A single-nucleotide polymorphism in the sterol-regulatory element-binding protein 1c gene is predictive of HIV-related hyperlipoproteinaemia

A single-nucleotide polymorphism (3'322C/G) was identified in the gene enco ding a key cholesterol/triglyceride regulator, sterol-regulatory element-bi nding protein 1c (SREBP-1c). Although it did not alter the amino acid seque nce, SREBP-1c-3'322C/G was predictive of highly active antiretroviral thera py-related hyperlipoproteinaemia. Increases in cholesterol were less freque ntly associated with homozygous SPEBP-1c-3'322G (genotype 22) than with het erozygous/homozygous SR-EBP-1c-3'322C (genotypes 11/12) and correlated with leptin and insulin increases, particularly in genotype 11/12 carriers. A f unctional mutation linked to SREBP-1c-3'322C/G or messenger RNA conformatio n differences may explain our findings.