Defining multiple common "completely" conserved major histocompatibility complex SNP haplotypes.
The availability of both HLA data and genotypes for thousands of SNPs across the major histocompatibility complex (MHC) in 1240 complete families of the Type 1 Diabetes Genetics Consortium allowed us to analyze the occurrence and extent of megabase contiguous identity for founder chromosomes from unrelated individuals. We identified 82 HLA-defined haplotype groups, and within these groups, megabase regions of SNP identity were readily apparent. The conserved chromosomes within the 82 haplotype groups comprise approximately one third of the founder chromosomes. It is currently unknown whether such frequent conservation for groups of unrelated individuals is specific to the MHC, or if initial binning by highly polymorphic HLA alleles facilitated detection of a more general phenomenon within the MHC. Such common identity, specifically across the MHC, impacts type 1 diabetes susceptibility and may impact transplantation between unrelated individuals.
Baschal
Erin E
EE
Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Building M20, Aurora, CO 80045-6511, USA.
Aly
Theresa A
TA
Jasinski
Jean M
JM
Steck
Andrea K
AK
Noble
Janelle A
JA
Erlich
Henry A
HA
Eisenbarth
George S
GS
D002874:Chromosome Mapping; D015331:Cohort Studies; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005787:Gene Frequency; D015894:Genome, Human / Q000235:genetics; D005838:Genotype; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008285:Major Histocompatibility Complex / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D015234:HLA-A Antigens; D015235:HLA-B Antigens; D006684:HLA-DR Antigens