title: A single-nucleotide polymorphism in the sterol-regulatory element-binding protein 1c gene is predictive of HIV-related hyperlipoproteinaemia.
abstract: A single-nucleotide polymorphism (3'322C/G) was identified in the gene encoding a key cholesterol/triglyceride regulator, sterol-regulatory element-binding protein 1c (SREBP-1c). Although it did not alter the amino acid sequence, SREBP-1c-3'322C/G was predictive of highly active antiretroviral therapy-related hyperlipoproteinaemia. Increases in cholesterol were less frequently associated with homozygous SREBP-1c-3'322G (genotype 22) than with heterozygous/homozygous SREBP-1c-3'322C (genotypes 11/12) and correlated with leptin and insulin increases, particularly in genotype 11/12 carriers. A functional mutation linked to SREBP-1c-3'322C/G or messenger RNA conformation differences may explain our findings.
authors.affiliation: Department of Clinical-Biological Sciences, University of Basel, Switzerland.
authors.forename: A R
authors.initials: AR
authors.lastname: Miserez
authors.forename: P Y
authors.initials: PY
authors.lastname: Muller
authors.forename: L
authors.initials: L
authors.lastname: Barella
authors.forename: M
authors.initials: M
authors.lastname: Schwietert
authors.forename: P
authors.initials: P
authors.lastname: Erb
authors.forename: P L
authors.initials: PL
authors.lastname: Vernazza
authors.forename: M
authors.initials: M
authors.lastname: Battegay
mesh_terms: D023241:Antiretroviral Therapy, Highly Active / Q000009:adverse effects*; D001057:Apolipoproteins E / Q000235:genetics; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D018791:CD4 Lymphocyte Count; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D015658:HIV Infections / Q000150:complications* / Q000188:drug therapy; D015497:HIV-1 / Q000502:physiology; D006801:Humans; D006951:Hyperlipoproteinemias / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011237:Predictive Value of Tests; D012367:RNA, Viral / Q000097:blood; D051780:Sterol Regulatory Element Binding Protein 1; D014157:Transcription Factors
chemical_list: D001057:Apolipoproteins E; D022762:CCAAT-Enhancer-Binding Proteins; D004268:DNA-Binding Proteins; D012367:RNA, Viral; C497387:SREBF1 protein, human; D051780:Sterol Regulatory Element Binding Protein 1; D014157:Transcription Factors