{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T11:38:29Z","timestamp":1790941109270,"version":"4.1.0"},"reference-count":83,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.mdpi.com"],"crossmark-restriction":true},"short-container-title":["IJMS"],"abstract":"<jats:p>Tuberculosis (TB) is one of the leading infectious causes of mortality worldwide. Although a significant proportion of the population (up to 36%, depending on the region) is infected with the latent form of TB, only about one in ten of these people will develop an active form of the disease in their lifetime. This is due to a complex interaction between the host\u2019s genetic predisposition and environment. However, the genetic determinants of TB are not well established and have been insufficiently explored in previous genome-wide association studies (GWAS) with sparse and incongruent results. We reviewed recent evidence on host genetic susceptibility to TB, highlighting population-specific characteristics, host\u2013pathogen coevolution, and the limitations of conventional GWAS approaches in terms of clinical and genetic heterogeneity. While rare variants with high penetrance, such as TYK2 P1104A, lead to monogenic susceptibility, most heritable risk results from the cumulative effect of numerous common variants. This cumulative effect may be summarized using polygenic risk scores (PRSs). Although their use has been proven for non-communicable diseases, PRSs are not applied to infectious disease susceptibility. To date, no PRS model for susceptibility to tuberculosis has been consistently validated. The development of PRSs for TB susceptibility is limited by phenotypic heterogeneity, population structure, and co-adaptation between host and pathogen. Another major challenge is to take into account the considerable influence of environmental factors. This difficulty in modeling environmental influences probably explains the current lack of a clinically applicable PRS for TB susceptibility. However, taking these caveats into account, polygenic models could improve risk stratification at the individual level compared to single-variant association and allow for earlier targeted treatment and prophylaxis.<\/jats:p>","DOI":"10.3390\/ijms26199544","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T15:38:55Z","timestamp":1759246735000},"page":"9544","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic Susceptibility to Tuberculosis and the Utility of Polygenic Scores in Population Stratification"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-2225-3957","authenticated-orcid":false,"given":"Mariia A.","family":"Dashian","sequence":"first","affiliation":[{"name":"Federal State Budgetary Institution \u2018Centre for Strategic Planning and Management of Biomedical Health Risks\u2019 of the Federal Medical and Biological Agency, 119121 Moscow, Russia"},{"name":"Department of Biomedicine, Pirogov Medical University, 117997 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3668-6601","authenticated-orcid":false,"given":"German A.","family":"Shipulin","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Centre for Strategic Planning and Management of Biomedical Health Risks\u2019 of the Federal Medical and Biological Agency, 119121 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei A.","family":"Deviatkin","sequence":"additional","affiliation":[{"name":"Federal State Budgetary Institution \u2018Centre for Strategic Planning and Management of Biomedical Health Risks\u2019 of the Federal Medical and Biological Agency, 119121 Moscow, Russia"},{"name":"Laboratory of Postgenomic Technologies, Izmerov Research Institute of Occupational Health, 105275 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Alene, M., Yismaw, L., Assemie, M.A., Ketema, D.B., Mengist, B., Kassie, B., and Birhan, T.Y. (2021). Magnitude of asymptomatic COVID-19 cases throughout the course of infection: A systematic review and meta-analysis. PLoS ONE, 16.","DOI":"10.1371\/journal.pone.0249090"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1089\/vbz.2014.1747","article-title":"Results of the Screening of Tick-Borne Encephalitis Virus Antibodies in Human Sera from Eight Districts Collected Two Decades Apart","volume":"15","author":"Kriz","year":"2015","journal-title":"Vector-Borne Zoonotic Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1080\/00365540701522934","article-title":"A newly detected tick-borne encephalitis (TBE) focus in south-east Sweden: A follow-up study of TBE virus (TBEV) seroprevalence","volume":"40","author":"Stjernberg","year":"2008","journal-title":"Scand. J. Infect. Dis."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/jmv.25316","article-title":"Ability of inactivated vaccines based on far-eastern tick-borne encephalitis virus strains to induce humoral immune response in originally seropositive and seronegative recipients","volume":"91","author":"Maikova","year":"2018","journal-title":"J. Med. Virol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"206","DOI":"10.4269\/ajtmh.2012.11-0689","article-title":"Evidence of rabies virus exposure among humans in the Peruvian Amazon","volume":"87","author":"Gilbert","year":"2012","journal-title":"Am. J. Trop. Med. Hyg."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1017\/S0950268800051554","article-title":"Survey of fox trappers in northern Alaska for rabies antibody","volume":"113","author":"Follmann","year":"1994","journal-title":"Epidemiol. Infect."},{"key":"ref_7","unstructured":"World Health Organization (2024). Global Tuberculosis Report, World Health Organization."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1146\/annurev-immunol-032712-095939","article-title":"The immune response in tuberculosis","volume":"31","author":"Redford","year":"2013","journal-title":"Annu. Rev. Immunol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1900655","DOI":"10.1183\/13993003.00655-2019","article-title":"The global prevalence of latent tuberculosis: A systematic review and meta-analysis","volume":"54","author":"Cohen","year":"2019","journal-title":"Eur. Respir. J."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1289\/ehp.9806","article-title":"Environmental determinants of infectious disease: A framework for tracking causal links and guiding public health research","volume":"115","author":"Eisenberg","year":"2007","journal-title":"Environ. Health Perspect."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/S0952-7915(97)80103-3","article-title":"The impact of host genetics on susceptibility to human infectious diseases","volume":"9","author":"Abel","year":"1997","journal-title":"Curr. Opin. Immunol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1177\/10454411970080040501","article-title":"Tobacco and smoking: Environmental factors that modify the host response (immune system) and have an impact on periodontal health","volume":"8","author":"Borbour","year":"1997","journal-title":"Crit. Rev. Oral Biol. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"166340","DOI":"10.1016\/j.scitotenv.2023.166340","article-title":"The impact of air pollution on respiratory diseases in an era of climate change: A review of the current evidence","volume":"898","author":"Tran","year":"2023","journal-title":"Sci. Total. Environ."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Guarnieri, G., Olivieri, B., Senna, G., and Vianello, A. (2023). Relative Humidity and Its Impact on the Immune System and Infections. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24119456"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"3066","DOI":"10.1080\/10408398.2020.1792826","article-title":"Nutrition and immune system: From the Mediterranean diet to dietary supplementary through the microbiota","volume":"61","author":"Barrea","year":"2020","journal-title":"Crit. Rev. Food Sci. Nutr."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e01960","DOI":"10.1002\/brb3.1960","article-title":"Molecular links between endocrine, nervous and immune system during chronic stress","volume":"11","author":"Zefferino","year":"2020","journal-title":"Brain Behav."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.cell.2014.12.020","article-title":"Variation in the human immune system is largely driven by non-heritable influences","volume":"160","author":"Brodin","year":"2015","journal-title":"Cell"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Fox, G.J., Orlova, M., and Schurr, E. (2016). Tuberculosis in Newborns: The Lessons of the \u201cL\u00fcbeck Disaster\u201d (1929\u20131933). PLoS Pathog., 12.","DOI":"10.1371\/journal.ppat.1005271"},{"key":"ref_19","first-page":"207","article-title":"Der erbeinfluss bei der tuberkulose (zwillingstuberkulose II)","volume":"29","author":"Hill","year":"1937","journal-title":"Eugen. Rev."},{"key":"ref_20","first-page":"621","article-title":"Tuberculosis in twins: A re-analysis of the Prophit survey","volume":"117","author":"Comstock","year":"1978","journal-title":"Am. Rev. Respir. Dis."},{"key":"ref_21","first-page":"215","article-title":"The immunogenetics of tuberculosis (TB) susceptibility","volume":"75","author":"Smith","year":"2022","journal-title":"Immunogenetics"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Lee, J.-Y., Kwon, N., Goo, G.-Y., and Cho, S.-I. (2022). Inadequate housing and pulmonary tuberculosis: A systematic review. BMC Public Health, 22.","DOI":"10.1186\/s12889-022-12879-6"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.eimc.2017.10.015","article-title":"Pathogenesis of tuberculosis and other mycobacteriosis","volume":"36","author":"Cardona","year":"2018","journal-title":"Enfermedades Infecc. Microbiol. Clin."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e84394","DOI":"10.7554\/eLife.84394","article-title":"Multi-ancestry meta-analysis of host genetic susceptibility to tuberculosis identifies shared genetic architecture","volume":"13","author":"Schurz","year":"2024","journal-title":"eLife"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1099\/ijsem.0.002507","article-title":"Phylogenomic analysis of the species of the mycobacterium tuberculosis complex demonstrates that mycobacterium africanum, mycobacterium bovis, mycobacterium caprae, mycobacterium microti and mycobacterium pinnipedii are later heterotypic synonyms of mycobacterium tuberculosis","volume":"68","author":"Riojas","year":"2018","journal-title":"Int. J. Syst. Evol. Microbiol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1016\/j.ygeno.2021.04.024","article-title":"A multi-phenotype genome-wide association study of clades causing tuberculosis in a Ghanaian- and South African cohort","volume":"113","author":"Schurz","year":"2021","journal-title":"Genomics"},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Correa-Macedo, W., Cambri, G., and Schurr, E. (2019). The Interplay of Human and Mycobacterium Tuberculosis Genomic Variability. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.00865"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1093\/infdis\/jit443","article-title":"Associations between human leukocyte antigen class I variants and the mycobacterium tuberculosis subtypes causing disease","volume":"209","author":"Salie","year":"2013","journal-title":"J. Infect. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"8136","DOI":"10.1073\/pnas.1424063112","article-title":"Southern East Asian origin and coexpansion of Mycobacterium tuberculosis Beijing family with Han Chinese","volume":"112","author":"Luo","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1073\/pnas.0511240103","article-title":"Variable host\u2013pathogen compatibility in Mycobacterium tuberculosis","volume":"103","author":"Gagneux","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Otchere, I.D., Coscoll\u00e1, M., S\u00e1nchez-Bus\u00f3, L., Asante-Poku, A., Brites, D., Loiseau, C., Meehan, C., Osei-Wusu, S., Forson, A., and Laryea, C. (2018). Comparative genomics of Mycobacterium africanum Lineage 5 and Lineage 6 from Ghana suggests distinct ecological niches. Sci. Rep., 8.","DOI":"10.1038\/s41598-018-29620-2"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"e74419","DOI":"10.7554\/eLife.74419","article-title":"Host-pathogen genetic interactions underlie tuberculosis susceptibility in genetically diverse mice","volume":"11","author":"Smith","year":"2022","journal-title":"eLife"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng.1080","article-title":"Common variants at 11p13 are associated with susceptibility to tuberculosis","volume":"44","author":"Thye","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Daya, M., van der Merwe, L., Gignoux, C.R., van Helden, P.D., M\u00f6ller, M., and Hoal, E.G. (2014). Using multi-way admixture mapping to elucidate TB susceptibility in the South African Coloured population. BMC Genom., 15.","DOI":"10.1186\/1471-2164-15-1021"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Schurz, H., Kinnear, C.J., Gignoux, C., Wojcik, G., van Helden, P.D., Tromp, G., Henn, B., Hoal, E.G., and M\u00f6ller, M. (2019). A sex-stratified genome-wide association study of tuberculosis using a multi-ethnic genotyping array. Front. Genet., 9.","DOI":"10.3389\/fgene.2018.00678"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1093\/hmg\/ddt462","article-title":"Genome-wide association study of ancestry-specific TB risk in the South African coloured population","volume":"23","author":"Chimusa","year":"2013","journal-title":"Human Mol. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1038\/ng.3248","article-title":"Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration","volume":"47","author":"Curtis","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.meegid.2018.06.022","article-title":"An HLA class II locus, previously identified by a genome-wide association study, is also associated with susceptibility to pulmonary tuberculosis in a Chinese population","volume":"64","author":"Miao","year":"2018","journal-title":"Infect. Genet. Evol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/jhg.2012.35","article-title":"Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis","volume":"57","author":"Mahasirimongkol","year":"2012","journal-title":"J. Human Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4752","DOI":"10.1093\/hmg\/ddx365","article-title":"Discovery of susceptibility loci associated with tuberculosis in Han Chinese","volume":"26","author":"Qi","year":"2017","journal-title":"Human Mol. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/ng.639","article-title":"Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2","volume":"42","author":"Thye","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Quistrebert, J., Orlova, M., Kerner, G., Ton, L.T., Luong, N.T., Danh, N.T., Vincent, Q.B., Jabot-Hanin, F., Seeleuthner, Y., and Bustamante, J. (2021). Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations. PLoS Genet., 17.","DOI":"10.1371\/journal.pgen.1009392"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/ng.3498","article-title":"HLA class II sequence variants influence tuberculosis risk in populations of European ancestry","volume":"48","author":"Sveinbjornsson","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Hong, E.P., Go, M.J., Kim, H.-L., and Park, J.W. (2017). Risk prediction of pulmonary tuberculosis using genetic and conventional risk factors in adult Korean population. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0174642"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2377","DOI":"10.1016\/j.ygeno.2021.05.035","article-title":"A next generation sequencing combined genome-wide association study identifies novel tuberculosis susceptibility loci in Chinese population","volume":"113","author":"Li","year":"2021","journal-title":"Genomics"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"3765","DOI":"10.1038\/s41467-019-11664-1","article-title":"Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians","volume":"10","author":"Luo","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"4072","DOI":"10.1038\/s41467-018-06539-w","article-title":"Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese","volume":"9","author":"Zheng","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s00439-016-1633-2","article-title":"A genome-wide association study of pulmonary tuberculosis in Morocco","volume":"135","author":"Grant","year":"2016","journal-title":"Human Genet."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Png, E., Alisjahbana, B., Sahiratmadja, E., Marzuki, S., Nelwan, R., Balabanova, Y., Nikolayevskyy, V., Drobniewski, F., Nejentsev, S., and Adnan, I. (2012). A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. BMC Med. Genet., 13.","DOI":"10.1186\/1471-2350-13-5"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/s41467-017-00257-5","article-title":"Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections","volume":"8","author":"Tian","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s12931-020-01612-9","article-title":"Gene expression pattern analysis using dual-color RT-MLPA and integrative genome-wide association studies of eQTL for tuberculosis suscepitibility","volume":"22","author":"Ai","year":"2021","journal-title":"Respir. Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1097\/MCP.0000000000000672","article-title":"Human global and population-specific genetic susceptibility to Mycobacterium tuberculosis infection and disease","volume":"26","author":"Kinnear","year":"2020","journal-title":"Curr. Opin. Pulm. Med."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Harishankar, M., Selvaraj, P., and Bethunaickan, R. (2018). Influence of genetic polymorphism towards pulmonary tuberculosis susceptibility. Front. Med., 5.","DOI":"10.3389\/fmed.2018.00213"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"3343","DOI":"10.1128\/IAI.00443-12","article-title":"Innate immune gene polymorphisms in tuberculosis","volume":"80","author":"Azad","year":"2012","journal-title":"Infect. Immun."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"eaau8714","DOI":"10.1126\/sciimmunol.aau8714","article-title":"Tuberculosis and impaired IL-23\u2013dependent IFN-\u03b3 immunity in humans homozygous for a common TYK2 missense variant","volume":"3","author":"Li","year":"2018","journal-title":"Sci. Immunol."},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Koo, H.-K., Min, J., Kim, H.W., Ko, Y., Oh, J.Y., Jeong, Y.-J., Kang, H.H., Kang, J.Y., Lee, S.-S., and Seo, M. (2022). Cluster analysis categorizes five phenotypes of pulmonary tuberculosis. Sci. Rep., 12.","DOI":"10.1038\/s41598-022-13526-1"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s00335-010-9301-7","article-title":"Tuberculosis as a complex trait: Impact of genetic epidemiological study design","volume":"22","author":"Stein","year":"2010","journal-title":"Mamm. Genome"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s00251-020-01167-5","article-title":"A regulatory variant in the C1Q gene cluster is associated with tuberculosis susceptibility and C1qA plasma levels in a South African population","volume":"72","author":"Bruiners","year":"2020","journal-title":"Immunogenetics"},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Areeshi, M.Y., Mandal, R.K., Dar, S.A., Jawed, A., Wahid, M., Lohani, M., Panda, A.K., Mishra, B.N., Akhter, N., and Haque, S. (2017). IL-10-1082 A > G (rs1800896) polymorphism confers susceptibility to pulmonary tuberculosis in Caucasians but not in Asians and Africans: A meta-analysis. Biosci. Rep., 37.","DOI":"10.1042\/BSR20170240"},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Lyadova, I.V., Tsiganov, E.N., Kapina, M.A., Shepelkova, G.S., Sosunov, V.V., Radaeva, T.V., Majorov, K.B., Shmitova, N.S., Ham, H.-J.V.D., and Ganusov, V.V. (2010). In mice, tuberculosis progression is associated with intensive inflammatory response and the accumulation of Gr-1dim cells in the lungs. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0010469"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"S63","DOI":"10.1016\/j.amepre.2016.09.026","article-title":"Systemic Inflammation in Midlife: Race, Socioeconomic Status, and Perceived Discrimination","volume":"52","author":"Stepanikova","year":"2017","journal-title":"Am. J. Prev. Med."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1111\/1471-0528.14408","article-title":"Maternal and perinatal mortality and morbidity associated with tuberculosis during pregnancy and the postpartum period: A systematic review and meta-analysis","volume":"124","author":"Sobhy","year":"2016","journal-title":"BJOG Int. J. Obstet. Gynaecol."},{"key":"ref_63","first-page":"28","article-title":"Metabolic polymorphisms and the role of infectious diseases in human evolution","volume":"32","author":"Motulsky","year":"1960","journal-title":"Human Biol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.ajhg.2021.02.009","article-title":"Human ancient DNA analyses reveal the high burden of tuberculosis in Europeans over the last 2000 years","volume":"108","author":"Kerner","year":"2021","journal-title":"Am. J. Human Genet."},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Gorman, J.A., Hundhausen, C., Kinsman, M., Arkatkar, T., Allenspach, E.J., Clough, C., West, S.E., Thomas, K., Eken, A., and Khim, S. (2019). The Tyk2-p1104A autoimmune protective variant limits coordinate signals required to generate specialized t cell subsets. Front. Immunol., 10.","DOI":"10.3389\/fimmu.2019.00044"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.coi.2021.07.001","article-title":"Mycobacterial diseases in patients with inborn errors of immunity","volume":"72","author":"Bustamante","year":"2021","journal-title":"Curr. Opin. Immunol."},{"key":"ref_67","first-page":"123","article-title":"Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico","volume":"43","author":"Nieto","year":"2022","journal-title":"J. Clin. Immunol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1007\/s00439-020-02120-y","article-title":"Mendelian susceptibility to mycobacterial disease: Recent discoveries","volume":"139","author":"Bustamante","year":"2020","journal-title":"Human Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1038\/s41596-020-0353-1","article-title":"Tutorial: A guide to performing polygenic risk score analyses","volume":"15","author":"Choi","year":"2020","journal-title":"Nat. Protoc."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/s41576-023-00637-2","article-title":"Principles and methods for transferring polygenic risk scores across global populations","volume":"25","author":"Kachuri","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1038\/s41588-018-0183-z","article-title":"Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations","volume":"50","author":"Khera","year":"2018","journal-title":"Nat. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1038\/s41591-024-02796-z","article-title":"Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations","volume":"30","author":"Lennon","year":"2024","journal-title":"Nat. Med."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1848","DOI":"10.2337\/dc23-0675","article-title":"Teplizumab: A Disease-Modifying Therapy for Type 1 Diabetes That Preserves \u03b2-Cell Function","volume":"46","author":"Herold","year":"2023","journal-title":"Diabetes Care"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1186\/s12967-021-02778-6","article-title":"Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era","volume":"19","author":"Akil","year":"2021","journal-title":"J. Transl. Med."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"200","DOI":"10.2337\/dc18-1785","article-title":"Development and standardization of an improved type 1 diabetes genetic risk score for use in newborn screening and incident diagnosis","volume":"42","author":"Sharp","year":"2019","journal-title":"Diabetes Care"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.ijid.2022.10.020","article-title":"Toll-like receptor and matrix metalloproteinase single-nucleotide polymorphisms, haplotypes, and polygenic risk score differentiated between tuberculosis disease and infection","volume":"125","author":"Lee","year":"2022","journal-title":"Int. J. Infect. Dis."},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Bodro, M., Cervera, C., Linares, L., Su\u00e1rez, B., Llopis, J., Sanclemente, G., Casad\u00f3-Llombart, S., Fern\u00e1ndez-Ruiz, M., Fari\u00f1as, M.C., and Cantisan, S. (2022). Polygenic Innate Immunity Score to Predict the Risk of Cytomegalovirus Infection in CMV D+\/R- Transplant Recipients. A Prospective Multicenter Cohort Study. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.897912"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1038\/s41431-023-01521-7","article-title":"Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections","volume":"32","author":"Adebamowo","year":"2024","journal-title":"Eur. J. Human Genet."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Pare, G., Neupane, B., Eskandarian, S., Harris, E., Halstead, S., Gresh, L., Kuan, G., Balmaseda, A., Villar, L., and Rojas, E. (2020). Genetic risk for dengue hemorrhagic fever and dengue fever in multiple ancestries. EBioMedicine, 51.","DOI":"10.1016\/j.ebiom.2019.11.045"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"2276","DOI":"10.1080\/15548627.2020.1844433","article-title":"A multifactorial score including autophagy for prognosis and care of COVID-19 patients","volume":"16","author":"Domdom","year":"2020","journal-title":"Autophagy"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"3266","DOI":"10.1038\/s41467-019-11257-y","article-title":"Predicting bacterial infection outcomes using single cell RNA-sequencing analysis of human immune cells","volume":"10","author":"Levitin","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1016\/j.ajhg.2015.09.001","article-title":"Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores","volume":"97","author":"Yang","year":"2015","journal-title":"Am. J. Human Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1002\/gepi.22050","article-title":"Polygenic scores via penalized regression on summary statistics","volume":"41","author":"Mak","year":"2017","journal-title":"Genet. Epidemiol."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/19\/9544\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T15:54:00Z","timestamp":1759247640000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/19\/9544"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,30]]},"references-count":83,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2025,10]]}},"alternative-id":["ijms26199544"],"URL":"https:\/\/doi.org\/10.3390\/ijms26199544","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,30]]}}}