Table 2.
Characteristics of genetic susceptibility studies for ESCC in African populations.
| Study (PMID) |
Location | Year | Population | Age, y (SD) | Sample size | Sex, cases n (%) | Sex, ctrl n (%) | Clinical assessment | Analysis method | Smoking n (%) | Alcohol n (%) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cases | Ctrl | Cases | Ctrl | Male | Female | Male | Female | Cases | Ctrl | Cases | Ctrl | Cases | Ctrl | |||||
|
Bye et al., 2011
(21926110) |
South Africa | 2011 | Black | 59.8 (11.3) | – | 358 | 477 | 182 (50.8) | 176 (49.2) | – | – | Histology | – | TaqMan Assay | 228 (63.7) | – | 228 (63.7) | – |
| Mixed ancestry | 60.5 (10.6) | – | 201 | 427 | 131 (65.2) | 70 (34.8) | – | – | Histology | – | TaqMan Assay | 189 (94.1) | – | 163 (81.1) | – | |||
| Bye et al., 2012 (22865593) | South Africa | 2012 | Black | 59.8 (11.3) | 48.8 (16.7) | 407 | 849 | 199 (48.9) | 208 (51.1) | 335 (39.5) | 511 (60.2) | Histology | – | TaqMan Assay and KASP | 242 (59.5) | 333 (39.2) | 253 (62.2) | 452 (53.2) |
| Mixed ancestry | 60.6 (10.6) | 46.7 (16.8) | 257 | 860 | 165 (64.2) | 91 (35.4) | 309 (35.9) | 551 (64.1) | Histology | – | TaqMan Assay and KASP | 240 (93.4) | 597 (69.4) | 212 (82.5) | 419 (48.7) | |||
| Chelule et al., 2006 (17264406) | South Africa | 2006 | Black | 18–741 | 18–74 | 70 | 261 | – | – | – | – | Histology | – | PCR-RFLP | – | – | – | – |
| Chen et al., 2019 (30753320) | South Africa | 2019 | Black7 | 60.2 (11.3) | 48.9 (16.8) | 591 | 852 | 284 (48.1) | 307 (51.9) | 342 (40.1) | 507 (59.5) | Histology | – | TaqMan Assay | 364 (61.6) | 338 (39.7) | 370 (62.6) | 458 (53.7) |
| Black8 | 58.2 (10.2) | 50.0 (15.5) | 880 | 939 | 545 (61.9) | 332 (37.7) | 240 (25.6) | 698 (74.3) | Histology | iPLEX and TaqMan Assays | 598 (68.0) | 333 (35.5) | 473 (53.8) | 633 (67.4) | ||||
| Dandara et al., 2005 (15978331) | South Africa | 2005 | Black | – | – | 142 | 178 | – | – | – | – | Histology | – | PCR-RFLP | 179 | 162 | 171 | 160 |
| Mixed ancestry | – | – | 99 | 94 | Histology | PCR-RFLP | ||||||||||||
| Dandara et al., 2006 (16272171) | South Africa | 2006 | Black | 61.23 | 61.85 | 145 | 194 | 85 (59) | 60 (41) | 111 (57) | 83 (43) | Histology | – | PCR-RFLP | 95 (65) | 123 (63) | 98 (68) | 127 (65) |
| Mixed ancestry | 61.49 | 69.53 | 100 | 94 | 78 (78) | 22 (22) | 45 (48) | 49 (52) | Histology | – | PCR-RFLP | 93 (93) | 74 (79) | 73 (73) | 45 (48) | |||
| Dietzsch et al., 2003 (12925954) | South Africa | 2003 | Black and mixed ancestry | 59.6 | 58.7 | 582 | 226 | 44 | 14 | 167 | 59 | – | – | PCR and PAGE |
||||
| Eltahir et al., 2012 (23053979) | Sudan | 2012 | 18 | 235 | Histology | PCR-RFLP | ||||||||||||
| Li et al., 2005 (15899651) | South Africa | 2005 | Black and mixed ancestry | 61.1 (10.5) | 65.7 (10.2) | 189 | 198 | – | – | – | – | Histology | – | PCR-SSCP and DNA sequencing | 144 (76) | 122 (62) | 133 (70) | 114 (58) |
| Li et al., 2008 (18254707) | South Africa | 2008 | Black3 | – | – | 142 | 178 | – | – | – | – | Histology | – | PCR- RLFP | 179 | 162 | 71 | 160 |
| Mixed3 ancestry | 101 | 100 | Histology | PCR-RFLP | ||||||||||||||
| Li et al., 2010 (20540773) | South Africa | 2010 | Black3 | 61.23 | 61.85 | 145 | 194 | 85 (59) | 60 (41) | 111 (57) | 83 (43) | Histology | – | PCR-RFLP | 95 (65) | 123 (63) | 98 (68) | 127 (65) |
| Mixed3 ancestry | 61.49 | 69.53 | 100 | 94 | 78 (78) | 22 (22) | 45 (48) | 49 (52) | Histology | – | PCR- RFLP | 93 (93) | 74 (79) | 73 (73) | 45 (48) | |||
| Matejcic et al., 2011 (22216261) | South Africa | 2011 | Black | – | – | 330 | 479 | – | – | – | – | Histology | – | TaqMan assay and gel electrophoresis | 210 | – | 204 | – |
| Mixed ancestry | – | – | 232 | 428 | – | – | – | – | Histology | – | TaqMan assay and gel electrophoresis | 216 | – | 189 | – | |||
| Matejcic et al., 2015 (26447020) | South Africa | 2015 | Black | 59.6 (10.7) |
56.7 (15.0) |
463 | 480 | 229 (49) | 234 (51) | 235 (49) | 245 (51) | Histology | – | TaqMan assay | 280 (60) | 222 (46) | 286 (62) | 278 (58) |
| Mixed ancestry | 60.7 (10.3) | 57.7 (14.3) | 269 | 288 | 177 (66) | 92 (34) | 178 (62) | 110 (38) | Histology | – | TaqMan Assay | 250 (93) | 226 (78) | 215 (80) | 172 (60) | |||
| Strickland et al., 2012 (21901748) | South Africa | 2012 | Black | 59/664 | – | 96 | 88 | 48 | 48 | – | – | Histology | Brush biopsy |
HEX SSCP and DNA sequencing | 58 | – | 58 | – |
| Vogelsang et al., 2012 (22623965) | South Africa | 2012 | Black | 59.8 (11.3) | 56.1 (16.2) | 3455 | 344 | 166 (48.1) | 179 (51.9) | 120 (34.9) | 224 (65.1) | Histology | – | Allele-specific quantitative PCR | 209 (60.6) | 117 (34.0) | 160 (46.4) | 92 (26.7) |
| Mixed ancestry | 60.7 (10.2) | 56.8 (16.5) | 2056 | 266 | 136 (66.3) | 69 (33.7) | 82 (30.8) | 184 (69.2) | Histology | – | Allele-specific quantitative PCR | 189 (92.2) | 162 (60.9) | 118 (57.6) | 38 (14.3) | |||
| Vos et al., 2003 (12550754) | South Africa | 2003 | Black | 57 (11) | 57 (11) | 74 | 118 | – | – | – | – | Histology | – | SSCP and DNA sequencing | – | – | – | – |
| Zaahl et al., 2005 (15860357) | South Africa | 2005 | Mixed ancestry | – | – | 105 | 110 | 82 | 23 | 43 | 67 | Histology | – | SSCP and DNA sequencing | – | – | – | – |
1Only range of age was reported for the combined group of cases and controls.
257 had ESCC.
3Same population as in Dandara et al. (2005) study.
459+/–13 for male (n = 48) and 66+/– (n = 48) for female patients.
5326 had ESCC.
6182 had ESCC.
7Western and Eastern Cape Province Black Population.
8Gauteng Province Black Population.
Ctrl, controls; ESCC, esophageal squamous cell carcinoma; HEX, heteroduplex; KASP, competitive allele specific PCR; PAGE, polyacrylamide gel electrophoresis; PCR, polymerase chain reaction; RFLP, restriction fragment length polymorphism; SD, Standard deviation; SSCP, single-strand conformation polymorphism.