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 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.
Miserez
A R
AR
Department of Clinical-Biological Sciences, University of Basel, Switzerland.
Muller
P Y
PY
Barella
L
L
Schwietert
M
M
Erb
P
P
Vernazza
P L
PL
Battegay
M
M
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
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