Department of Clinical and Toxicological Analysis, School of Pharmaceutical Sciences, University of Sao Paulo, Sao Paulo, SP, Brazil.
Clin Chim Acta. 2010 May 2;411(9-10):631-7. doi: 10.1016/j.cca.2010.01.002. Epub 2010 Jan 11.
The SR-BI is a key component on the cholesterol metabolism. Polymorphisms in the SR-BI gene (SCARB1) were related with variations on plasma lipoprotein profile and other risk factors for cardiovascular disease. We tested the relationship of 3 SCARB1 single nucleotide polymorphisms (SNPs) with hypercholesterolemia in a Brazilian population and whether these variants can influence lipid-lowering response to atorvastatin.
c.4G>A, c.726+54C>T and c.1050C>T SNPs and serum concentrations of lipid and apolipoproteins were evaluated in 147 hypercholesterolemic (HC) and 185 normolipidemic (NL) unrelated Brazilian subjects. HC patients were treated with atorvastatin (10 mg/day/4 weeks).
Frequencies of SCARB1 polymorphisms were similar between the HC and NL groups (p>0.05). The T allele for c.726+54C>T was associated with higher LDL-c in NL and with higher apoB and apoB/apoAI in HC (p<0.05). HC individuals carrying c.1050C allele carriers (CC and CT genotypes) had lower change of total cholesterol, LDL-c, apoB and apoB/apoAI ratio (p<0.05) than the TT genotype carriers in response to atorvastatin.
The SCARB1 polymorphisms are related with variations in serum lipids in the Brazilian population and c.1050C>T SNP is associated with lipid-lowering atorvastatin response.
SR-BI 是胆固醇代谢的关键组成部分。SR-BI 基因（SCARB1）的多态性与血浆脂蛋白谱的变化和心血管疾病的其他危险因素有关。我们在巴西人群中检测了 3 个 SCARB1 单核苷酸多态性（SNP）与高胆固醇血症的关系，以及这些变体是否会影响阿托伐他汀的降脂反应。
在 147 名高胆固醇血症（HC）和 185 名正常血脂（NL）的无关巴西受试者中，评估了 c.4G>A、c.726+54C>T 和 c.1050C>T SNP 以及血脂和载脂蛋白浓度。HC 患者接受阿托伐他汀（10mg/天/4 周）治疗。
HC 和 NL 组之间 SCARB1 多态性的频率无差异（p>0.05）。c.726+54C>T 的 T 等位基因与 NL 中的 LDL-c 升高有关，与 HC 中的 apoB 和 apoB/apoAI 升高有关（p<0.05）。携带 c.1050C 等位基因（CC 和 CT 基因型）的 HC 个体与 TT 基因型携带者相比，阿托伐他汀治疗后的总胆固醇、LDL-c、apoB 和 apoB/apoAI 比值变化较低（p<0.05）。
SCARB1 多态性与巴西人群血清脂质的变化有关，c.1050C>T SNP 与阿托伐他汀的降脂反应有关。
