Table 2 Major histocompatibility complex (MHC) associations and risks for infectious diseases identified by genome-wide association studies (GWAS)

HIV-1 viral set point

Euro-CHAVI, 486 seroconverters

140 Caucasian patients

HCP5/B*5701

rs2395029

9.36 × 10⁻¹²

NA

[69]

HLA-C

rs9264942

3.77 × 10⁻⁹

NA

HIV-1 control

2362 European ancestry cases

NA

HSPA1B-C6orf48

LOC105375015

LOC105375015

HCP5

HCP5

PSORS1C1

rs9368699

rs9264942

rs9264942

rs2395029

rs2395029

rs3815087

5.00 × 10^–08

6.00 × 10^–32

6.00 × 10^–12

5.00 × 10^–35

1.00 × 10^–11

8.00 × 10^–08

NA

NA

NA

NA

NA

NA

[70]

AIDS progression

275 seropositive non-progressors, 86 seropositive rapid progressors, 1352 seronegative controls, All Europeans

See [69]

HCP5

rs2395029

3.00 × 10^–19

[73]

LOC105375015

rs10484554

6.00 × 10^–08

NA

HIV-1 control

974 controllers (cases) and 2648 progressors (controls) multi ethnic (Europeans, African-Americans, and Hispanics)

Untreated HIV-infected persons from Switzerland

HLA-C

rs9264942

2.8 × 10⁻³⁵

2.9

[62]

HLA-B*57:01

rs2395029

9.7 × 10⁻²⁶

5.3

MICA

rs4418214

1.4 × 10⁻³⁴

4.4

PSORS1C3

rs3131018

4.2 × 10⁻¹⁶

2.1

HLA-B

rs2523608

8.9 × 10^–20

2.6

Intergenic

rs2255221

3.5 × 10^–14

2.7

HLA-B

rs2523590

1.7 × 10^–13

2.4

HIV-1 susceptibility

6334 cases, 7247 controls (Europeans)

NA

MICA - LOC105375017

rs4418214

4.00 × 10^–11

1.52

[72]

Chronic hepatitis B infection

786 Japanese cases, 2201 Japanese controls

Japanese and Thai cohorts of 1300 cases and 2100 controls

HLA-DPA1

rs3077

2.31 × 10^–38

0.56

[80]

HLA-DPB1

rs9277535

6.34 × 10^–39

0.57

Chronic hepatitis B infection

458 Japanese cases, 2056 Japanese controls

Three independent Japanese cohorts (2209 cases and 4440 controls)

HLA-DPA1

rs3077

1.28 × 10⁻⁶¹

1.98

[83]

HLA-DPB1

rs9277535

3.72 × 10⁻¹⁷

1.95

HLA-DQB1

rs2856718

4.41 × 10⁻¹⁰

1.59

HLA-DQB2

rs7453920

1.27 × 10⁻¹⁰

2.2

Chronic hepatitis B infection

400 cases, 1000 controls, Koreans

971 cases, 1938 controls Korean

TCF19

rs1419881

1.00 × 10^–18

1.37

[77]

EHMT2

rs652888

7.00 × 10^–13

1.38

HLA-DQB1 - LOC102725019

rs2856718

2.00 × 10^–24

1.6

HLA-DQB2

rs7453920

7.00 × 10^–26

2

HLA-DPA1

rs3077

5.00 × 10^–39

1.89

HLA-DPB1

rs9277535

4.00 × 10^–40

1.89

Hepatitis B

951 carrier cases, 937 cleared controls, Han Chinese

4230 carrier cases, 3051 cleared controls, 2622 controls, Han Chinese

HCG27 - HLA-C

rs3130542

9.00 × 10^–14

1.33

[76]

HLA-DQB2

rs7453920

5.00 × 10^–37

1.8868

Chronic hepatitis B infection

321 cases, 304 controls, TaiwaneseHan Chinese

1302 cases, 761 controls, Taiwanese Han Chinese

LOC102725019 - HLA-DQA2

rs9276370

2.00 × 10^–12

1.95

HLA-DQB2

rs7453920

7.00 × 10^–15

2.31

[79]

HLA-DPB1

rs9277535

5.00 × 10^–14

1.59

LOC105375021

rs9366816

3.00 × 10^–10

1.43

HLA-DQB1 - HLA-DQA2; LOC102725019 - HLA-DQA2; LOC102725019 - HLA-DQA2; LOC102725019 - HLA-DQA2; HLA-DQB1 - HLA-DQA2; LOC102725019 - HLA-DQA2; LOC102725019 - HLA-DQA2; LOC102725019 - HLA-DQA2, HLA-DQB2; HLA-DQB2; HLA-DQB2; HLA-DQB2; HLA-DQB2; HLA-DQB2; HLA-DQB2; HLA-DQB2, HLA-DPB1; HLA-DPB1; HLA-DPB1; HLA-DPB1; HLA-DPB1; HLA-DPB1; HLA-DPB1; HLA-DPB1, LOC105375021; LOC105375021

rs9276370, rs7756516, rs7453920, rs9277535, rs9366816

1.00 × 10^–12

1.49

Chronic hepatitis B infection

2514 cases, 1130 controls, Chinese

6600 cases, 8127 controls, Chinese

HCG27 - HLA-C

rs2853953

5.00 × 10^–20

1.47

[78]

CFB

rs12614

1.00 × 10^–34

1.89

NOTCH4

rs422951

5.00 × 10^–16

1.27

HLA-DQB1 - LOC102725019

rs2856718

7.00 × 10^–28

1.28

HLA-DQB2

rs7453920

1.00 × 10^–60

2

HLA-DOA

rs378352

1.00 × 10^–23

1.26

HLA-DPA1

rs3077

1.00 × 10^–53

1.45

HLA-DPB1

rs9277535

1.00 × 10^–70

1.52

Chronic hepatitis B infection/progression

181 Japanese carriers, 184 Japanese healthy controls

256 carriers, 236 healthy controls (Japanese) and 344 carriers, 151 healthy controls (Korean)

3' UTR of HLA-DPB1

rs9277542

8.36 × 10^–8

0.42

[81]

Chronic hepatitis C infection

1482 chronic cases, 919 spontaneously cleared cases, European, African, and mixed/other ancestry

461 chronic cases, 284 spontaneously cleared cases

HLA-DQB1 - LOC102725019

rs4273729

5.00 × 10^–17

1.59

[65]

Chronic hepatitis C infection

481 cases, 2963 controls, Japanese

5737 cases, 26,931 controls Japanese

HLA-DQB1 - LOC102725019

rs9275572

4.00 × 10^–16

1.27

[84]

HPV seropositivity

1286 lung cancer cases, 679 head and neck cancer cases, 811 kidney cancer cases, 2035 controls, European ancestry

1307 head and neck cancer cases, 1037 controls, Hispanic

HLA-DQB1 - LOC102725019

rs9357152

1.00 × 10^–14

2.02

[85]

Dengue shock syndrome

2008 child cases, 2018 child controls, Vietnamese

1737 child cases, 2,934 child controls, Vietnamese

MICB

rs3132468

4.00 × 10^–11

1.34

[74]

Leprosy

706 cases, 1225 controls Han Chinese

3254 cases, 5955 controls, Chinese

HLA-DRB1 - HLA-DQA1

rs602875

5.00 × 10^–27

1.61

[88]

Leprosy

1548 cases, 2150 controls, 4362 controls with immune-related diseases,

Chinese ancestry

6765 cases, 9505 controls, Chinese ancestry

HLA-DRB1 - HLA-DQA1

rs9271100

8.00 × 10^–95

1.68

[87]

M. Tuberculosis infection

8162 cases, 277,643 controls, Icelanders

5530 Russian cases, 5607 Russian controls and 438 cases from Croatia, 1009 controls from Croatia

HLA-DQA1, HLA-DRB1

rs557011

3.1 × 10⁻¹³

1.14

[67]

Pulmonary tuberculosis

HLA-DQA1, HLA-DRB1

rs557011

5.8 × 10⁻¹²

1.25

Pulmonary tuberculosis

HLA-DQA1, HLA-DRB1

rs9271378

2.5 × 10⁻¹²

0.78

M. Tuberculosis infection

HLA-DQA1

rs9272785

9.3 × 10⁻⁹

1.14

Leishmaniasis (visceral)

989 cases, 1089 controls (Indians), 357 cases,

1613 unaffected relatives

(Brazilians)

951 cases, 990 controls, Indians

HLA-DRB1 - HLA-DQA1

rs9271858

3.00E^–17

1.41

[92]