To further explore the finding that the 118G haplogroup includes variant alleles in the distant 5′ region, a representative group of 103 subjects with and without the 118G allele was selected from the original cohort. This exploratory sample does not represent the general population and was selected to enable unambiguous phase determination. To reduce population admixture, only subjects with a European ancestry proportion of >0.7, based on AIMs analysis, were included. The exploratory representative sample is composed of the following subgroups (Table 2): 1) “118G”/”118G” (homozygotes for the 118G allele, n=5); 2) “REF”/”118G” (heterozygotes for 118G allele that are non-carriers of the IVS 1 variants, n=52); 3) “IVS1”/”118G” (double heterozygotes for 118A>G and the two IVS1 SNPs, n=17); and 4) “REF”/”REF” (represents of the reference genotype group, n=29, all controls).
