Ritsch Andreas, Sonderegger Gudrun, Sandhofer Anton, Stanzl Ursula, Tancevski Ivan, Eller Philipp, Schgoer Wilfried, Wehinger Andreas, Mueller Thomas, Haltmayer Meinhard, Patsch Josef R
Department of Medicine, Innsbruck Medical University, A-6020 Innsbruck, and Department of Laboratory Medicine, Konventhospital Barmherzige Brueder, Linz, Austria.
Metabolism. 2007 Aug;56(8):1135-41. doi: 10.1016/j.metabol.2007.04.009.
Genetic variations of the scavenger receptor class B type I (SR-BI) have been demonstrated to be associated with plasma lipid parameters, anthropomorphic parameters, and coronary artery disease. We determined the frequency of 3 single-nucleotide polymorphisms within the SR-BI gene (SCARB1) in 354 patients with peripheral arterial disease (PAD) and 354 controls matched for age, sex, and diabetes and related to lipids and disease state, that is, PAD. SCARB1 combined genotype exon 1/intron 5/exon 8 were found to be associated with plasma total and low-density lipoprotein cholesterol levels, respectively. In terms of disease, a significant risk for PAD was observed in female subjects carrying the common allele of exon 8 (odds ratio, 2.623; 95% confidence interval, 1.321-5.208; P=.003). The variant allele of intron 5 was found to be a risk factor for PAD in men (odds ratio, 2.182; 95% confidence interval, 1.288-3.698; P=.005). Furthermore, the SCARB1 combined genotype intron 5/exon 8 proved predictive for PAD in the whole population (P=.006), which remained significant after correction for traditional risk factors. In conclusion, in the present study population, SCARB1 polymorphisms not only show associations with plasma levels of total and low-density lipoprotein cholesterol, respectively, but also with the risk for PAD.
I型清道夫受体(SR-BI)的基因变异已被证明与血浆脂质参数、人体测量参数和冠状动脉疾病有关。我们测定了354例外周动脉疾病(PAD)患者和354例年龄、性别和糖尿病相匹配的对照者中SR-BI基因(SCARB1)内3个单核苷酸多态性的频率,并将其与脂质和疾病状态(即PAD)相关联。发现SCARB1联合基因型外显子1/内含子5/外显子8分别与血浆总胆固醇和低密度脂蛋白胆固醇水平相关。就疾病而言,携带外显子8常见等位基因的女性受试者患PAD的风险显著增加(比值比,2.623;95%置信区间,1.321 - 5.208;P = 0.003)。发现内含子5的变异等位基因是男性患PAD的危险因素(比值比,2.182;95%置信区间,1.288 - 3.698;P = 0.005)。此外,SCARB1联合基因型内含子5/外显子8在整个人群中被证明对PAD具有预测性(P = 0.006),在对传统危险因素进行校正后仍具有显著性。总之,在本研究人群中,SCARB1多态性不仅分别与血浆总胆固醇和低密度脂蛋白胆固醇水平相关,还与患PAD的风险相关。