Article open access publication

Epiregulin (EREG) and human V-ATPase (TCIRG1): genetic variation, ethnicity and pulmonary tuberculosis susceptibility in Guinea-Bissau and The Gambia

Genes & Immunity, Springer Nature, ISSN 1466-4879

Volume 15, 6, 2014

DOI:10.1038/gene.2014.28, Dimensions: pub.1030386162, PMC: PMC5789787, PMID: 24898387,


White, M J (1) (2)
Chen, J S (1)
Wejse, C (4) (5) (6)
Hill, P C (7) (8)
Hu, T (1)
Novelli, G (3) (9)
Scott, W K (10)
Sirugo, G * (3)

* Corresponding author



  1. (1) Dartmouth College, grid.254880.3
  2. (2) Vanderbilt University, grid.152326.1
  3. (3) Ospedale San Pietro Fatebenefratelli, grid.416418.e
  4. (4) Aarhus University, grid.7048.b, AU
  5. (5) Bandim Health Project, grid.418811.5
  6. (6) Aarhus University Hospital, grid.154185.c, Central Denmark Region
  7. (7) Medical Research Council The Gambia Unit, grid.415063.5
  8. (8) University of Otago, grid.29980.3a
  9. (9) University of Rome Tor Vergata, grid.6530.0
  10. (10) University of Miami, grid.26790.3a


We analyzed two West African samples (Guinea-Bissau: n=289 cases and 322 controls; The Gambia: n=240 cases and 248 controls) to evaluate single-nucleotide polymorphisms (SNPs) in Epiregulin (EREG) and V-ATPase (T-cell immune regulator 1 (TCIRG1)) using single and multilocus analyses to determine whether previously described associations with pulmonary tuberculosis (PTB) in Vietnamese and Italians would replicate in African populations. We did not detect any significant single locus or haplotype associations in either sample. We also performed exploratory pairwise interaction analyses using Visualization of Statistical Epistasis Networks (ViSEN), a novel method to detect only interactions among multiple variables, to elucidate possible interaction effects between SNPs and demographic factors. Although we found no strong evidence of marginal effects, there were several significant pairwise interactions that were identified in either the Guinea-Bissau or the Gambian samples, two of which replicated across populations. Our results indicate that the effects of EREG and TCIRG1 variants on PTB susceptibility, to the extent that they exist, are dependent on gene-gene interactions in West African populations as detected with ViSEN. In addition, epistatic effects are likely to be influenced by inter- and intra-population differences in genetic or environmental context and/or the mycobacterial lineages causing disease.


Research Categories

Main Subject Area

Fields of Research

Links & Metrics

NORA University Profiles

Aarhus University

Danish Open Access Indicator

2014: Unused

Research area: Medicine

Danish Bibliometrics Indicator

2014: Level 1

Research area: Medicine

Dimensions Citation Indicators

Times Cited: 8

Field Citation Ratio (FCR): 1.23

Relative Citation ratio (RCR): 0.27

Open Access Info