| 摘要 |
We have identified and isolated a 12 kb region immediately upstream of the AKT1 gene containing eight single nucleotide polymorphic polynucleotides (SNPs) in 4 haplotype regions that show strong association with body composition, Basal Mass Index, and AKT1 expression enhancement in human males. A four-locus haplotype (Haplotype 2) was defined where residues within highly conserved regulatory regions were altered. This haplotype explained up to 26% of population variation in bone cortical volume, 12% of subcutaneous fat volume, and 9% of strength variation, resulting in a body build with large bones, strong muscles, and low subcutaneous fat. Other SNPs detect, presymptomatically, the potential for increased amounts of subcutaneous fat and Type II diabetes. The detection of these SNPs by the techniques described herein forms the foundation for genotype-specific clinical interventions designed to slow the rapid population increases in obesity and Type II diabetes.
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