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We identified a total of 187 single-nucleotide polymorphisms (SNPs) at 11 gene loci in the 130-kb region on chromosome 6p21 containing a gene strongly associated with myocardial infarction (MI). By comparing our data with SNPs deposited in the dbSNP database at the National Center for Biotechnology Information, 46 of these SNPs (24.6%) were considered to be novel: four were identified in the P5-1 locus, 14 in the MICB locus, nine in the BAT1 locus, one in the ATP6V1G2 locus, six in the NFKBIL1 locus, one in the LTA locus, one in the TNF locus, five in the LST1 locus, four in the LY117a locus, and one in the AIF-1 locus. The SNP map presented here should provide as useful resource not only for examining the relationships between genotypes and susceptibility to the MI phenotype, but also for scanning of complex diseases mapped to this local segment on chromosome 6. [ABSTRACT FROM AUTHOR]

We constructed a high-density map of single-nucleotide polymorphisms (SNPs) present within a 31-kb region of human chromosome 13q31 that contains the human counterpart of the rabbit ITR gene, which encodes a rhodopsin-like G protein-coupled receptor associated with vascular remodeling. The elements of human ITR cDNA were distributed in 27,452 bp of genomic DNA; the nine exons ranged in size from 50 bp to 2271 bp, with an average size of 392 bp. We isolated a total of 22 SNPs from the ITR locus by systematically screening genomic DNA from 48 healthy Japanese individuals; three SNPs were present in the 5′ flanking region, two in coding elements, 12 in introns, and five in the 3′ untranslated region. By comparing our data with SNPs deposited in the dbSNP database in the National Center for Biotechnology Information, 19 of the 22 SNPs (86) were considered to be novel. The map presented here should help in evaluating the role of human ITR in cardiovascular diseases, in other diseases mapped to this segment on chromosome 13q31, and in a variety of pharmacogenetic effects. [ABSTRACT FROM AUTHOR]