Table 3.
SNP which have been found to be associated with schistosomiasis infection phenotypes in candidate gene studies.
| SNP | Gene | Phenotype | Parasite | Neg refs | Pos refs |
|---|---|---|---|---|---|
| rs2430561 | IFNG | T2R | Sm | none | (72) |
| rs3024495 | IL10 | FEC | Sm | None | (38)* |
| rs1800896 | IL10 | IgE | Sm | None | (38) |
| rs1800871 | IL10 | IgE | Sm | None | (38)* |
| rs1800872 | IL10 | IgE | Sm | None | (38)* |
| IL10(-1082/-819/-592) | IL10 | UEC | Sh | (73) | (74)* |
| rs20541 | IL13 | FEC | Sm | (75, 76) | (77) |
| rs2066960 | IL13 | FEC | Sm | (78) | (77) |
| rs7719175 | IL13 | UEC | Sh | (73) | (79)* |
| rs2069743 | IL13 | UEC | Sh | (78) | (80) |
| rs1800925 | IL13 | UEC, FEC, T2R | Sh, Sm | None | (72, 77–79)* |
| rs2243250 | IL4 | UEC, T2R | Sh | (80) | (73), (72)* |
| rs2079103 | IL5 | IF | Sj | None | (75)* |
| rs2706399 | IL5 | IF | Sj | None | (75)* |
| rs3024974 | STAT6 | UEC | Sh | None | (73)* |
| rs324013 | STAT6 | UEC | Sh | None | (78)* |
| rs733618 | CTLA4 | UEC | Sh | None | (81) |
| rs11571316 | CTLA4 | UEC | Sh | None | (81) |
| rs231775 | CTLA4 | UEC | Sh | None | (81) |
| rs3124952 | FCN2 | UEC | Sh | None | (82) |
| rs17514136 | FCN2 | UEC | Sh | None | (82) |
| rs7567833 | COLECC11 | UEC | Sh | None | (83) |
| COLEC11*TCCA | COLECC11 | UEC | Sh | None | (83) |
| Blood group O | ABO | FEC,UEC | Sh,Sm | None | (84) |
| rs746822072 | RNASE3 | FEC | Sm | None | (85) |
Loci that have been found associated with schistosomiasis in more than one study are shown in bold. * Loci that are not significant after Bonferroni correction. IL10 (−1082/−819/−592) = a haplotype of rs1800870, rs1800871 and rs1800872. COLEC11*TCCA is a haplotype of rs1864480 (−676T/C), rs4849953 (−472T/C), rs6714770 (−469C>G), and (−276C>T). Blood Group O is most commonly defined by genotypes at three SNP rs8176719, rs8176746(CC), rs8176747(GG). IF, Infection Frequency; T2R Time to Reinfection; UEC, Urine Egg Count; FEC, Fecal Egg Count: Sh, S. haematobium; Sm, S. mansoni; Sj, S. japonicum. “Pos refs” column contains citations for the studies that showed a significant association with phenotype and “Neg refs” column contains citations of studies that failed to show a significant association at that locus.