Clinical and Translational Science最新文献

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High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. 使用电子医疗记录的非裔美国人LDL胆固醇的高密度GWAS揭示了APOE的强保护性变异。

Clinical and Translational Science Pub Date : 2012-10-01 Epub Date: 2012-08-23 DOI: 10.1111/j.1752-8062.2012.00446.x

Laura J Rasmussen-Torvik, Jennifer A Pacheco, Russell A Wilke, William K Thompson, Marylyn D Ritchie, Abel N Kho, Arun Muthalagu, M Geoff Hayes, Loren L Armstrong, Douglas A Scheftner, John T Wilkins, Rebecca L Zuvich, David Crosslin, Dan M Roden, Joshua C Denny, Gail P Jarvik, Christopher S Carlson, Iftikhar J Kullo, Suzette J Bielinski, Catherine A McCarty, Rongling Li, Teri A Manolio, Dana C Crawford, Rex L Chisholm

{"title":"High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.","authors":"Laura J Rasmussen-Torvik, Jennifer A Pacheco, Russell A Wilke, William K Thompson, Marylyn D Ritchie, Abel N Kho, Arun Muthalagu, M Geoff Hayes, Loren L Armstrong, Douglas A Scheftner, John T Wilkins, Rebecca L Zuvich, David Crosslin, Dan M Roden, Joshua C Denny, Gail P Jarvik, Christopher S Carlson, Iftikhar J Kullo, Suzette J Bielinski, Catherine A McCarty, Rongling Li, Teri A Manolio, Dana C Crawford, Rex L Chisholm","doi":"10.1111/j.1752-8062.2012.00446.x","DOIUrl":"10.1111/j.1752-8062.2012.00446.x","url":null,"abstract":"Only one low-density lipoprotein cholesterol (LDL-C) genome-wide association study (GWAS) has been previously reported in -African Americans. We performed a GWAS of LDL-C in African Americans using data extracted from electronic medical records (EMR) in the eMERGE network. African Americans were genotyped on the Illumina 1M chip. All LDL-C measurements, prescriptions, and diagnoses of concomitant disease were extracted from EMR. We created two analytic datasets; one dataset having median LDL-C calculated after the exclusion of some lab values based on comorbidities and medication (n= 618) and another dataset having median LDL-C calculated without any exclusions (n= 1,249). SNP rs7412 in APOE was strongly associated with LDL-C in both datasets (p < 5 × 10(-8) ). In the dataset with exclusions, a decrease of 20.0 mg/dL per minor allele was observed. The effect size was attenuated (12.3 mg/dL) in the dataset without any lab values excluded. Although other signals in APOE have been detected in previous GWAS, this large and important SNP association has not been well detected in large GWAS because rs7412 was not included on many genotyping arrays. Use of median LDL-C extracted from EMR after exclusions for medications and comorbidities increased the percentage of trait variance explained by genetic variation.","PeriodicalId":501617,"journal":{"name":"Clinical and Translational Science","volume":" ","pages":"394-9"},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521536/pdf/CTS-5-394.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30979934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Utah Center for Clinical and Translational Science: transformation through collaboration. 犹他州临床和转化科学中心：合作转化。

Clinical and Translational Science Pub Date : 2012-10-01 DOI: 10.1111/j.1752-8062.2012.00445.x

Carrie L Byington, Lucy Savitz, Michael Varner, Donald McClain

引用次数: 0

Training NIH K award recipients: the role of the mentor. 培训NIH K奖获得者：导师的角色。

Clinical and Translational Science Pub Date : 2012-10-01 Epub Date: 2012-08-07 DOI: 10.1111/j.1752-8062.2012.00436.x

Elizabeth Ripley, Monika Markowitz, Ann Nichols-Casebolt, Larry Williams, Francis Macrina

{"title":"Training NIH K award recipients: the role of the mentor.","authors":"Elizabeth Ripley, Monika Markowitz, Ann Nichols-Casebolt, Larry Williams, Francis Macrina","doi":"10.1111/j.1752-8062.2012.00436.x","DOIUrl":"10.1111/j.1752-8062.2012.00436.x","url":null,"abstract":"Unlabelled: Mentors play important roles in training new investigators. This study was designed to determine characteristics of NIH mentored K award recipients and their mentors, their interpersonal interactions, and the factors, which influence satisfaction within this relationship.Method: A survey of 3027 NIH mentored K recipients and 1384 mentors was conducted in 2009. Nine hundred twenty-nine (30.7%) of the K recipients and 448 (32.4%) mentors completed the survey.Results: The gender of K respondents was evenly divided while the mentors were 72.1% male. The overall rating of their mentors was positive. Ideally, both thought the mentor should be important in research training; however, in actual practice, both rated the importance as lower. A total of 88.2% of recipients were satisfied with their relationship. Although the number of black K recipients was low, this group was more likely to be dissatisfied with the mentor relationship (6/29 or 20.7%) than their white counterparts. The frequency of meeting or communicating was correlated with K recipient satisfaction.Conclusions: Overall K recipients are satisfied with their mentor relationships. Although the number of black K recipient respondents was small, the higher level of mentor dissatisfaction should be further evaluated. Qualities of mentors, including the frequency of interactions and accessibility, can influence satisfaction.","PeriodicalId":501617,"journal":{"name":"Clinical and Translational Science","volume":" ","pages":"386-93"},"PeriodicalIF":0.0,"publicationDate":"2012-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3636565/pdf/CTS-5-386.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30979933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

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