Indigenous |
American continent |
Lower LDL cholesterol |
Indigenous ancestries |
Acuña-Alonzo et al. (2010Acuña-Alonzo V, Flores-Dorantes T, Kruit JK, Villarreal-Molina T, Arellano-Campos O, Hünemeier T, Moreno-Estrada A, Ortiz-López MG, Villamil-Ramírez H, León-Mimila P et al. (2010) A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans. Hum Mol Genet 19:2877-2885.) Sohail et al. (2023Sohail M, Palma-Martínez MJ, Chong AY, Quinto-Cortés CD, Barberena-Jonas C, Medina-Muñoz SG, Ragsdale A, Delgado-Sánchez G, Cruz-Hervert LP, Ferreyra-Reyes L et al. (2023) Mexican Biobank advances population and medical genomics of diverse ancestries. Nature 622:775-783.) |
Admixed |
USA, Mexico, Peru, Chile, Argentina |
Systemic lupus erythematosus |
IRF5/TNPO3
|
Alarcón-Riquelme et al. (2016Alarcón-Riquelme ME, Ziegler JT, Molineros J, Howard TD, Moreno-Estrada A, Sánchez-Rodríguez E, Ainsworth HC, Ortiz-Tello P, Comeau ME, Rasmussen A et al. (2016) Genome-wide association study in an Amerindian ancestry population reveals novel systemic lupus erythematosus risk loci and the role of European admixture. Arthritis Rheumatol Hoboken NJ 68:932-943.) Langefeld et al. (2017Langefeld CD, Ainsworth HC, Graham DSC, Kelly JA, Comeau ME, Marion MC, Howard TD, Ramos PS, Croker JA, Morris DL et al. (2017) Transancestral mapping and genetic load in systemic lupus erythematosus. Nat Commun 8:16021.) |
Tsimshian |
Canada (British Columbia) |
Smallpox |
HLA-DQA1
|
Lindo et al. (2016Lindo J, Huerta-Sánchez E, Nakagome S, Rasmussen M, Petzelt B, Mitchell J, Cybulski JS, Willerslev E, DeGiorgio M and Malhi RS (2016) A time transect of exomes from a Native American population before and after European contact. Nat Commun 7:13175.) |
Indigenous |
USA (Arizona) |
Pubertal traits |
NUDT3, PACSIN1
|
Ramirez-Luzuriaga et al. (2024Ramirez-Luzuriaga MJ, Kobes S, Hsueh WC, Baier LJ and Hanson RL (2024) Novel signals and polygenic score for height are associated with pubertal growth traits in Southwestern American Indians. Hum Mol Genet 33:981-990.) |
Indigenous |
USA (California) |
Alcohol use disorders |
PRKG2, FSTL5
|
Peng et al. (2019Peng Q, Bizon C, Gizer IR, Wilhelmsen KC and Ehlers CL (2019) Genetic loci for alcohol-related life events and substance-induced affective symptoms: Indexing the “dark side” of addiction. Transl Psychiatry 9:71.) |
Pima |
USA |
Type 2 diabetes |
DNER
|
Hanson et al. (2014Hanson RL, Muller YL, Kobes S, Guo T, Bian L, Ossowski V, Wiedrich K, Sutherland J, Wiedrich C, Mahkee D et al. (2014) A Genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes. Diabetes 63:369-376.) |
Pima |
USA |
Chronic renal disease |
BCL2L11
|
Brown et al. (2017Brown LA, Sofer T, Stilp AM, Baier LJ, Kramer HJ, Masindova I, Levy D, Hanson RL, Moncrieft AE, Redline S et al. (2017) Admixture mapping identifies an Amerindian ancestry locus associated with albuminuria in Hispanics in the United States. J Am Soc Nephrol 28:2211-2220.) |
Admixed |
USA |
Chronic renal disease |
BCL2L11
|
Brown et al. (2017Brown LA, Sofer T, Stilp AM, Baier LJ, Kramer HJ, Masindova I, Levy D, Hanson RL, Moncrieft AE, Redline S et al. (2017) Admixture mapping identifies an Amerindian ancestry locus associated with albuminuria in Hispanics in the United States. J Am Soc Nephrol 28:2211-2220.) |
Admixed |
USA (California) |
Acute lymphoblastic leukemia |
PDE4B, Indigenous ancestries |
Yang et al. (2011Yang JJ, Cheng C, Devidas M, Cao X, Fan Y, Campana D, Yang W, Neale G, Cox NJ, Scheet P et al. (2011) Ancestry and pharmacogenomics of relapse in acute lymphoblastic leukemia. Nat Genet 43:237-241.) |
Admixed USA Mexicans |
USA |
Short stature |
Indigenous ancestries |
Spear et al. (2020Spear ML, Diaz-Papkovich A, Ziv E, Yracheta JM, Gravel S, Torgerson DG and Hernandez RD (2020) Recent shifts in the genomic ancestry of Mexican Americans may alter the genetic architecture of biomedical traits. eLife 9:e56029.) |
Admixed USA Mexicans |
USA |
High triglyceride & glucose levels (metabolic disorders) |
Indigenous ancestries |
Spear et al. (2020Spear ML, Diaz-Papkovich A, Ziv E, Yracheta JM, Gravel S, Torgerson DG and Hernandez RD (2020) Recent shifts in the genomic ancestry of Mexican Americans may alter the genetic architecture of biomedical traits. eLife 9:e56029.) Ko et al. (2014Ko A, Cantor RM, Weissglas-Volkov D, Nikkola E, Reddy PMVL, Sinsheimer JS, Pasaniuc B, Brown R, Alvarez M, Rodriguez A et al. (2014) Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. Nat Commun 5:3983.) |
Admixed USA Mexicans |
USA |
Type 2 diabetes in obese women |
Indigenous ancestries |
Hu et al. (2015Hu H, Huff CD, Yamamura Y, Wu X and Strom SS (2015) The relationship between Native American ancestry, body mass index and diabetes risk among Mexican-Americans. PLoS One 10:e0141260.) |
Indigenous |
Mexico |
Lung function |
Indigenous subancestry (West-East cline) |
Moreno-Estrada et al. (2014Moreno-Estrada A, Gignoux CR, Fernández-López JC, Zakharia F, Sikora M, Contreras AV, Acuña-Alonzo V, Sandoval K, Eng C, Romero-Hidalgo S et al. (2014) The genetics of Mexico recapitulates Native American substructure and affects biomedical traits. Science 344:1280-1285.) |
Indigenous |
Mexico |
Neuromyelitis optica |
HLA
|
Romero-Hidalgo et al. (2020Romero-Hidalgo S, Flores-Rivera J, Rivas-Alonso V, Barquera R, Villarreal-Molina MT, Antuna-Puente B, Macias-Kauffer LR, Villalobos-Comparán M, Ortiz-Maldonado J, Yu N et al. (2020) Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population. Sci Rep 10:13706.) |
Mayan, Tojolabal |
Mexico |
Shorter stature than Northern Mexico |
Indigenous subancestry |
Sohail et al. (2023Sohail M, Palma-Martínez MJ, Chong AY, Quinto-Cortés CD, Barberena-Jonas C, Medina-Muñoz SG, Ragsdale A, Delgado-Sánchez G, Cruz-Hervert LP, Ferreyra-Reyes L et al. (2023) Mexican Biobank advances population and medical genomics of diverse ancestries. Nature 622:775-783.) |
Mayan, Tojolabal |
Mexico |
Higher triglyceride & glucose levels than Northern Mexico |
Indigenous subancestry |
Sohail et al. (2023Sohail M, Palma-Martínez MJ, Chong AY, Quinto-Cortés CD, Barberena-Jonas C, Medina-Muñoz SG, Ragsdale A, Delgado-Sánchez G, Cruz-Hervert LP, Ferreyra-Reyes L et al. (2023) Mexican Biobank advances population and medical genomics of diverse ancestries. Nature 622:775-783.) |
Mazateco |
Mexico |
Systemic lupus erythematosus |
IRF5
|
Reddy et al. (2007Reddy MVPL, Velázquez-Cruz R, Baca V, Lima G, Granados J, Orozco L and Alarcón-Riquelme ME (2007) Genetic association of IRF5 with SLE in Mexicans: Higher frequency of the risk haplotype and its homozygozity than Europeans. Hum Genet 121:721-727.) |
Admixed |
Mexico |
Lower HDL cholesterol |
ABC1*C230, Indigenous ancestries |
Spear et al. (2020Spear ML, Diaz-Papkovich A, Ziv E, Yracheta JM, Gravel S, Torgerson DG and Hernandez RD (2020) Recent shifts in the genomic ancestry of Mexican Americans may alter the genetic architecture of biomedical traits. eLife 9:e56029.) Sohail et al. (2023Sohail M, Palma-Martínez MJ, Chong AY, Quinto-Cortés CD, Barberena-Jonas C, Medina-Muñoz SG, Ragsdale A, Delgado-Sánchez G, Cruz-Hervert LP, Ferreyra-Reyes L et al. (2023) Mexican Biobank advances population and medical genomics of diverse ancestries. Nature 622:775-783.) |
Admixed |
Mexico, USA |
Type 2 diabetes |
SLC16A11
|
Williams et al. (2014Williams AL , Jacobs SBR , Moreno-Macías H , Huerta-Chagoya A , Churchhouse C , Márquez-Luna C , García-Ortíz H , José Gómez-Vázquez M, Burtt NP, Aguilar-Salinas CA et al. (2014) Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature 506:97-101.) Romero-Hidalgo et al. (2020Romero-Hidalgo S, Flores-Rivera J, Rivas-Alonso V, Barquera R, Villarreal-Molina MT, Antuna-Puente B, Macias-Kauffer LR, Villalobos-Comparán M, Ortiz-Maldonado J, Yu N et al. (2020) Native American ancestry significantly contributes to neuromyelitis optica susceptibility in the admixed Mexican population. Sci Rep 10:13706.) |
Admixed |
Puerto Rico |
Lung function |
SLIT3, Indigenous ancestries |
Lee et al. (2020Lee EY, Mak ACY, Hu D, Sajuthi S, White MJ, Keys KL, Eckalbar W, Bonser L, Huntsman S, Urbanek C et al. (2020) Whole-genome sequencing identifies novel functional loci associated with lung function in Puerto Rican youth. Am J Respir Crit Care Med 202:962-972.) |
Admixed |
Central America (El Salvador, Guatemala, Honduras, Nicaragua) |
Type 2 diabetes |
EPHB1, KY; Indigenous ancestries |
Horimoto et al. (2022Horimoto ARVR, Sun Q, Lash JP, Daviglus ML, Cai J, Haack K, Cole SA, Thornton TA, Browning SR and Franceschini N (2022) Admixture mapping screening of CKD traits and risk factors in U.S. Hispanic/Latino individuals from Central America country-of-origin. medRxiv. DOI: 10.1101/2022.06.17.22276554. https://doi.org/10.1101/2022.06.17.22276...
) |
Admixed |
Peru (Lima) |
Pulmonary Tuberculosis |
ATP1B3, Indigenous ancestries; eQTLs |
Luo et al. (2019Luo Y, Suliman S, Asgari S, Amariuta T, Baglaenko Y, Martínez-Bonet M, Ishigaki K, Gutierrez-Arcelus M, Calderon R, Lecca L et al. (2019) Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians. Nat Commun 10:3765.) Asgari et al. (2022Asgari S, Luo Y, Huang CC, Zhang Z, Calderon R, Jimenez J, Yataco R, Contreras C, Galea JT, Lecca L et al. (2022) Higher native Peruvian genetic ancestry proportion is associated with tuberculosis progression risk. Cell Genom 2:100151.) Nathan et al. (2022Nathan A, Asgari S, Ishigaki K, Valencia C, Amariuta T, Luo Y, Beynor JI, Baglaenko Y, Suliman S, Price AL et al. (2022) Single-cell eQTL models reveal dynamic T cell state dependence of disease loci. Nature 606:120-128.) |
Admixed |
Peru (Lima) |
Short stature |
FBN1
|
Asgari et al. (2020Asgari S, Luo Y, Akbari A, Belbin GM, Li X, Harris DN, Selig M, Bartell E, Calderon R, Slowikowski K et al. (2020) A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582: 234-239.) |
Aymara-Quechua-Uro |
Peru (Puno) |
Preeclampsia |
PROZ, F7, F10
|
Nieves-Colón et al. (2022Nieves-Colón MA, Badillo Rivera KM, Sandoval K, Villanueva Dávalos V, Enriquez Lencinas LE, Mendoza-Revilla J, Adhikari K, González-Buenfil R, Chen JW, Zhang ET et al. (2022) Clotting factor genes are associated with preeclampsia in high-altitude pregnant women in the Peruvian Andes. Am J Hum Genet 109:1117-1139.) |
Admixed |
Chile |
Newborn death due to pregnancy disorders |
Indigenous subancestry (Aymara-Quechua) |
Koenigstein et al. (2021Koenigstein F, Boekstegers F, Wilson JF, Fuentes-Guajardo M, Gonzalez-Jose R, Bedoya G, Bortolini MC, Acuña-Alonzo V, Gallo C, Ruiz Linares A et al. (2021) Inbreeding, Native American ancestry and child mortality: Linking human selection and paediatric medicine. Hum Mol Genet 31:975-984.) |
Admixed |
Chile |
Gallbladder disease |
ACBG8, Indigenous subancestry (Mapuche) |
Bustos et al. (2019Bustos BI, Pérez-Palma E, Buch S, Azócar L, Riveras E, Ugarte GD, Toliat M, Nürnberg P, Lieb W, Franke A et al. (2019) Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry. Sci Rep 9:772.) |
Admixed |
Chile |
Gallbladder, stomach & esophagus cancers |
Indigenous subancestry (Mapuche) |
Lorenzo-Bermejo et al. (2017Lorenzo-Bermejo J, Boekstegers F, González Silos R, Marcelain K, Baez Benavides P, Barahona Ponce C, Müller B, Ferreccio C, Koshiol J, Fischer C et al. (2017) Subtypes of Native American ancestry and leading causes of death: Mapuche ancestry-specific associations with gallbladder cancer risk in Chile. PLoS Genet 13:e1006756.) |
Admixed |
Chile |
Early pubertal onset |
Indigenous subancestry (Mapuche) |
Vicuña et al. (2021Vicuña L, Norambuena T, Miranda JP, Pereira A, Mericq V, Ongaro L, Montinaro F, Santos JL and Eyheramendy S (2021) Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys. Hum Genet 140:1651-1661.) Vicuña et al. (2023) |
Admixed |
Chile |
Pulmonary diseases |
Indigenous subancestry (Mapuche) |
Lorenzo-Bermejo et al. (2017Lorenzo-Bermejo J, Boekstegers F, González Silos R, Marcelain K, Baez Benavides P, Barahona Ponce C, Müller B, Ferreccio C, Koshiol J, Fischer C et al. (2017) Subtypes of Native American ancestry and leading causes of death: Mapuche ancestry-specific associations with gallbladder cancer risk in Chile. PLoS Genet 13:e1006756.) |
Admixed |
Chile, Peru, Brazil, Colombia, Mexico |
Nose morphology |
EDAR, PAX3, DCHS2, SUPT3H/RUNX2, GLI3, PAX1; Mapuche subancestry relative to Central Andean subancestry |
Adhikari et al. (2016Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, Mendoza-Revilla J, Camilo Chacón-Duque J, Acuña-Alonzo V, Jaramillo C, Arias W, Lozano RB, Pérez GM et al. (2016) A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nat Commun 7:11616.) Bonfante et al. (2021Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P et al. (2021) A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. Sci Adv 7:eabc6160.) Chacón-Duque et al. (2018Chacón-Duque J-C, Adhikari K, Fuentes-Guajardo M, Mendoza-Revilla J, Acuña-Alonzo V, Barquera R, Quinto-Sánchez M, Gómez-Valdés J, Everardo Martínez P, Villamil-Ramírez H et al. (2018) Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance. Nat Commun 9:5388.) |