Abi-Rached, L., Gouret, P., Yeh, J. H., Di Cristofaro, J., Pontarotti, P., Picard, C., & Paganini, J. (2018). Immune diversity sheds light on missing variation in worldwide genetic diversity panels.
PLoS One, 13(10), e0206512.
https://doi.org/10.1371/journal.pone.0206512
Burger J, Kirchner M, Bramanti B, Haak W, Thomas MG (2007) Absence of the lactase-persistence-associated allele in early Neolithic Europeans.
Proceedings of the National Academy of Sciences, 104(10), 3736- 3741.
https://doi.org/10.1073/pnas.0607187104
Chen CH, Yang JH, Chiang CWK, Hsiung CN, Wu PE, Chang LC
et al. (2016) Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project.
Human Molecular Genetics, 25(24), 5321-5331.
https://doi.org/10.1093/hmg/ddw346
Choudhury, A., Aron, S., Botigué, L. R., Sengupta, D., Botha, G., Bensellak, T., ... & Hanchard, N. A. (2021) Author correction: High-depth African genomes inform human migration and health.
Nature, 592(7856), E26.
https://doi.org/10.1038/s41586-021-03286-9
Hütter, G., Nowak, D., Mossner, M., Ganepola, S., Müßig, A., Allers, K., ... & Thiel, E. (2009). Long-term control of HIV by CCR5 Delta32/Delta32 stem-cell transplantation.
New England Journal of Medicine, 360(7), 692-698.
https://doi.org/10.1056/nejmoa0802905
Deng, Z., Zhen, J., Harrison, G. F., Zhang, G., Chen, R., Sun, G., ... & Norman, P. J. (2021). Adaptive admixture of HLA class I allotypes enhanced genetically determined strength of natural killer cells in East Asians.
Molecular Biology Evolution, 38(6), 2582-2596.
https://doi.org/10.1093/molbev/msab053
Devos, M., Prawitt, J., Staumont-Salle, D., Hoste, E., Fleury, S., Bouchaert, E., ... & Declercq, W. (2012) Filaggrin degradation by caspase-14 is required for UVB photoprotection but does not influence allergic sensitization in a mouse model of atopic dermatitis.
Journal of Investigative Dermatology, 132(12), 2857- 2860.
https://doi.org/10.1038/jid.2012.236
Eaaswarkhanth, M., Xu, D., Flanagan, C., Rzhetskaya, M., Hayes, M. G., Blekhman, R., ... & Gokcumen, O. (2016) Atopic dermatitis susceptibility variants in Filaggrin Hitchhike Hornerin selective sweep.
Genome Biology and Evolution, 8(10), 3240-3255.
https://doi.org/10.1093/gbe/evw242
Evans, P. D., Anderson, J. R., Vallender, E. J., Gilbert, S. L., Malcom, C. M., Dorus, S., & Lahn, B. T. (2004). Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans.
Human Molecular Genetics, 13(5), 489-494.
https://doi.org/10.1093/hmg/ddh055
Evans, P. D., Gilbert, S. L., Mekel-Bobrov, N., Vallender, E. J., Anderson, J. R., Vaez-Azizi, L. M., ... & Lahn, B. T. (2005). Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans.
Science, 309(5741), 1717-1720.
https://doi.org/10.1126/science.1113722
Genovese, G., Friedman, D. J., Ross, M. D., Lecordier, L., Uzureau, P., Freedman, B. I., ... & Pollak, M. R. (2010) Association of trypanolytic ApoL1 variants with kidney disease in African Americans.
Science, 329(5993), 841-845.
https://doi.org/10.1126/science.1193032
Gerbault, P., Liebert, A., Itan, Y., Powell, A., Currat, M., Burger, J., ... & Thomas, M. G. (2011) Evolution of lactase persistence: An example of human niche construction.
Philosophical Transactions of the Royal Society B: Biological Sciences, 366(1566), 863-877.
https://doi.org/10.1098/rstb.2010.0268
Gintis, H. (2011). Gene-culture coevolution and the nature of human sociality.
Philosophical Transactions of the Royal Society B: Biological Sciences, 366(1566), 878-888.
https://doi.org/10.1098/rstb.2010.0310
Hancock, A. M., Clark, V. J., Qian, Y., & Di Rienzo, A. (2011). Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance.
Molecular Biology and Evolution, 28(1), 601-614.
https://doi.org/10.1093/molbev/msq228
He, J., Klag, M. J., Whelton, P. K., Chen, J. Y., Mo, J. P., Qian, M. C., ... & He, G. Q. (1991) Migration, blood pressure pattern, and hypertension: the Yi migrant study.
American Journal of Epidemiology, 134(10), 1085-1101.
https://doi.org/10.1093/oxfordjournals.aje.a116012
Hellenthal, G., Busby, G. B., Band, G., Wilson, J. F., Capelli, C., Falush, D., & Myers, S. (2014). A genetic atlas of human admixture history.
Science, 343(6172), 747-751.
https://doi.org/10.1126/science.1243518
Holden, C., & Mace, R. (1997). Phylogenetic analysis of the evolution of lactose digestion in adults. Human Biology,69(5), 605–628.
Holick, M. F. (2004). Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease.
The American Journal of Clinical Nutrition, 80(6), 1678S- 1688S.
https://doi.org/10.1093/ajcn/80.6.1678S
Huang, X., Wang, S., Jin, L., & He, Y. (2021) Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.
Biology Open, 10(2), bio056523.
https://doi.org/10.1242/bio.056523
Huerta-Sánchez, E., DeGiorgio, M., Pagani, L., Tarekegn, A., Ekong, R., Antao, T., ... & Nielsen, R. (2013) Genetic signatures reveal high-altitude adaptation in a set of Ethiopian populations.
Molecular Biology and Evolution, 30(8), 1877- 1888.
https://doi.org/10.1093/molbev/mst089
Han, Y., Gu, S., Oota, H., Osier, M. V., Pakstis, A. J., Speed, W. C., ... & Kidd, K. K. (2007) Evidence of positive selection on a class I ADH locus.
The American Journal of Human Genetics, 80, 441-456.
https://doi.org/10.1086/512485
Hunter, P. (2014). The genetics of human migrations: Our ancestors' migration out of Africa has left traces in our genomes that explain how they adapted to new environments.
EMBO Report, 15(10), 1019-1022.
https://doi.org/10.15252/embr.201439469
Ingram, C. J., Mulcare, C. A., Itan, Y., Thomas, M. G., & Swallow, D. M. (2009). Lactose digestion and the evolutionary genetics of lactase persistence.
Human Genetics, 124, 579-591.
https://doi.org/10.1007/s00439-008-0593-6
Ioannidis, J., Ntzani, E. E., Trikalinos, T. A., & Contopoulos-Ioannidis, D. G. (2001). Replication validity of genetic association studies.
Nature Genetics, 29(3), 306-309.
https://doi.org/10.1038/ng749
Jablonski, N. G., & Chaplin, G. (2018). The roles of vitamin D and cutaneous vitamin D production in human evolution and health.
International Journal of Paleopathology, 23, 54-59.
https://doi.org/10.1016/j.ijpp.2018.01.005
Johnson, C. M., Lyle, E. A., Omueti, K. O., Stepensky, V. A., Yegin, O., Alpsoy, E., ... & Tapping, R. I. (2007) Cutting edge: A common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy.
The Journal of Immunology, 178, 7520-7524.
https://doi.org/10.4049/jimmunol.178.12.7520
Jones, P., Lucock, M., Veysey, M., & Beckett, E. (2018). The vitamin D-folate hypothesis as an evolutionary model for skin pigmentation: an update and integration of current ideas.
Nutrients, 10(5), 554.
https://doi.org/10.3390/nu10050554
Ju, D., & Mathieson, I. (2021). The evolution of skin pigmentation-associated variation in West Eurasia.
Proceedings of the National Academy of Sciences, 118(1), e2009227118.
https://doi.org/10.1073/pnas.2009227118
Kamatani, Y., Wattanapokayakit, S., Ochi, H., Kawaguchi, T., Takahashi, A., Hosono, N., ... & Matsuda, K. (2009) A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.
Nature Genetics, 41, 591-595.
https://doi.org/10.1038/ng.348
Karlsson, E. K., Kwiatkowski, D. P., & Sabeti, P. C. (2014). Natural selection and infectious disease in human populations.
Nature Reviews Genetics, 15(6), 379-393.
https://doi.org/10.1038/nrg3734
Koboldt, D. C., Steinberg, K. M., Larson, D. E., Wilson, R. K., & Mardis, E. R. (2013). The next-generation sequencing revolution and its impact on genomics.
Cell, 155(1), 27-38.
https://doi.org/10.1016/j.cell.2013.09.006
Kuan, V., Martineau, A. R., Griffiths, C. J., Hyppönen, E., & Walton, R. (2013). DHCR7 mutations linked to higher vitamin D status allowed early human migration to northern latitudes.
BMC Evolutionary Biology, 13, 1-10.
https://doi.org/10.1186/1471-2148-13-144
Linz, B., Balloux, F., Moodley, Y., Manica, A., Liu, H., Roumagnac, P., ... & Achtman, M. (2007). An African origin for the intimate association between humans and
Helicobacter pylori.
Nature, 445(7130), 915-918.
https://doi.org/10.1038/nature05562
Lynch, N. R., Hagel, I. A., Palenque, M. E., Di Prisco, M. C., Escudero, J. E., Corao, L. A., ... & Le Souef, P. N. (1998). Relationship between helminthic infection and IgE response in atopic and nonatopic children in a tropical environment.
Journal of Allergy and Clinical Immunology, 101(2), 217-221.
https://doi.org/10.1016/S0091-6749(98)70386-0
Machulla, H. K., Batnasan, D., Steinborn, F., Uyar, F. A., SaruhanâDireskeneli, G., Oguz, F. S., ... & Dorak, M. T. (2003). Genetic affinities among Mongol ethnic groups and their relationship to Turks.
Tissue Antigens, 61(4), 292-299.
https://doi.org/10.1034/j.1399-0039.2003.00043.x
Maiden, M. C., Bygraves, J. A., Feil, E., Morelli, G., Russell, J. E., Urwin, R., ... & Spratt, B. G. (1998). Multilocus sequence typing: a portable approach to the identification of clones within populations of pathogenic microorganisms.
Proceedings of the National Academy of Sciences, 95(6), 3140-3145.
https://doi.org/10.1073/pnas.95.6.3140
Malyarchuk, B., Derenko, M., Denisova, G., Maksimov, A., Wozniak, M., Grzybowski, T., ... & Zakharov, I. (2011). Ancient links between Siberians and Native Americans revealed by subtyping the Y chromosome haplogroup Q1a.
Journal of Human Genetics, 56(8), 583-588.
https://doi.org/10.1038/jhg.2011.64
Manjurano, A., Sepulveda, N., Nadjm, B., Mtove, G., Wangai, H., Maxwell, C., ... & MalariaGEN Consortium. (2015). African glucose-6-phosphate dehydrogenase alleles associated with protection from severe malaria in heterozygous females in Tanzania.
PLoS Genetics, 11(2), e1004960.
https://doi.org/10.1371/journal.pgen.1004960
Marsh, K., Eaton, J. W., Mahy, M., Sabin, K., Autenrieth, C. S., Wanyeki, I., ... & Ghys, P. D. (2019). Global, regional and country-level 90-90-90 estimates for 2018: assessing progress towards the 2020 target.
Aids, 33, S213-S226.
https://doi.org/10.1097/QAD.0000000000002355
Mathias, R. A., Fu, W., Akey, J. M., Ainsworth, H. C., Torgerson, D. G., Ruczinski, I., ... & Chilton, F. H. (2012). Adaptive evolution of the FADS gene cluster within Africa.
PloS One, 7(9): e44926.
https://doi.org/10.1371/journal.pone.0044926
Mekel-Bobrov, N., Posthuma, D., Gilbert, S. L., Lind, P., Gosso, M. F., Luciano, M., ... & Lahn, B. T. (2007). The ongoing adaptive evolution of ASPM and Microcephalin is not explained by increased intelligence.
Human Molecular Genetics, 16(6), 600-608.
https://doi.org/10.1093/hmg/ddl487
Norris, E. T., Rishishwar, L., Chande, A. T., Conley, A. B., Ye, K., Valderrama-Aguirre, A., & Jordan, I. K. (2020). Admixture-enabled selection for rapid adaptive evolution in the Americas.
Genome Biology,
21, 1-12.
https://doi.org/10.1186/s13059-020-1946-2
Pasvol, G., Weatherall, D. J., & Wilson, R. J. M. (1977). Effects of foetal haemoglobin on susceptibility of red cells to
Plasmodium falciparum.
Nature, 270(5633), 171-173.
https://doi.org/10.1038/270171a0
Pennings, P. S., & Hermisson, J. (2006). Soft sweeps II-molecular population genetics of adaptation from recurrent mutation or migration.
Molecular Biology and Evolution, 23(5), 1076-1084.
https://doi.org/10.1093/molbev/msj117
Perry, G. H., Dominy, N. J., Claw, K. G., Lee, A. S., Fiegler, H., Redon, R., ... & Stone, A. C. (2007). Diet and the evolution of human amylase gene copy number variation.
Nature Genetics, 39(10), 1256-1260.
https://doi.org/10.1038/ng2123
Pollard, K. S., Salama, S. R., Lambert, N., Lambot, M. A., Coppens, S., Pedersen, J. S., ... & Haussler, D. (2006). An RNA gene expressed during cortical development evolved rapidly in humans.
Nature, 443(7108), 167-172.
https://doi.org/10.1038/nature05113
Prentice, A. M., Rayco-Solon, P., & Moore, S. E. (2005). Insights from the developing world: thrifty genotypes and thrifty phenotypes.
Proceedings of the Nutrition Society, 64(2), 153-161.
https://doi.org/10.1079/pns2005421
Prentice, A. M., Hennig, B. J., & Fulford, A. J. (2008). Evolutionary origins of the obesity epidemic: natural selection of thrifty genes or genetic drift following predation release?
International Journal of Obesity, 32(11), 1607-1610.
https://doi.org/10.1038/ijo.2008.147
Ranciaro, A., Campbell, M. C., Hirbo, J. B., Ko, W. Y., Froment, A., Anagnostou, P., ... & Tishkoff, S. A. (2014). Genetic origins of lactase persistence and the spread of pastoralism in Africa.
The American Journal of Human Genetics, 94(4), 496-510.
https://doi.org/10.1016/j.ajhg.2014.02.009
Savage, J. E., Jansen, P. R., Stringer, S., Watanabe, K., Bryois, J., De Leeuw, C. A., ... & Posthuma, D. (2018). Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
Nature Genetics, 50(7), 912-919.
https://doi.org/10.1038/s41588-018-0152-6
Sellayah, D., Cagampang, F. R., & Cox, R. D. (2014). On the evolutionary origins of obesity: a new hypothesis.
Endocrinology, 155(5), 1573-1588.
https://doi.org/10.1210/en.2013-2103
Sikela, J. M. (2006). The jewels of our genome: the search for the genomic changes underlying the evolutionarily unique capacities of the human brain.
PLoS Genetics, 2(5), e80.
https://doi.org/10.1371/journal.pgen.0020080
Simonson, T. S., Yang, Y., Huff, C. D., Yun, H., Qin, G., Witherspoon, D. J., ... & Ge, R. (2010). Genetic evidence for high-altitude adaptation in Tibet.
Science, 329(5987), 72-75.
https://doi.org/10.1126/science.1189406
Simoons, F. J. (1970). Primary adult lactose intolerance and the milking habit: a problem in biologic and cultural interrelations: II. A culture historical hypothesis.
The American Journal of Digestive Diseases, 15, 695-710.
https://doi.org/10.1007/BF02235991
Speakman, J. R. (2006). Thrifty genes for obesity and the metabolic syndrome-time to call off the search?
Diabetes and Vascular Disease Research, 3(1), 7-11.
https://doi.org/10.3132/dvdr.2006.010
Speakman, J. R. (2008). Thrifty genes for obesity, an attractive but flawed idea, and an alternative perspective: the ‘drifty gene’ hypothesis.
International Journal of Obesity, 32(11), 1611-1617.
https://doi.org/10.1038/ijo.2008.161
Su, A. I., Wiltshire, T., Batalov, S., Lapp, H., Ching, K. A., Block, D., ... & Hogenesch, J. B. (2004). A gene atlas of the mouse and human protein-encoding transcriptomes.
Proceedings of the National Academy of Sciences, 101(16), 6062-6067.
https://doi.org/10.1073/pnas.0400782101
Szilagyi, A. (2015). Adult lactose digestion status and effects on disease.
Canadian Journal of Gastroenterology and Hepatology, 29(3), 149-156.
https://doi.org/10.1155/2015/904686
Thiam, F., Diop, G., Coulonges, C., Derbois, C., Mbengue, B., Thiam, A., ... & Dieye, A. (2022). G6PD and HBB polymorphisms in the Senegalese population: prevalence, correlation with clinical malaria.
Peer J, 10, e13487.
https://doi.org/10.7717/peerj.13487
Thyssen, J. P., Bikle, D. D., & Elias, P. M. (2014). Evidence that loss-of-function filaggrin gene mutations evolved in northern Europeans to favor intracutaneous vitamin D3 production.
Evolutionary Biology, 41, 388-396.
https://doi.org/10.1007/s11692-014-9282-7
Turvey, S. E., & Hawn, T. R. (2006). Towards subtlety: understanding the role of Toll-like receptor signaling in susceptibility to human infections.
Clinical Immunology, 120(1), 1-9.
https://doi.org/10.1016/j.clim.2006.02.003
Usher, C. L., Handsaker, R. E., Esko, T., Tuke, M. A., Weedon, M. N., Hastie, A. R., ... & McCarroll, S. A. (2015). Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
Nature Genetics, 47(8), 921-925.
https://doi.org/10.1038/ng.3340
Vasan, R. S., Beiser, A., Seshadri, S., Larson, M. G., Kannel, W. B., D'Agostino, R. B., & Levy, D. (2002). Residual lifetime risk for developing hypertension in middle-aged women and men: the Framingham Heart Study.
Jama, 287(8), 1003-1010.
https://doi.org/10.1001/jama.287.8.1003
Wen, W., Cho, Y. S., Zheng, W., Dorajoo, R., Kato, N., Qi, L., ... & Shu, X. O. (2012). Meta-analysis identifies common variants associated with body mass index in east Asians.
Nature Genetics, 44(3), 307-311.
https://doi.org/10.1038/ng.1087
Wirth, T., Wang, X., Linz, B., Novick, R. P., Lum, J. K., Blaser, M., ... & Achtman, M. (2004). Distinguishing human ethnic groups by means of sequences from
Helicobacter pylori: lessons from Ladakh.
Proceedings of the National Academy of Sciences, 101(14), 4746-4751.
https://doi.org/10.1073/pnas.0306629101
Woods, R. P., Freimer, N. B., De Young, J. A., Fears, S. C., Sicotte, N. L., Service, S. K., ... & Mazziotta, J. C. (2006). Normal variants of Microcephalin and ASPM do not account for brain size variability.
Human Molecular Genetics, 15(12), 2025-2029.
https://doi.org/10.1093/hmg/ddl126
Wuren, T., Simonson, T. S., Qin, G., Xing, J., Huff, C. D., Witherspoon, D. J., ... & Ge, R. L. (2014). Shared and unique signals of high-altitude adaptation in geographically distinct Tibetan populations.
PLoS One, 9(3), e88252.
https://doi.org/10.1371/journal.pone.0088252
Xing, J., Wuren, T., Simonson, T. S., Watkins, W. S., Witherspoon, D. J., Wu, W., ... & Ge, R. L. (2013). Genomic analysis of natural selection and phenotypic variation in high-altitude Mongolians.
PLoS Genetics, 9(7), e1003634.
https://doi.org/10.1371/journal.pgen.1003634
Yasukochi, Y., Nishimura, T., Ugarte, J., Ohnishi, M., Nishihara, M., Alvarez, G., ... & Aoyagi, K. (2020). Effect of EGLN1 genetic polymorphisms on hemoglobin concentration in Andean highlanders.
BioMed Research International, 2020(1), 3436581.
https://doi.org/10.1155/2020/3436581
Young, J. H., Chang, Y. P. C., Kim, J. D. O., Chretien, J. P., Klag, M. J., Levine, M. A., ... & Chakravarti, A. (2005). Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion.
PLoS Genetics, 1(6), e82.
https://doi.org/10.1371/journal.pgen.0010082
Zeron-Medina, J., Wang, X., Repapi, E., Campbell, M. R., Su, D., Castro-Giner, F., ... & Bond, G. L. (2013). A polymorphic
p53 response element in KIT ligand influences cancer risk and has undergone natural selection.
Cell, 155(2), 410-422.
https://doi.org/10.1016/j.cell.2013.09.017