Aymaras ; Basic Helix-Loop-Helix Transcription Factors - genetics ; Edema ; Environmental aspects ; Female ; Gene frequency ; Genes ; Genetic aspects ; Genetic diversity ; Genomes ; Haplotypes ; Hemoglobin ; Hemopoiesis ; High-altitude environments ; Humans ; Hypoxia ; Hypoxia - genetics ; Minority & ethnic groups ; Mountains ; Native peoples ; Natural history ; Physiological aspects ; Physiology ; Population studies ; Sea level ; Single-nucleotide polymorphism</subject><ispartof>Genes, 2023-03, Vol.14 (3), p.640</ispartof><rights>COPYRIGHT 2023 MDPI AG</rights><rights>2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2023 by the authors. 2023</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c483t-e56fd17f7c547ee0ae9a86365584e5a05199e4f892292a4db074ae832395fb983</citedby><cites>FETCH-LOGICAL-c483t-e56fd17f7c547ee0ae9a86365584e5a05199e4f892292a4db074ae832395fb983</cites><orcidid>0000-0003-2765-9748 ; 0000-0003-0806-5661 ; 0000-0002-8019-2940</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048644/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048644/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36980912$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Amaru, Ricardo</creatorcontrib><creatorcontrib>Song, Jihyun</creatorcontrib><creatorcontrib>Reading, N Scott</creatorcontrib><creatorcontrib>Gordeuk, Victor R</creatorcontrib><creatorcontrib>Prchal, Josef T</creatorcontrib><title>"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras"</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>Three well-studied populations living at high altitudes are Tibetans, Andeans (Aymaras and Quechuas), and Ethiopians. Unlike Tibetans and Ethiopians who have similar hemoglobin (Hb) levels as individuals living at sea level, Aymara Hb levels increase when living at higher altitudes. Our previous whole genome study of Aymara people revealed several selected genes that are involved in cardiovascular functions, but their relationship with Hb levels was not elucidated. Here, we studied the frequencies of known evolutionary-selected variants in Tibetan and Aymara populations and their correlation with high Hb levels in Aymara. We genotyped 177 Aymaras at three different altitudes: 400 m (Santa Cruz), 4000 m (La Paz), and 5000 m (Chorolque), and correlated the results with the elevation of residence. Some of the Tibetan-selected variants also exist in Aymaras, but at a lower prevalence. Two of 10 Tibetan selected variants of
were found (rs13005507 and rs142764723) and these variants did not correlate with Hb levels. Allele frequencies of 5 Aymara selected SNPs (heterozygous and homozygous) at 4000 m (rs11578671_
, rs34913965_
, rs12448902_
, rs10744822_
, and rs487105_
) were higher compared to Europeans. The allelic frequencies of rs11578671_
, rs34913965_
, and rs10744822_
were significantly higher for Aymaras living at 5000 m than those at 400 m elevation. Variant rs11578671, close to the
coding region, correlated with Hb levels in females. Variant rs34913965 (
) correlated with leukocyte counts. Variants rs12448902 (
) and rs34913965 (
) associated with higher platelet levels. The correlation of these SNPs with blood cell counts demonstrates that the selected genetic variants in Aymara influence hematopoiesis and cardiovascular effects.</description><subject>Acclimatization - genetics</subject><subject>Adaptation</subject><subject>Adaptation (Biology)</subject><subject>Adaptation, Physiological - genetics</subject><subject>Adapter proteins</subject><subject>Adaptor Proteins, Signal Transducing</subject><subject>Altitude</subject><subject>Altitude Sickness - genetics</subject><subject>Atmospheric pressure</subject><subject>Aymaras</subject><subject>Basic Helix-Loop-Helix Transcription Factors - genetics</subject><subject>Edema</subject><subject>Environmental aspects</subject><subject>Female</subject><subject>Gene frequency</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic diversity</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Hemoglobin</subject><subject>Hemopoiesis</subject><subject>High-altitude environments</subject><subject>Humans</subject><subject>Hypoxia</subject><subject>Hypoxia - genetics</subject><subject>Minority & ethnic groups</subject><subject>Mountains</subject><subject>Native peoples</subject><subject>Natural history</subject><subject>Physiological aspects</subject><subject>Physiology</subject><subject>Population studies</subject><subject>Sea level</subject><subject>Single-nucleotide polymorphism</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNptkk1v1DAQhi0EolXpkSuyyoVLiuOPxD6hqC1dRAUXUI_WbDLZdZW1l9hp2X-Pl26rXYR9GOv1M-_YoyHkbcnOhTDs4wI9xlIywSrJXpBjzmpRSMnVy73zETmN8Y7lJRlnTL0mR6IympmSH5OHs9slJHqL9KsPDxR8R5-Ey0C_hbTT52FK9Oo-DFNywcO4ode5dnItbTpYJ9iqNAU6c4slbYbk0tQhnW3W4bcD6jxtfIeQw2YFI8SzN-RVD0PE0108IT8_X_24mBU336-_XDQ3RSu1SAWqqu_Kuq9bJWtEBmhAV6JSSktUwFRpDMpeG84NB9nNWS0BteDCqH5utDghnx5919N8hV2LPo0w2PXo8js2NoCzhzfeLe0i3Nsyt0tXUmaHDzuHMfyaMCa7crHFYQCPYYqW14ZLY6q_xd7_g96FafT5f1tKVkpwvUctYEDrfB9y4XZraptaijpjjGXq_D9U3h2uXBs89i7rBwnFY0I7hhhH7J8_WTK7nRZ7MC2Zf7ffmWf6aTbEHz2CuIo</recordid><startdate>20230303</startdate><enddate>20230303</enddate><creator>Amaru, Ricardo</creator><creator>Song, Jihyun</creator><creator>Reading, N Scott</creator><creator>Gordeuk, Victor R</creator><creator>Prchal, Josef T</creator><general>MDPI AG</general><general>MDPI</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-2765-9748</orcidid><orcidid>https://orcid.org/0000-0003-0806-5661</orcidid><orcidid>https://orcid.org/0000-0002-8019-2940</orcidid></search><sort><creationdate>20230303</creationdate><title>"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras"</title><author>Amaru, Ricardo ; 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Unlike Tibetans and Ethiopians who have similar hemoglobin (Hb) levels as individuals living at sea level, Aymara Hb levels increase when living at higher altitudes. Our previous whole genome study of Aymara people revealed several selected genes that are involved in cardiovascular functions, but their relationship with Hb levels was not elucidated. Here, we studied the frequencies of known evolutionary-selected variants in Tibetan and Aymara populations and their correlation with high Hb levels in Aymara. We genotyped 177 Aymaras at three different altitudes: 400 m (Santa Cruz), 4000 m (La Paz), and 5000 m (Chorolque), and correlated the results with the elevation of residence. Some of the Tibetan-selected variants also exist in Aymaras, but at a lower prevalence. Two of 10 Tibetan selected variants of
were found (rs13005507 and rs142764723) and these variants did not correlate with Hb levels. Allele frequencies of 5 Aymara selected SNPs (heterozygous and homozygous) at 4000 m (rs11578671_
, rs34913965_
, rs12448902_
, rs10744822_
, and rs487105_
) were higher compared to Europeans. The allelic frequencies of rs11578671_
, rs34913965_
, and rs10744822_
were significantly higher for Aymaras living at 5000 m than those at 400 m elevation. Variant rs11578671, close to the
coding region, correlated with Hb levels in females. Variant rs34913965 (
) correlated with leukocyte counts. Variants rs12448902 (
) and rs34913965 (
) associated with higher platelet levels. The correlation of these SNPs with blood cell counts demonstrates that the selected genetic variants in Aymara influence hematopoiesis and cardiovascular effects.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>36980912</pmid><doi>10.3390/genes14030640</doi><orcidid>https://orcid.org/0000-0003-2765-9748</orcidid><orcidid>https://orcid.org/0000-0003-0806-5661</orcidid><orcidid>https://orcid.org/0000-0002-8019-2940</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MDPI - Multidisciplinary Digital Publishing Institute; MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; PubMed Central Open Access |
| subjects | Acclimatization - genetics Adaptation Adaptation (Biology) Adaptation, Physiological - genetics Adapter proteins Adaptor Proteins, Signal Transducing Altitude Altitude Sickness - genetics Atmospheric pressure Aymaras Basic Helix-Loop-Helix Transcription Factors - genetics Edema Environmental aspects Female Gene frequency Genes Genetic aspects Genetic diversity Genomes Haplotypes Hemoglobin Hemopoiesis High-altitude environments Humans Hypoxia Hypoxia - genetics Minority & ethnic groups Mountains Native peoples Natural history Physiological aspects Physiology Population studies Sea level Single-nucleotide polymorphism |
| title | "What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras" |
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