Table 1.
Autophagy-Related Genetic Variants Associated with Tuberculosis
| Gene | Variant | TB-association | Reference* |
|---|---|---|---|
| VDR | Combination of TT or Tt genotype (Taq1) with 25-hydroxycholecalciferol deficiency; ff (Fok1) genotype | The combination of genotype TT/Tt and 25-hydroxycholecalciferol deficiency, and the genotype ff are positively associated with TB (individuals of Hindu and Gujarati origins). | Wilkinson et al. (2000) |
| TLR2 | Arg753Gln (AA genotype) | Carriers of this polymorphism present higher risk of developing TB (Turkish individuals). | Ogus et al. (2004) |
| TLR2 | Arg677Trp (C2029T) | This polymorphism is associated with increased susceptibility to TB (Tunisian individuals). | Ben-Ali et al. (2004) |
| IL-1β | −31position genotypes | A significant difference of IL-1β −31 genotypes was found between 98 TB patients and healthy controls. | Sun et al. (2007) |
| IRGM | −261TT | It confers protection against TB (Ghanaian individuals). | Intemann et al. (2009) |
| TLR2 | P631H | It is significantly overrepresented in TB when TB patients were compared with controls, indicating a possible low-risk predisposition (Croatian individuals). | Etokebe et al. (2010) |
| IRGM | −1208AA genotype and −1208G/−1161T/−947T haplotype | The −1208AA genotype is associated with decreased susceptibility to TB, while the −1208G/−1161T/−947T haplotype is positively associated with TB (Chinese individuals). | Che et al. (2010) |
| IRGM | rs10065172C/T | The carriers of the Chron's disease-related rs10065172C/T SNP present increased susceptibility to TB (African American individuals). | King et al. (2011) |
| LAMP1 and MTOR | rs9577229 (LAMP1) rs6701524 (MTOR) |
Associations were observed between SNPs in LAMP1, MTOR, and infection with M. tuberculosis Beijing genotype, but statistical significance was lost after correction for multiple testing (Indonesian individuals). | Songane et al. (2012) |
| IRGM | −1161C/T and −947C/T | Both polymorphisms are associated with decreased susceptibility to TB (Iranian individuals). | Bahari et al. (2012) |
Note: Genes are listed according to the respective date of publication (from earliest to latest).
IL, interleukin; IRGM, immunity-related GTPase family M; LAMP1, lysosomal-associated membrane protein 1; TB, tuberculosis; TLR2, toll-like receptor 2; VDR, vitamin D receptor.