Polymorphism in regulatory gene sequences

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

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