Human ancestry ontology for the NHGRI GWAS Catalog Human Ancestry Ontology 2024-06-21 obsolete hasEthnicPopulation true hasAncestryStatus hasCountryOfOrigin hasDemonym isDemonymOf Any geographic area greater than an individual country but smaller than a continent, used as a convenience reference. Please note that most geographic areas may not be formally defined and exact boundaries can be debatable. geographical area region A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states. NCIT:C25464 http://purl.obolibrary.org/obo/NCIT_C25464 obsolete country true Population category defined using ancestry informative markers (AIMs) based on genetic/genomic data ancestral group ancestry category Includes individuals who either self-report or have been described by authors as European, Caucasian, White or one of the sub-populations from this region (e.g Dutch). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CEU, FIN, GBR, IBS and TSI populations. Caucasian white European Includes individuals who either self-report or have been described by authors as South Asian or one of the sub-populations from this region (e.g Asian Indian). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap BEB, GIH, ITU, PJL and STU populations. South Asian Includes individuals who either self-report or have been described by authors as South East Asian or one of the sub-populations from this region (e.g Vietnamese). This category also includes includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes KHV population. We note that East Asian and South East Asian populations are often conflated. However, recent studies indicate a unique genetic background for South East Asian populations. South East Asian Includes individuals that either self-report or have been described as Asian but there was not sufficient information to allow classification as East Asian, Central Asian, South Asian or South-East Asian. Asian unspecified Asian Includes individuals who either self-report or have been described by authors as East Asian or one of the sub-populations from this region (e.g Chinese). This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CDX, CHB, CHS and JPT populations. East Asian Includes individuals that either self-report or have been described as African, but there was not sufficient information to allow classification as African American, AfroCaribbean or Sub-Saharan African. African unspecified African Includes individuals who either self-report or have been described by authors as SubSaharan African or one of the subpopulations from this region (e.g. Yoruban). This category also includes individuals who genetically cluster with reference populations from this region for example 1000 Genomes and/or HapMap ESN, LWK, GWD, MSL, MKK and YRI populations. Sub-Saharan African Includes indigenous individuals of North, Central and South America, descended from the original human migration into the Americas from Siberia. We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap. Class previously labelled as "Native American". Use of this term, alongside other terms such as "First Nations", should be discontinued in favour of the more appropriate "Indigenous American", which includes indigenous communities across the Americas while the former serve as political designations in the USA and Canada, respectively. Indigenous American Includes individuals who either self-report or are described by authors as Hispanic, Latino, Latin American or one of the sub-populations from this region. This category includes individuals with known admixture of primarily European, African and Native American ancestries, though some may have also a degree of Asian (e.g. Peru). We also note that the levels of admixture vary depending on the country, with Caribbean countries carrying higher levels of African admixture when compared to South American countries, for example. This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap CLM, MXL, PEL and PUR populations Jackie MacArthur Joannella Morales Latin or Admixed American Includes individuals who self-report or were described by authors as Middle Eastern, North African, Persian or one of the subpopulations from this region (e.g. Saudi Arabian). We note there is heterogeneity in this category with different degrees of admixture as well as levels of genetic isolation. We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap. Middle Eastern/North African Greater Middle Eastern (Middle Eastern or North African or Persian) Includes individuals who either self-report or have been described by authors as African American or Afro-Caribbean. This category also includes individuals who genetically cluster with reference populations from this region, for example 1000 Genomes and/or HapMap ACB or ASW populations. We note that there is likely to be significant admixture with European ancestry populations. African American or Afro-Caribbean Includes individuals that either self-report or have been described by authors as Oceanian or one of the sub-populations from this region (e.g. Native Hawaiian). We note that there does not appear to be a suitable reference population for this category and efforts are required to fill this gap. Oceanian A population for which specific ancestry information is known but that does not fall into any of the defined ancestry categories uncategorised population Japanese non-aboriginal Taiwanese Taiwanese Chinese Korean Mongolian Macanese Singaporean Chinese Hong Kong Chinese Han Chinese obsolete Africa true obsolete Asia true obsolete Europe true obsolete Oceania true obsolete Latin America and the Caribbean true obsolete Northern America true obsolete Eastern Africa true obsolete Middle Africa true obsolete Northern Africa true obsolete Southern Africa true obsolete Western Africa true obsolete South Central Asia true obsolete South-Eastern Asia true obsolete Western Asia true obsolete Eastern Europe true obsolete Northern Europe true obsolete Southern Europe true obsolete Western Europe true obsolete Caribbean true obsolete South America true obsolete Central America true Australia/New Zealand obsolete Melanesia true obsolete Micronesia true obsolete Polynesia true obsolete Eastern Asia true Includes individuals who either self-report or have been described by authors as Central Asian. We note that there does not appear to be a suitable reference population for this population and efforts are required to fill this gap. Central Asian obsolete Scandinavia true obsolete South Asia true A population with increased genetic homogeneity and reduced genetic variation due to cultural or geographic isolation founder population population isolate genetically isolated population General characterisation of the ancestry of a population or individual ancestry status Ancestry that is the result of cultural or geographic isolation. Generally characterised by increased genetic homogeneity and reduced genetic variation genetically isolated ancestry Ancestry which is an admixture of more than one defined ancestral population. The degree and type of admixture may vary within a population and the accuracy of classification requires well-defined reference samples admixed ancestry Italian Sardinian Val Borbera Friuli Venezia Giulia Carlantino Old Order Amish Sorb Hutterite Amish Erasmus Rucphen Orcadian Korčulan Dutch Finnish Finnish founder Dutch founder Ashkenazi Jew obsolete_Caribbean true Sudanese obsolete Sahrawi true Anguillan Antiguan or Barbudan Barbadian Haitian Jamaican Tajikistani Turkmen Uzbekistani Afghan Kazakhstani Kyrgyzstani Albanian Andorran Australian Austrian Belarusian Belgian Bermudian Bosnian or Herzegovinian Brazilian Bulgarian Canadian Channel Islander Chilean Croatian Czech Danish Estonian Faroese Falkland Islander French German Gibraltarian Greek Greenlander Hungarian Icelandic Manx Latvian Liechtensteiner Lithuanian Luxembourgish Maltese Monegasque Montenegrin New Zealander Norfolk Islander Norwegian Polish Portugese Irish Moldovan Romanian Russian Saint-Pierrais or Miquelonnais Sammarinese Serb Slovak Slovene Spanish Swedish Swiss Macedonian Ukrainian Argentine Bahamian Belizean Bolivian British Virgin Islander Caymanian Colombian Costa Rican Cuban Dominican Ecuadorian Salvadoran French Guianese Grenadian Guatemalan Guyanese Honduran Martinican Mexican Montserratian Nicaraguan Panamanian Paraguayan Peruvian Puerto Rican Kittitian or Nevisian Saint Lucian Saint Vincentian Surinamer Surinamese Trinidadian or Tobagonian Turks and Caicos Islander Virgin Islander Uruguayan Venezuelan Algerian Armenian Azerbaijani Bahraini Cypriote obsolete Egyptian true Georgian Iranian Iraqi Israeli Jordanian Kuwaiti Lebanese Libyan Moroccan Palestinian Omani Qatari Saudi Arab Saudi Tunisian Turkish Emirati Yemeni Aruban Christmas Islander Cocos Islander Curacaoan Kosovar Northern Mariana Islander South Sudanese Syrian British American American Samoan Cook Islander Fijian French Polynesian Guamanian I-Kiribati Marshallese Micronesian Nauruan New Caledonian Niuean Palauan Papua New Guinean Pitcairn Islander Samoan Solomon Islander Tokelauan Tongan Tuvaluan Ni-Vanuato Wallis and Futuna Islander Bangladeshi Bhutanese Asian Indian Indian Asian Indian Maldivian Nepalese Pakistani Sri Lankan Bruneian Cambodian Indonesian Lao Malaysian Burmese Filipino Thai Timorese Vietnamese Cameroonian Cape Verdean Chadian Ethiopian Kenyan Liberian obsolete Malagasy true Mauritanian Mauritian Mahoran Namibian Sao Tomean Senegalese obsolete Seychellois true Sierra Leonean obsolete Somali true South African St. Helenian Ugandan Angolan Beninese Motswana Burkinabe Burundian obsolete Central African true Comoran Congolese Ivoirian Djiboutian Equatorial Guinean Eritrean Gabonese Gambian Ghanaian Guinean Bissau-Guinean Mosotho Malawian Malian Mozambican Nigerien Nigerian Rwandan obsolete Swazi true Togolese Tanzanian Zambian Zimbabweian Irish founder genetically homogenous Irish Includes individuals who either self-report or have been described by authors as Australian Aboriginal. These are expected to be descendents of early human migration into Australia from Eastern Asia and can be distinguished from other Asian populations by mtDNA and Y chromosome variation. Aboriginal Australian Includes native populations of Alaska, Siberia, and the Aleutian Archipelago. This category does not include all native populations within the Arctic circle for example the Finnish Saami who are descended from Europeans and are therefore included within the European ancestry category. obsolete_Circumpolar people true Silk Road founder Israeli Arab Arab Israeli founder Cilento Individuals who have at least six great-grandparents born in the Central Valley of Costa Rica, to ensure descent from the founder population, composed primarily of Europeans and Native Americans PMID:25584925 Costa Rican founder French Canadian founder Italian founder Northern Finnish founder Romanian founder South Tyrolean Vis founder Split founder Population for which insufficient information is available to allocate it to a specific ancestral group or which contain individuals from a range of known ancestry categories, eg American undefined ancestry population African Caribbean Afro-Caribbean African American Talana Individuals who self-identify or are reported by authors as belonging to a group of indigenous Americans living in an area consisting of what is now central and southern Arizona, as well as northwestern Mexico in the states of Sonora and Chihuahua. The majority population of the two current bands of the Akimel O'odham in the United States are based in two reservations: the Keli Akimel Oʼodham on the Gila River Indian Community (GRIC) and the On'k Akimel O'odham on the Salt River Pima-Maricopa Indian Community (SRPMIC). Akimel O'otham Pima Pima Indian Akimel O'odham Individuals who self-identify or are reported by authors as belonging to the indigenous peoples who have historically lived on the Interior Plains (the Great Plains and Canadian Prairies) of North America Plains American Indian Plains Indians Kosraean Native Hawaiian Pacific Islander Yoruban West African Dai Chinese Hui Chinese Jingpo Chinese Malaysian Chinese Uigur Chinese Uygur Chinese Tibetan Han Taiwanese Taiwanese Han Sri Lankan Sinhalese Tatar Bashkir Includes individuals who either self-report or have been described by authors as Aboriginal Australian of Martu ancestry. The Martu Australian Aboriginal people are from the Western Desert region located across the Pilbara in Western Australia Mardu Aboriginal Australian Mardu Australian Aboriginal Martu Aboriginal Australian PMID:27070114 Martu Australian Aboriginal Jewish Israeli Punjabi Sikh American of European ancestry European American The Esan people are one of the major ethnic groups in Edo State, Nigeria who speak the Esan language. (PMID:10146569) Samples from this population were studied as part of the full 1000 Genomes project (https://www.coriell.org/1/NHGRI/Collections/1000-Genomes-Collections/Esan-in-Nigeria-ESN) obsolete Esan true The Luhya are the second-largest ethnic group in Kenya and are comprised of subgroups that speak a common Bantu language. (PMID: 27813082) The Luhya ancestry group was assembled as part of phase III of the HapMap project and used in a number of rare variant density studies (PMID:22373165, PMID:26673965) obsolete Luhya true The Maasai are an indigenous African ethnic group of semi-nomadic people located in northern Tanzania and Kenya. (PMID:29868928) The Maasai ancestry group was assembled as part of phase III of the HapMap project and used as reference in a range of population genetic studies (PMID:28049708). obsolete Maasai true The Mende people are one of the largest ethnic groups in Sierra Leone who speak a language of the Mande branch of the Niger-Congo family. (PMID:15761855) Samples from this population were studied as part of the full 1000 Genomes project (https://www.coriell.org/1/NHGRI/Collections/1000-Genomes-Collections/Mende-in-Sierra-Leone-MSL) obsolete Mende true Native people residing in the Arctic of Alaska, northern Canada, Greenland, or eastern Siberia PMID:25884279 PMID:29220501 Class previously labelled as "Eskimo", which is outdated and culturally inappropriate. Outdated label may be added as an appropriately flagged synonym at a later stage. Inuit Includes individuals with ethnic origins in the Semitic people populating the Arabian Peninsula and other countries in the Middle East and Northern Africa PMID:27393651 PMID:28106113 Arab Includes individuals who either self-report or have been described by authors as Singaporean Malay. PMID:19700652 PMID:31626772 Singaporean Malay Includes individuals who either self-report or have been described by authors as Singaporean Indian. PMID:19700652 PMID:31626772 Singaporean Indian An ethnicity descriptor is descriptor that qualifies a population term as relating to a social, cultural, reglious or tribal group ethnicity descriptor A geographic descriptor is descriptor that qualifies a population term as relating to a geographic location geographic descriptor Population category defined in terms of cultural, religious, tribal or other social similarities ethnic group ethnicity category Population category defined in relation to a geographic location. Geography-based population descriptors include most nationalities but the classification goes beyond nationalities, since geography-based groups can also include regional groups at sub-national (e.g. Welsh or Scottish) or supra-national level (e.g. Western European). geography-based population category Includes indigenous individuals of North and Central America, descended from the original human migration into the Americas from Siberia. American Indian Indigenous in North America Includes indigenous individuals of Central and South America, descended from the original human migration into the Americas from Siberia. Indigenous in South America Individuals who self-identify or are reported by authors as being of of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin. It should be noted that "Hispanic" is considered entirely as an ethnicity or cultural descriptor and is not associated with any specific genetic reference population. Hispanic Individuals who self-identify or are reported by authors as belonging to a group of indigenous people of Mexico inhabiting the central Mexican Plateau (Altiplano) region. Otomi Individuals who self-identify or are reported by authors as belonging to the Mayan ethnolinguistic group of indigenous peoples of Mesoamerica. Maya Individuals who self-identify or are reported by authors as belonging to the Zapotec ethnolinguistic group of indigenous people of Mexico. The Zapotec population is concentrated in the southern state of Oaxaca, but Zapotec communities also exist in neighboring states Zapoteco Individuals who self-identify or are reported by authors as belonging to the Mazatecan ethnolinguistic group of indigenous peoples in the area known as the Sierra Mazateca, which is in the northern part of the state of Oaxaca in southern Mexico, as well as in adjacent areas of the states of Puebla and Veracruz Mazateco Individuals who self-identify or are reported by authors as belonging to a group of indigenous people of the Americas living in the state of Chihuahua in Mexico Tarahumara Rarámuri Individuals who self-identify or are reported by authors as belonging to a group of the indigenous people of Mexico, El Salvador, Guatemala, Honduras, and Nicaragua Nahua Individuals who self-identify or are reported by authors as belonging to indigenous Mesoamerican peoples of Mexico inhabiting the region known as La Mixteca of Oaxaca and Puebla as well as La Montaña Region and Costa Chica Regions of the state of Guerrero Mixtec Mixteco Individuals who self-identify or are reported by authors as belonging to the Wayúu indigenous people of the Guajira Peninsula in northernmost part of Colombia and northwest Venezuela. Guajiro Wahiro Wayu Wayuu Wayúu Individuals who self-identify or are reported by authors as belonging to an Arawakan ethnolinguistic group in Colombia and Venezuela Piapoco Individuals who self-identify or are reported by authors as belonging to a group of indigenous people native to the Nariño region of southern Colombia and neighbouring Equador Pastos Individuals who self-identify or are reported by authors as belonging to a group of indigenous people of South America who speak the Quechua languages. Although most Quechua speakers are native to Peru, there are some significant populations in Ecuador, Bolivia, Chile, Colombia, and Argentina Quichua Quechua Individuals who self-identify or are reported by authors as belonging to a group of indigenous people in the Andes and Altiplano regions of South America; about 2.3 million live in northwest Argentina, Bolivia, Chile and Peru. Aimara Aymara Individuals who self-identify or are reported by authors as belonging to a group of South American indigenous people native to the Chilean Norte Chico and the Argentine Northwest. Diaguita Individuals who self-identify or are reported by authors as belonging to a group of indigenous people of present-day south-central Chile and southwestern Argentina, including parts of present-day Patagonia Mapuche Individuals who self-identify or are reported by authors as belonging to a group of culturally-related indigenous peoples of South America, living primarily in present-day Paraguay between the Paraná River and lower Paraguay River, the Misiones Province of Argentina, southern Brazil as far east as Rio de Janeiro, and parts of Uruguay and Bolivia. Guaraní-Mbyá Guaraní Individuals who self-identify or are reported by authors as belonging to an indigenous people of Brazil, who now live in three indigenous territories (Terras Indígenas in Portuguese), Caieiras Velhas, Pau-Brasil and Comboiosare, located near the cities of Santa Cruz and Vila do Riacho in the municipality of Aracruz in northern Espírito Santo state, southeastern Brazil. Topinaquis Tupinanquins Tupinaquis Tupiniquins Tupinã-ki Tupiniquim Individuals who self-identify or are reported by authors as belonging to an Chibchan-speaking indigenous people of Colombia, descended from the Tairona culture, concentrated in northern Colombia in the Sierra Nevada de Santa Marta. Ica Ika Arhuaco Individuals who self-identify or are reported by authors as belonging to an indigenous people living in the rainforests of Peru and in the State of Acre, Brazil. Their ancestral lands are in the forests of Junín, Pasco, Huánuco and part of Ucayali in Peru. Asháninca Asháninka