Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease

来源 :第十四次全国医学遗传学学术会议 | 被引量 : 0次 | 上传用户:coldcoffee
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
  Parkinson disease (PD)is the second most common neurodegenerative disorder in the aged population and thought to involve many genetic loci.While a number of individual single nucleotide polymorphisms (SNPs) have been linked with PD, many remain to be found and no known markers or combinations of them have a useful predictive value for sporadic PD cases.The collective effects of genome wide minor alleles of common SNPs, or the minor allele content (MAC) in an individual, have recently been shown to be linked with quantitative variations of numerous complex traits in model organisms with higher MAC more likely linked with lower fitness.Here we found that PD cases had higher MAC than matched controls.A set of 37564 SNPs with MA (MAF < 0.4) more common in cases (P < 0.05) was found to have the best predictive accuracy.A weighted risk score calculated by using this set can predict 2% of PD cases (100% specificity) , which is comparable to using familial PD genes to identify familial PD cases.These results suggest a novel genetic component in PD and provide a useful genetic method to identify a small fraction of PD cases
其他文献
  目的:应用单核苷酸多态性芯片技术SNP-array对产前超声发现的一例肾脏异常胎儿(B超示胎儿双肾稍大、实质回声增强、羊水过多)进行全基因组拷贝数变异(CNVs)检测,筛查可能
会议
  目的:肝豆状核变性是一种罕见的常染色体隐性遗传性铜代谢障碍性疾病,致病基因为ATP7B.为探讨ATP7B基因外显子致病点突变的检出率以及ATP7B基因点突变的高发区域,本研究对
会议
  Purpose: Recently, three large genome-wide association studies have identified multiple variants associated with primary open angle glaucoma (POAG) near the
  α-地中海贫血(α-thalassemia)是一种常染色体隐性遗传的珠蛋白生成障碍的疾病.地中海贫血患者的临床表现差异很大,会有不同程度的贫血、疲乏无力及肝脾肿大,该病在中国
会议
  Background: AIdosterone synthase deficiency (ASD) is a rare autosomal recessive inherited disease.Mutations in the CYP11B2 gene are responsible for the occu
会议
  背景:雄激素不敏感综合征(Androgen Insensitivity Syndrome,AIS)是46,XY性发育异常(Disorders of Sex Development,DSD)患儿最常见的病因,雄激素受体(Androgen Receptor,
会议
  Mendelian disease is still the major genetic disorders happen in China, especially in the rural regions.But there is still not much prevalence data regardin
会议
  Objective: To analyze the etiology and outcome of non-immune hydrops fetalis (NIHF) in Southern China.Methods: Data were reviewed for pregnancies diagnosed
会议
  Turner syndrome (TS) is a heterogenous genetic disorder caused by X-chromosomal structural abnormalities that affects in about 1 of 2500 females.The affecte
会议
  肌萎缩侧索硬化(aroyotrophic lateral sclerosis,ALS)是最常见的运动神经元疾病,发病率约每年1-3/10万,患病率为每年4-8/10万。病变主要累及大脑皮质、脑干、脊髓前角等