Association of polymorphisms at the SR-BI gene locus with plasma lipid levels and body mass index in a white population

Acton, S. ; Osgood, D. ; Donoghue, M. ; Corella, D. ; Pocovi, M. (Universidad de Zaragoza) ; Cenarro, A. (Universidad de Zaragoza) ; Mozas, P. ; Keilty, J. ; Squazzo, S. ; Woolf, E. A. ; Ordovas, J. M.

Resumen: The scavenger receptor class B type I (SR-BI) is a lipoprotein receptor that has been shown to be important in high density lipoprotein cholesterol (HDL-C) metabolism in mice. To determine its role in humans, we have characterized the human SR-BI gene and investigated its genetic variation in 489 white men and women. Five variants were demonstrated: 2 in introns (3 and 5) and 3 in exons (1, 8, and 11). Three variants at exons 1 and 8 and intron 5 with allele frequencies >0.1 were used to examine associations with lipid or anthropometric variables. The exon 1 variant was significantly (P<0.05) associated with increased HDL-C and lower low density lipoprotein cholesterol (LDL-C) values in men, but no associations were observed in women. The exon 8 variant was associated in women with lower LDL-C concentrations (3.05±0.98 mmol/L and 3.00±0.93 mmol/L for heterozygotes and homozygotes, respectively) compared with women homozygous for the common allele (3.39±1.09 mmol/L, P=0.043). No associations for this variant were observed in men. Women carriers of the intron 5 variant showed a higher body mass index (23.8±3.8 kg/m2, P=0.031) than those women homozygous for the common allele (22.4±3.4 kg/m2). Similar results were observed after haplotype analysis. Multiple regression analysis using HDL-C, LDL-C, and body mass index as dependent variables and age, sex, and each of the genetic variants as predictors also provided similar results. The associations found with both LDL-C and HDL-C suggest that SR-BI may play a role in the metabolism of both lipoprotein classes in humans.

Idioma: Inglés

DOI: 10.1161/01.atv.19.7.1734

Año: 1999

Publicado en: Arteriosclerosis, Thrombosis, and Vascular Biology 19, 7 (1999), 1734-1743
ISSN: 1079-5642

Factor impacto JCR: 5.406 (1999)

Categ. JCR: PERIPHERAL VASCULAR DISEASE rank: 5 / 44 = 0.114 (1999) - Q1 - T1
Categ. JCR: HEMATOLOGY rank: 5 / 59 = 0.085 (1999) - Q1 - T1

Tipo y forma: Article (PostPrint)

Área (Departamento): Área Bioquímica y Biolog.Mole. (Dpto. Bioq.Biolog.Mol. Celular)
Área (Departamento): Área Historia Contemporánea (Dpto. Historia Moder. Contemp.)