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Allelic Discrimination for Single Nucleotide Polymorphisms in the Human Scavenger Receptor Class B Type 1 Gene Locus Using Fluorescent Probes

^a author for correspondence: fax 617-556-3103, e-mail dosgood@hnrc.tufts.edu

The scavenger receptor class B type 1 (SR-BI), a multiligand receptor, appears to be a physiologically relevant HDL receptor in rodents (1)(2). To determine its role in humans, the human SRB1 gene has been characterized (3)(4) and its genetic variation investigated in a Caucasian population (4). We have reported three variants, at exons 1 and 8 and intron 5, with allele frequencies >0.1 that have significant associations with lipid and anthropometric variables (4). The exon 1 variant (GA) was associated with a favorable, antiatherogenic lipid profile in men. Women carriers of the intron 5 variant (CT) showed a higher body mass index (P = 0.031) than those women homozygous for the common (wild-type) allele. The exon 8 variant (CT) was associated with lower LDL-cholesterol concentrations compared with those homozygous for the common (wild-type) allele. All three variants were single nucleotide polymorphisms (SNPs), and genotyping was carried out by restriction digestion with AluI, HaeIII, and ApaI for exon 1, exon 8, and intron 5, respectively. Because these are the first published associations indicating that SR-BI may play a role in lipid metabolism, these observations need to be examined and confirmed in other populations.

Traditionally, genotyping . . . [Full Text of this Article]

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References

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