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Haplotype Structure and Genotype-Phenotype Correlations of the Sulfonylurea Receptor (SUR1) and the Islet ATP-Sensitive Potassium Channel (Kir6.2) Gene Region.

By Jose C. Florez 1,2,3,4, Noël Burtt 3, Paul I.W. de Bakker 1,3,5, Peter Almgren 6, Tiinamaija Tuomi 7, Johan Holmkvist 6, Daniel Gaudet 8, Thomas J. Hudson 9, Steve F. Schaffner 3, Mark J. Daly 3, Joel N. Hirschhorn 3,5,10, Leif Groop 6 (*) and David Altshuler 1,2,3,4,5 (*)

1 Department of Molecular Biology and 2 Diabetes Unit, Massachusetts General Hospital, Boston, Massachusetts; 3 Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts; Departments of 4 Medicine and 5 Genetics, Harvard Medical School, Boston, Massachusetts; 6 Department of Endocrinology, University Hospital MAS, Lund University, Malmö, Sweden; 7 Department of Medicine, Helsinki University Central Hospital and Folkhalsan Research Institute, Helsinki, Finland; 8 University of Montreal Community Genomic Center, Chicoutimi Hospital, Quebec, Canada; 9 McGill University and Genome Quebec Innovation Centre, Montreal, Canada; and 10 Divisions of Genetics and Endocrinology, Children’s Hospital, Boston, Massachusetts

(*) These authors jointly supervised the project

Diabetes. 2004 May;53(5):1360-8.

1. Appendix Table 5: List of working single nucleotide polymorphisms (SNPs) genotyped across the SUR1/Kir6.2 gene region.

2. Appendix Table 6: Analysis of predicted diabetic genotypes in all published case-control samples.

3. SUR_KIR_SNPs: List of assays for all SNPs genotyped in a CEPH panel in order to derive the haplotype structure of the region. Each SNP is listed with their chromosome 11 position according to the November 2002 freeze of the University of California Santa Cruz genome browser (http://genome.ucsc.edu/cgi-bin/hgGateway).  Forward and reverse PCR primers sequences, the sequence of the extension probe used in a Sequenom platform, its forward or reverse orientation, success or failure of the assay, reason for failure and the SNP number in our study are indicated. “Genotyping <75%”, technical success of <75% of assays; “Failed HW”, failed Hardy-Weinberg equilibrium at P <0.01; “% MAF”, percent minor allele frequency.

4. SUR_KIR_CEPH_genotypes: Raw genotype data for the 77 working SNPs in the SUR1/Kir6.2 region genotyped in our CEPH panel, composed of 12 multigenerational pedigrees. “0 0”, failed assay.