Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
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DOI：
10.1002/mds.24886
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发表时间：
2012-03-01
影响因子：
8.6
通讯作者：
Hadjigeorgiou, Georgios M.
中科院分区：
文献类型：
--
作者：
Michelakakis, Helen;Xiromerisiou, Georgia;Hadjigeorgiou, Georgios M.
溶酶体蛋白2(LIMP2)是清道夫受体B类成员2(SCARB2)基因的产物，是一种普遍表达的跨膜蛋白，是甘露糖-6-磷酸非依赖性葡萄糖脑苷酶受体(β-GCase)，该蛋白的缺失会导致高谢病。几项研究表明，β-GCase基因突变与临床上以帕金森症和路易体相关病理为特征的疾病之间存在联系。我们假设SCARB2基因的遗传变异可能是帕金森病(PD)的危险因素。对347例希腊散发性帕金森病患者和329例健康对照进行候选基因研究，探讨SCARB2基因5种多态(rs6824953、rs6825004、rs4241591、rs9991821和rs17234715)与帕金森病发病的关系。单基因座分析显示，仅rs6825004基因多态与中国汉族人存在关联：广义优势比(ORG)为0.68(95%可信区间[CI]，0.510.90)，等位基因检测的OR值为OR=0.71(95%可信区间，0.560.90)。单倍型分析显示GCGGT单倍型与GCGGT单倍型相关(P<；0.01)。我们的研究支持SCARB2基因座对帕金森病的遗传贡献；未来有必要在更大的队列中进行研究来验证这一发现。(C)2012年运动无序社
Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphateindependent receptor for glucocerebrosidase (beta-GCase); a deficiency in this protein causes Gaucher disease. Several studies have shown a link between mutations in the beta-GCase gene and diseases characterized clinically by Parkinsonism and by the presence of Lewy bodyrelated pathology. We hypothesized that genetic variants in the SCARB2 gene could be risk factors for Parkinson's disease (PD). A candidate-gene study of 347 Greek patients with sporadic PD and 329 healthy controls was conducted to investigate the association between 5 polymorphisms in the SCARB2 gene (rs6824953, rs6825004, rs4241591, rs9991821, and rs17234715) and the development of PD. The single-locus analysis for the 5 polymorphisms revealed an association only for the rs6825004 polymorphism: the generalized odds ratio (ORG) was 0.68 (95% confidence interval [CI], 0.510.90), and the OR for the allelic test was OR = 0.71 (95% CI, 0.560.90). Haplotype analysis showed an association for the GCGGT haplotype (P < .01). Our study supports a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding. (c) 2012 Movement Disorder Society