K. Silander et al., "Genetic variation near the hepatocyte nuclear factor-4á gene predicts susceptibility to type 2 diabetes," Diabetes, 53:1141-9, 2004. (Cited in 68 papers)
A team of Finnish and US researchers, led by University of Michigan professor Michael Boehnke, found that several single nucleotide polymorphisms (SNPs) around the transcription factor, hepatocyte nuclear factor-4á (HNF4A), were associated with diabetes and traits related to the disease.
Previous scrutiny of the variants around HNF4A yielded disappointing results, because the group hadn't looked far enough upstream. Looking at pooled samples of a 10Mb region of chromosome 20, Boehnke's group located variants associated with diabetes about 47kb upstream of the gene, around P2, a newly discovered alternate promoter.
The work ahead:
Boehnke says the next step is to determine if there is an association between type 2 diabetes risk and the variant a person has...