Table 4.
SNP which have been found to be associated with schistosomiasis pathology related phenotypes in candidate gene studies.
| SNP | Gene | Phenotype | Species | Not associated | Associated | References |
|---|---|---|---|---|---|---|
| rs1327475 | IFNGR1 | HF | Sm | NA | Egypt | (54) |
| rs2243250§ | IL4 | HF | Sm | NA | Egypt | (54) |
| rs1056854 | TGFB1 | HF | Sm | NA | Egypt* | (54) |
| rs373880612 | IFNG | PPF, HF, PH | Sm | NA | Sudan* | (55) |
| rs1861494 | IFNG | PPF, HF, PH | Sm | NA | Sudan* | (55) |
| IFN-gR1 6q22-q23 | IFNGR1 | HF, PH | Sm | NA | Sudan | (71) |
| rs3037970 | CCN2(CTGF) | HF, PH | Sj Sm |
China Sudan Brazil |
China | (71) |
| rs1257705 | CCN2(CTGF) | HF, PH | Sj Sm |
Sudan Brazil China |
China* | (86) |
| rs2151532 | CCN2(CTGF) | HF, PH | Sj Sm |
China Egypt |
China* | (54, 86) |
| rs9402373 | CCN2(CTGF) | HF, PH | Sj Sm |
NA | 2 China* Sudan Brazil* |
(86) |
| rs9399005 | CCN2(CTGF) | HF, PH | Sj | China | China* | (86) |
| rs6918698 | CCN2(CTGF) | HF, PH | Sj Sm |
China Sudan |
China* Brazil* |
(86) |
| rs1931002 | CCN2(CTGF) | HF, PH | Sj | China | China | (86) |
| rs12526196 | CCN2(CTGF) | HF, PH | Sj Sm |
Sudan Brazil |
2 China* | (86) |
| rs1800925C-rs20541A§ | IL13 | HF, PH | Sj | NA | China | (87) |
| rs1800925§ | IL13 | HF PH | Sj | NA | China* | (87) |
| rs12712135 | ST2 (IL1RL1) | IL1RL1 | Sj Sm |
NA | China Brazil |
(88) |
| rs1420101 | ST2 (IL1RL1) | IL1RL1 | Sj Sm |
NA | China Brazil |
(88) |
| rs6543119 | ST2 (IL1RL1) | IL1RL1 | Sj Sm |
NA | China Brazil |
(88) |
| rs7412, rs429358 APOE3 | APOE | TC, LDL | Sm | Brazil | NA | (89) |
| rs6570136 | IL22RA2 | HF, PH | Sj Sm |
NA | China Brazil* Sudan* |
(90) |
| rs7774663 | IL22RA2 | HF, PH | Sj Sm |
China | Sudan Brazil* |
(90) |
| rs2064501 | IL22RA2 | HF, PH, IL22 | Sj Sm |
NA | China* Brazil* Sudan* |
(90) |
| rs11154915 | IL22RA2 | HF, PH, IL22 | Sj Sm |
China Brazil |
Sudan* | (90) |
| rs7749054 | IL22RA2 | HF, PH, IL22 level | Sj Sm |
China Sudan |
Brazil* | (90) |
| rs1800870 | IL10 | PPF | Sm | NA | Brazil | (91) |
| IL10 (-1082/-819/-592)§ | IL10 | PPF | Sm | NA | Brazil | (91) |
| rs1800629 | TNFA | PPF, TNFA | Sm | NA | Brazil | (92) |
| rs10118570 | MAPKAP1 | HF, infection | Sj | NA | 2 China | (93) |
| rs391957 | HSPA5 | HF, infection | Sj | NA | China | (93) |
| rs17025963 rs185882198 rs71093915 |
TGFBR2 | HF | Sm | NA | Brazil | (5) |
| rs1690215 rs56368010 |
ACVRL1(ALK1) | HF | Sm | NA | Brazil | (5) |
| rs114046193 rs12345675 |
TGFbR1 (ALK5) | HF | Sm | NA | Brazil | (5) |
| rs138079455 rs10555873 rs77414361 |
SMAD9 | HF | Sm | NA | Brazil | (5) |
| rs12913547 rs12914140 rs12439500 |
SMAD3 | HF | Sm | NA | Brazil | (5) |
| rs746822072 | RNASE3 (ECP) | HF | Sm | NA | Uganda | (85) |
| rs1800629 | TNFA | PPF regression after treatment | Sm | NA | Brazil | (94) |
| rs2295080 | mTOR | HF, infection | Sj | NA | China | (95) |
| rs7254617 | AKT2 | HF, infection | Sj | NA | China* | (95) |
Loci that have been found associated with schistosomiasis in more than one population are shown in bold. *Loci that are not significant after Bonferroni correction. §SNP which are also associated with infection (Table 3). Studies of classical HLA loci have been excluded since they have been fully reviewed elsewhere (7, 8). Sh, S. haematobium; Sm, S. mansoni; Sj, S. japonicum. The “Associated” column shows the locations of studies where a significant association has been found and the “Not Associated” column shows the location of studies that failed to show a significant association. PPF Periportal Fibrosis; PH Portal Hypertension; PT Portal thickness, including portal vein diameter and portal vein branch point thickness, HF Hepatic Fibrosis; AHSD Advanced HepatoSplenic Disease, TC Total Cholesterol, HDL High Density Lipoprotein, TNFA Median levels TNFA higher in patients with PPF, IL22 level of IL22 in plasma, IL1RL1 level of soluble IL1RL1 in plasma. IL-10 (−1082/−819/−592) represents a haplotype of rs1800870, rs1800871, and rs1800872. NA, Not applicable.