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Genetic studies implicated upstream stimulatory factor 1 (USF1) in familial combined hyperlipidemia because the rs2073658 minor allele was associated with reduced risk of familial combined hyperlipidemia and related disorders. The molecular mechanisms whereby rs2073658 influences trait expression have remained elusive.

Potential Role of Upstream Stimulatory Factor 1 Gene Variant in Familial Combined Hyperlipidemia and Related Disorders