#1-3 (TC-AG-TC), and none of them carries the variant allele of SNP rs1074287 (#4) or the three IVS1 SNPs (#6-8). The subjects in subgroup “IVS1”/”118G” (subgroup 4) all carry at least one variant allele of SNPs #1-4 (TC-AG-TC-AG). Although the phase in these subjects cannot be determined unambiguously, the genotypes most probably reflect a combination of two haplogroups: 1) SNP #4/ IVS1 SNPs #6-8 and 2) 118G/ 5′ SNPs #1-3, based on the other subgroups in which the phase can be determined with certainty. This subgroup represents a small group of the original cohort (5% in controls and 8% in cases). The majority of the “REF”/REF” subgroup (subgroup 3) does not carry a variants allele of any of the genotyped SNPs. This exploratory data corroborates the HapMap data that the 118G haplogroup includes variant alleles of SNPs in the distant 5′ region and is distinct from the “INT1” haplogroup.
