Table 1

Disease-associated polymorphisms

Protein affected

Disease

Non-coding/coding (N-C/C)

Functional phenotype

Human/animal (H/A)

IL-1/IL-1RA

Periodontal [17], osteoarthritis [18] and others

N-C 5'

Yes

H

IL-2

IDDM [19]

C

No

A (not H)

IL-4

Asthma [20]

N-C 5' and intron

No

H

IL-5Rα

Atopy [21]

N-C 5' and splice variant

Yes

A

IL-6

Juvenile idiopathic arthritis [22]

N-C 5'

Yes

H

IL-10

SLE [23]

N-C 5'

Yes

H

IL-13

Asthma [24]

C

No

H

IFNγ

Asthma and atopy [25]

Intron

No

H

TNFα

RA, SLE and others (Several groups)

N-C 5'

Yes

H

TGFβ

Transplant rejection[26]

C (signal sequence)

Yes

H

FcγRIIB1

SLE [27]

N-C 5'

Yes

A

Insulin

IDDM [28]

N-C 5'

Yes

H

RANTES

Atopic dermatitis [29]

N-C 5'

No

H

Nramp1

HIV, TB, JRA [30]

N-C 5'

Yes

H, A

Nramp2

Anemia [31]

C and intron

Yes

H, A

ACE1

Hypertension [32,33]

N-C 5' and intron (and C)

Yes

H, A

CCR5, CCR2

AIDS [34]

N-C 5'

Yes

H

AIDS [5]

C

No

MHC class II

Many diseases

C

Yes

H

Collagen-induced arthritis[4]

N-C 5'

Yes

IL-12R/Tpm1 (transcription factor?)

Cutaneous leishmaniasis [35]

C?

Yes

A

Mitchison Genome Biology 2000 2:comment2001.1   doi:10.1186/gb-2000-2-1-comment2001