{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T21:53:29Z","timestamp":1770501209065,"version":"3.49.0"},"reference-count":56,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T00:00:00Z","timestamp":1516665600000},"content-version":"unspecified","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Glob. Health Epidemiol."],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:sec id=\"S2054420017000173_sec_a1\"><jats:title>Background<\/jats:title><jats:p>Infection by <jats:italic>Mycobacterium tuberculosis<\/jats:italic> (<jats:italic>Mtb<\/jats:italic>) is a necessary but not sufficient cause for tuberculosis (TB). Although numerous studies suggest human genetic variation may influence TB pathogenesis, there is a conspicuous lack of replication, likely due to imprecise phenotype definition. We aimed to replicate novel findings from a Ugandan cohort in Ethiopian populations.<\/jats:p><\/jats:sec><jats:sec id=\"S2054420017000173_sec_a2\" sec-type=\"methods\"><jats:title>Method<\/jats:title><jats:p>We ascertained TB cases and household controls (<jats:italic>n<\/jats:italic> = 292) from three different ethnic groups. Latent <jats:italic>Mtb<\/jats:italic> infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of <jats:italic>TICAM2<\/jats:italic> and <jats:italic>NOD1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec id=\"S2054420017000173_sec_a3\" sec-type=\"results\"><jats:title>Result<\/jats:title><jats:p>Significant novel associations were observed between two variants in <jats:italic>NOD1<\/jats:italic> and TB: rs751770147 [unadjusted <jats:italic>p<\/jats:italic> = 7.28 \u00d7 10<jats:sup>\u22125<\/jats:sup>] and chr7:30477156(T), a novel variant, [unadjusted <jats:italic>p<\/jats:italic> = 1.04 \u00d7 10<jats:sup>\u22124<\/jats:sup>]. Two SNPs in <jats:italic>TICAM2<\/jats:italic> were nominally associated with TB, including rs2288384 [unadjusted <jats:italic>p<\/jats:italic> = 0.003]. Haplotype-based association tests supported the SNP-based results.<\/jats:p><\/jats:sec><jats:sec id=\"S2054420017000173_sec_a4\" sec-type=\"conclusion\"><jats:title>Conclusion<\/jats:title><jats:p>We replicated the association of <jats:italic>TICAM2<\/jats:italic> and <jats:italic>NOD1<\/jats:italic> with TB and identified novel genetic associations with TB in Ethiopian populations.<\/jats:p><\/jats:sec>","DOI":"10.1017\/gheg.2017.17","type":"journal-article","created":{"date-parts":[[2018,1,23]],"date-time":"2018-01-23T07:41:10Z","timestamp":1516693270000},"source":"Crossref","is-referenced-by-count":35,"title":["Novel polymorphisms in <i>TICAM2<\/i> and <i>NOD1<\/i> associated with tuberculosis progression phenotypes in Ethiopian populations"],"prefix":"10.1155","volume":"3","author":[{"given":"E.","family":"Mekonnen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Bekele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. 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