{"title":"埃塞俄比亚人群中与结核病进展表型相关的TICAM2和NOD1新多态性","authors":"E Mekonnen, E Bekele, C M Stein","doi":"10.1017/gheg.2017.17","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Infection by <i>Mycobacterium tuberculosis</i> (<i>Mtb</i>) 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.</p><p><strong>Method: </strong>We ascertained TB cases and household controls (<i>n</i> = 292) from three different ethnic groups. Latent <i>Mtb</i> infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of <i>TICAM2</i> and <i>NOD1</i>.</p><p><strong>Result: </strong>Significant novel associations were observed between two variants in <i>NOD1</i> and TB: rs751770147 [unadjusted <i>p</i> = 7.28 × 10<sup>-5</sup>] and chr7:30477156(T), a novel variant, [unadjusted <i>p</i> = 1.04 × 10<sup>-4</sup>]. Two SNPs in <i>TICAM2</i> were nominally associated with TB, including rs2288384 [unadjusted <i>p</i> = 0.003]. Haplotype-based association tests supported the SNP-based results.</p><p><strong>Conclusion: </strong>We replicated the association of <i>TICAM2</i> and <i>NOD1</i> with TB and identified novel genetic associations with TB in Ethiopian populations.</p>","PeriodicalId":44052,"journal":{"name":"Global Health Epidemiology and Genomics","volume":"3 ","pages":"e1"},"PeriodicalIF":1.1000,"publicationDate":"2018-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870410/pdf/","citationCount":"0","resultStr":"{\"title\":\"Novel polymorphisms in <i>TICAM2</i> and <i>NOD1</i> associated with tuberculosis progression phenotypes in Ethiopian populations.\",\"authors\":\"E Mekonnen, E Bekele, C M Stein\",\"doi\":\"10.1017/gheg.2017.17\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Infection by <i>Mycobacterium tuberculosis</i> (<i>Mtb</i>) 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.</p><p><strong>Method: </strong>We ascertained TB cases and household controls (<i>n</i> = 292) from three different ethnic groups. Latent <i>Mtb</i> infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of <i>TICAM2</i> and <i>NOD1</i>.</p><p><strong>Result: </strong>Significant novel associations were observed between two variants in <i>NOD1</i> and TB: rs751770147 [unadjusted <i>p</i> = 7.28 × 10<sup>-5</sup>] and chr7:30477156(T), a novel variant, [unadjusted <i>p</i> = 1.04 × 10<sup>-4</sup>]. Two SNPs in <i>TICAM2</i> were nominally associated with TB, including rs2288384 [unadjusted <i>p</i> = 0.003]. Haplotype-based association tests supported the SNP-based results.</p><p><strong>Conclusion: </strong>We replicated the association of <i>TICAM2</i> and <i>NOD1</i> with TB and identified novel genetic associations with TB in Ethiopian populations.</p>\",\"PeriodicalId\":44052,\"journal\":{\"name\":\"Global Health Epidemiology and Genomics\",\"volume\":\"3 \",\"pages\":\"e1\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2018-01-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870410/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Global Health Epidemiology and Genomics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1017/gheg.2017.17\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2018/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Global Health Epidemiology and Genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1017/gheg.2017.17","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2018/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH","Score":null,"Total":0}
Novel polymorphisms in TICAM2 and NOD1 associated with tuberculosis progression phenotypes in Ethiopian populations.
Background: Infection by Mycobacterium tuberculosis (Mtb) 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.
Method: We ascertained TB cases and household controls (n = 292) from three different ethnic groups. Latent Mtb infection was determined using Quantiferon to develop reliable TB progression phenotypes. We sequenced exonic regions of TICAM2 and NOD1.
Result: Significant novel associations were observed between two variants in NOD1 and TB: rs751770147 [unadjusted p = 7.28 × 10-5] and chr7:30477156(T), a novel variant, [unadjusted p = 1.04 × 10-4]. Two SNPs in TICAM2 were nominally associated with TB, including rs2288384 [unadjusted p = 0.003]. Haplotype-based association tests supported the SNP-based results.
Conclusion: We replicated the association of TICAM2 and NOD1 with TB and identified novel genetic associations with TB in Ethiopian populations.
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