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• Linkage analysis and allelic association studies identified association within the region of chromosome 1q21-q23 consistently linked to FCHL with the associated linkage disequilibrium (LD) bin containing variants in upstream transcription factor 1 (USF1)• A SNP (SNP rs3737787 residing in the 3′ UTR of USF1 captures the disease-associated signal

• Previous studies involving direct sequencing, extensive genotyping and gene expression analyses of the USF1 region have not identified any SNPs in the rs3737787 LD bin altering the coding sequence or the expression of USF1 itself in fat or lymphoblasts• It has, however, been demonstrated that genes known to be regulated by USF1 were differentially expressed between rs3737787 genotype groups in Finnish fat biopsies.• The direct targets of USF1 were previously identified using chromatin immunoprecipitation and high-resolution promoter microarrays (ChIP-Chip).