Human ancestry ontology for the NHGRI GWAS Catalog
obsolete hasEthnicPopulation
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.
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.
Population category defined using ancestry informative markers (AIMs) based on genetic/genomic data
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.
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.
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.
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.
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.
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
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.
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
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.
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.
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.
A population for which specific ancestry information is known but that does not fall into any of the defined ancestry categories
obsolete Latin America and the Caribbean
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
A population with increased genetic homogeneity and reduced genetic variation due to cultural or geographic isolation
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
obsolete_Caribbean
Sudanese
obsolete Sahrawi
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
Surinamese
Trinidadian or Tobagonian
Turks and Caicos Islander
Virgin Islander
Uruguayan
Venezuelan
Algerian
Armenian
Azerbaijani
Bahraini
Cypriote
obsolete Egyptian
Georgian
Iranian
Iraqi
Israeli
Jordanian
Kuwaiti
Lebanese
Libyan
Moroccan
Palestinian
Omani
Qatari
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
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
Mauritanian
Mauritian
Mahoran
Namibian
Sao Tomean
Senegalese
obsolete Seychellois
Sierra Leonean
obsolete Somali
South African
St. Helenian
Ugandan
Angolan
Beninese
Motswana
Burkinabe
Burundian
obsolete Central African
Comoran
Congolese
Ivoirian
Djiboutian
Equatorial Guinean
Eritrean
Gabonese
Gambian
Ghanaian
Guinean
Bissau-Guinean
Mosotho
Malawian
Malian
Mozambican
Nigerien
Nigerian
Rwandan
obsolete Swazi
Togolese
Tanzanian
Zambian
Zimbabweian
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.
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.
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
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
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).
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
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
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
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
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
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
Native people residing in the Arctic of Alaska, northern Canada, Greenland, or eastern Siberia
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.
Includes individuals with ethnic origins in the Semitic people populating the Arabian Peninsula and other countries in the Middle East and Northern Africa
Includes individuals who either self-report or have been described by authors as Singaporean Malay.
Includes individuals who either self-report or have been described by authors as 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
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.
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
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
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.
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
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.
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
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.
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
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.
Asháninka