Caspase 7 is a positional candidate gene for IDDM 17 in a Bedouin Arab family.
The IDDM 17 locus was mapped to an 8-cM interval at chromosome 10q25.1 based on linkage in a large Bedouin Arab family with 19 affected relatives. Caspase 7 (CASP7), an apoptosis-related cysteine protease, is one of the few known genes in this region. CASP7 is involved in the activation cascade of caspases responsible for apoptosis execution. Only 1 of the 18 SNPs in CASP7 (SNP144692) differed significantly in frequency in the haplotypes found in affected individuals compared to control Bedouin haplotypes. This same SNP showed evidence of association with diabetes in a subset of patients (DR3/DR4*0302) from HBDI families.
Babu
Sunanda R
SR
Barbara Davis Center for Childhood Diabetes, University of Colorado Health Sciences Center, Denver, Colorado 80262, USA. sunanda.babu@uchsc.edu
Bao
Fei
F
Roberts
Christine M
CM
Martin
Allison K
AK
Gowan
Katherine
K
Eisenbarth
George S
GS
Fain
Pamela R
PR
D018912:Arabs; D053179:Caspase 7; D020169:Caspases / Q000235:genetics*; D022202:Chromosomes, Artificial, Bacterial; D003922:Diabetes Mellitus, Type 1 / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide
C505520:CASP7 protein, human; D053179:Caspase 7; D020169:Caspases