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