| Chrom |
CH-band |
Gene |
Disease |
Allele |
P-value |
Reference |
PubMedID |
| 1 |
1q31.1 |
CD45 |
Ms |
C to G in position 77 of PTPRC exon 4. |
P=1.510-4 |
Jacobsen M 00 |
11101853 |
| 1 |
1q31.1 |
CD45 |
SCld |
deletion |
na |
Kung C 00 |
10700239 |
| |
mouse |
CD45 |
autoimmune nephritis |
glutamate 613 to arginine |
na |
Majeti R 00 |
11163182 |
| |
|
|
|
|
|
|
|
| 1 |
1q32.1 |
IL10 |
SLE |
-4kb to 5' |
P=.0001 |
Gibson AW 01 |
11238636 |
| 1 |
1q32.1 |
IL10 |
SS |
-10 GCC haplotype (G -1082, C -819, and C -592 of the IL-10 gene |
P=<0.05 |
Hulkkonen J 01 |
11212157 |
| 1 |
1q32.1 |
IL10 |
RA |
genotype -1082GG |
P=<0.03 |
Huizinga TW 00 |
11085795 |
| 1 |
1q32.1 |
IL10 |
RA |
ATA haplotype, pts w/>4 joints |
P=0.02 |
Crawley E 99 |
10366102 |
| 1 |
1q32.1 |
IL10 |
GVHD |
IL-10 (-)1064 |
P=<.001 |
Middleton PG 98 |
9808588 |
| 1 |
1q32.1 |
IL10 |
IBD/UC |
-1082*G allele (high producer) was reduced in pts |
P=0.03 |
Tagore A 99 |
10551422 |
| |
|
|
|
|
|
|
|
| 2 |
2q12.2 |
IL1RA |
SLE |
IL1RN*2 allele |
na |
Blakemore AL 94 |
7945503 |
| 2 |
2q12.2 |
IL1RA |
Ulcerative Colitis |
IL1RN*2 allele |
P=0.007 |
Mansfield JC 94 |
8119534 |
| 2 |
2q12.2 |
IL1RA |
polymyalagia rheumatica |
IL1RN*2 allele |
na |
Boiardi L 00 |
11138328 |
| |
|
|
|
|
|
|
|
| 2 |
2q33.1 |
CTLA4 |
RA |
A/G 49 |
P=0.009 |
Gonzalez MF 99 |
10203024 |
| 2 |
2q33.1 |
CTLA4 |
GD |
A/G 49 |
P=<0.01 |
Yanagawa T 97 |
9459626 |
| 2 |
2q33.1 |
CTLA4 |
MS |
A/G 49 |
P=0.006 |
Harbo HF 99 |
10082437 |
| 2 |
2q33.1 |
CTLA4 |
H-Thy |
A/G 49 |
P=<0.03 |
Donner H 97 |
9398726 |
| 2 |
2q33.1 |
CTLA4 |
IDDM |
A/G 49 |
P=0.004 |
Takahiro A 99 |
|
| 2 |
2q33.1 |
CTLA4 |
IDDM |
|
na |
Yanagawa T 99 |
10052685 |
| 2 |
2q33.1 |
CTLA4 |
IDDM |
A/G 49 |
P=0.00002 |
Marron MP 97 |
9259273 |
| |
|
|
|
|
|
|
|
| 5 |
5q31.1 |
IL4 |
GD |
position 590 allele reduced in GD |
P=0.00004 |
Hunt PJ 00 |
10843185 |
| 5 |
5q31.1 |
IL4 |
increased IgE |
C+33T polymorphism with elevated total serum IgE |
P=<0.05 |
Suzuki I 00 |
11122213 |
| 5 |
5q31.1 |
IL4 |
asthma, FEV(1) |
C-589T IL-4 promoter genotype (TT) |
P=0.013 |
Burchard EG 99 |
10471619 |
| 5 |
5q31.1 |
IL4 |
AD |
-590C/T |
P=0.001 |
Kawashima T 98 |
9643293 |
| 5 |
5q31.1 |
IL4 |
RA |
IL-4(2) higher in non-destructive RA |
P=0.0006 |
Buchs N 00 |
11035134 |
| 5 |
5q31.1 |
IL4 |
MS |
IL-4 B1 allele, late onset MS |
P=<0.001 |
Vandenbroeck K 97 |
9184650 |
| |
|
|
|
|
|
|
|
| 5 |
5q31.1 |
IL13 |
asthma |
Gln110Arg |
P=0.017 |
Heinzmann A 00 |
10699178 |
| 5 |
5q31.1 |
IL13 |
asthma |
C to T at position -1055 (TT) |
P=0.002 |
van der Pouw Kraan TC 99 |
11197307 |
| |
|
|
|
|
|
|
|
| 6 |
6p21.31 |
TNFa |
asthma |
G/A -308 TNF2 |
P=0.003 |
Albuquerque R 98 |
9645594 |
| 6 |
6p21.31 |
TNFa |
PrimBilCirr |
G/A -308 TNF1 |
P=0.02 |
Gordon M 99 |
10453936 |
| 6 |
6p21.31 |
TNFa |
Sepsis |
G/A -308 TNF2 |
P=0.007 |
Majetschak M 99 |
10450735 |
| 6 |
6p21.31 |
TNFa |
Psoriasis |
G/A -308 TNF1 |
P=2.74 X 10 -8 |
Arias A 97 |
9395887 |
| 6 |
6p21.31 |
TNFa |
lep. Leprosy |
G/A -308 |
P=.02 |
Roy S 97 |
9237725 |
| 6 |
6p21.31 |
TNFa |
GVHD |
TNFd |
P=.006 |
Middleton PG 98 |
9808588 |
| 6 |
6p21.31 |
TNFa |
Silicosis |
G/A -308 TNF1 |
P=<0.05 |
Yucesoy B 01 |
11264025 |
| 6 |
6p21.31 |
TNFa |
SLE |
G/A -308 TNF1 |
na |
Sullivan KE 97 |
9416858 |
| 6 |
6p21.31 |
TNFa |
celiac |
G/A -308 TNF1 |
P=<0.001 |
McManus R 96 |
8655356 |
| 6 |
6p21.31 |
TNFa |
chronic bronchitis |
G/A -308 TNF1 |
P=<0.01 |
Huang S 97 |
9372657 |
| 6 |
6p21.31 |
TNFa |
Psoriasis |
-238 TNF1 |
P=1.64 X 10 -7 |
Arias A 97 |
9395887 |
| |
|
|
|
|
|
|
|
| 7 |
7p15.3 |
IL6 |
IDDM |
G,G(-174) increased in pts |
P=<0.002 |
Jahromi MM 00 |
11054276 |
| 7 |
7p15.3 |
IL6 |
SLE |
AT-rich minisatellite in 3' flanking region |
P=0.001 |
Linker-Israeli M 99 |
11197305 |
| 7 |
7p15.3 |
IL6 |
RA |
622 and -174 alleles, age of onset |
na |
Pascual M 00 |
11196696 |
| 7 |
7p15.3 |
IL6 |
MS |
carriage larger alleles A6-->A9, accelerated onset |
P=0.025 |
|
|
| |
|
|
|
|
|
|
|
| 12 |
12q12 |
VDR |
GD |
exon 2 initiation codon (VDR-FOK:I) polymorphism |
P=0.023 |
Ban Y 00 |
11134121 |
| 12 |
12q12 |
VDR |
RA |
BB/tt genotype |
na |
Garcia-Lozano JR 01 |
11251690 |
| 12 |
12q12 |
VDR |
MS |
bb |
P=0.0263 |
Fukazawa T 00 |
10465499 |
| 12 |
12q12 |
VDR |
CD |
tt |
P=0.017 |
Simmons JD 00 |
10896912 |
| 12 |
12q12 |
VDR |
IDDM |
Bsml |
P=0.015 |
Chang TJ 00 |
10792336 |
| |
|
|
|
|
|
|
|
| 12 |
12q21.1 |
IFNG |
asthma |
CA repeat polymorphism within the first intron |
P=.0018 |
Nakao F 01 |
11240951 |
| 12 |
12q21.1 |
IFNG |
IDDM |
CA repeat polymorphism within the first intron |
P=0.039 |
Awata T 94 |
7867888 |
| 12 |
12q21.1 |
IFNG |
GD |
CA repeat polymorphism within the first intron |
P=<0.04 |
Siegmund T 98 |
9848715 |
| 12 |
12q21.1 |
IFNG |
RA |
CA repeat polymorphism within the first intron |
P=<0.0001 |
Khani-Hanjani A 00 |
11022930 |
| |
|
|
|
|
|
|
|
| 16 |
16p11.1 |
IL4R |
asthma |
Ile50Val |
P=<0.0001 |
Mitsuyasu H 98 |
9620765 |
| 16 |
16p11.1 |
IL4R |
hyper-IgE syndrome and severe eczema, atopy |
Arg576G |
P=0.001 |
Hershey GKK 97 |
9392697 |
| 16 |
16p11.1 |
IL4R |
MS(PPMS) |
IL4R variant R551 |
P=0.001 |
Hackstein H 01 |
11164908 |
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