Table 1.
Cancer GWAS significant signals located in chromosome 6p21 MHC region.
| Disease | Year | No. of cases/No. of controls | HLA class I genes |
HLA class II genes |
Other MHC genes | Reference | |||
|---|---|---|---|---|---|---|---|---|---|
| HLA-A | HLA-B/C | HLA-DR | HLA-DQ | HLA-DP | |||||
| EBV-related tumorsa | |||||||||
| Nasopharyngeal carcinoma | 2009 | 111/260 | (19) | ||||||
| Nasopharyngeal carcinoma | 2009 | 277/285 | rs2517713 | GABBR1, HCG9, HLA-F | (10) | ||||
| rs2975042 | |||||||||
| Nasopharyngeal carcinoma | 2010 | 1,583/1,894 | rs2860580 | rs2894207 | rs28421666 | GABBR1, HCG9 | (11) | ||
| Nasopharyngeal carcinoma | 2012 | 1,405/1,650 | rs417162 | GABBR1, HCG9 | (12) | ||||
| Hodgkin’s lymphoma | 2011 | 589/5,199 | rs6903608 | (22) | |||||
| Hodgkin’s lymphoma | 2012 | 1,200/6,417 | rs2395185 | MICB | (21) | ||||
| EBV-positive Hodgkin’s lymphoma | rs2734986 | ||||||||
| EBV-negative Hodgkin’s lymphoma | rs6903608 | ||||||||
| Nodular sclerosis Hodgkin’s lymphoma | 2011 | 393/3,315 | rs204999 rs9268528 | (23) | |||||
| Other virus-related tumors | |||||||||
| Hepatocellular carcinoma | 2011 | 180/271 | C2 | (34) | |||||
| HCV-related hepatocellular carcinoma | 2011 | 721/2,890 | rs9275572 | MICA | (30) | ||||
| HBV-related hepatocellular carcinoma | 2012 | 1,538/1,465 | rs9272105 | (31) | |||||
| HBV-related hepatocellular carcinoma | 2013 | 1,161/1,353 | rs9275319 | (32) | |||||
| HBV-related hepatocellular carcinoma | 2013 | 971/1,938 | rs9269081 | rs2856718, rs7453920 | rs9277535, rs3077 | EHMT2, TCF19 | (33) | ||
| Cervical Cancer | 2013 | 1,034/3,948 | rs9272143e | rs9272143e | rs3117027 | MICA | (28) | ||
| Cervical Cancer | 2013 | 1,364/3,028 | rs4282438 | (29) | |||||
| Other hematopoetic tumorsb | |||||||||
| Follicular lymphoma | 2009 | 189/592 | rs6457327 | (44) | |||||
| Follicular lymphoma | 2010 | 681/750 | rs10484561 | C6orf15 | (45) | ||||
| Follicular lymphoma | 2011 | 379/791 | rs2647012 | (46) | |||||
| Chronic lymphocytic leukemia | 2010 | 407/296 | rs674313 | rs9272535 | (47) | ||||
| Chronic lymphocytic leukemia | 2012 | 1,121/3,745 | BAK1, IRF4 | (48) | |||||
| Chronic lymphocytic leukemia | 2013 | 3,100/7,667 | rs674313 | rs9273012, rs9273363 | IRF4 | (49) | |||
| Lymphomac | 2013 | 1,245/2596 | rs4530903e rs9268853 | rs4530903e rs2647045 rs2621416 | (50) | ||||
| Other solid tumorsd | |||||||||
| Lung cancer | 2008 | 1,952/1,438 | BAG6/APOM | (51) | |||||
| Lung cancer | 2013 | 5,510/4,544 | rs2395185 | (35) | |||||
| Lung adenocarcinoma | 2009 | 5,739/5,848 | BAG6/APOM | (52) | |||||
| Lung adenocarcinoma | 2012 | 1,695/5,333 | BTNL2 | (53) | |||||
| Testicular germ cell tumor | 2009 | 730/1,435 | BAK1 | (54) | |||||
| Prostate cancer | 2011 | 6,621/6,939 | CCHCR1 | (55) | |||||
| Prostate cancer | 2013 | 11,085/11,463 | NOTCH4 | (56) | |||||
| Multiple cancersf | 2012 | 5,368/4,006 | LRFN2 | (27) | |||||
a GWAS study in gastric cancer (25–27) and non-cardia gastric cancer (24) with no significant findings reported in the MHC region.
b GWAS studies in acute lymphoblastic leukemia (childhood) (36–39), chronic myeloid leukemia (40), and large B-cell lymphoma (41) with no significant findings reported in the MHC region.
c This study included multiple types of lymphoma: 275 follicular non-Hodgkin lymphoma cases, 269 diffuse large B-cell non-Hodgkin lymphoma cases, 198 other non-Hodgkin lymphoma cases, 202 Hodgkin lymphoma cases, and 4,044 controls.
d GWAS studies in basal cell carcinoma, bladder cancer, breast cancer, colorectal cancer, endometrial cancer, esophageal cancer, Ewing sarcoma, gallbladder cancer, glioblastoma, glioma, melanoma, multiple myeloma, neuroblastoma, ovarian cancer, ovarian reserve, pancreatic cancer, renal cell carcinoma, small-cell lung cancer, testicular cancer, thyroid cancer, urinary bladder cancer, and Wilms tumor with no significant findings reported in the MHC region (NHGRI GWAS catalog http://www.genome.gov/gwastudies).
e rs9272143 and rs4530903 located between HLA-DRB1 and HLA-DQA1.
f This study included 2,331 lung cancer cases, 1,006 non-cardia gastric cancer cases, 2,031 esophageal squamous-cell carcinoma cases, and 4,006 Han Chinese controls.