The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
James P Pirruccello - One of the best experts on this subject based on the ideXlab platform.
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Candidate Gene association resource care design methods and proof of concept
Circulation-cardiovascular Genetics, 2010Co-Authors: Kiran Musunuru, Guillaume Lettre, Taylor Young, Deborah N Farlow, James P Pirruccello, Kenechi Ejebe, Brendan J Keating, Qiong Yang, Minghuei ChenAbstract:Background— The National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe), a planned cross-cohort analysis of Genetic variation in cardiovascular, pulmonary, hematologic, and sleep-related traits, comprises >40 000 participants representing 4 ethnic groups in 9 community-based cohorts. The goals of CARe include the discovery of new variants associated with traits using a Candidate Gene approach and the discovery of new variants using the genome-wide association mapping approach specifically in African Americans. Methods and Results— CARe has assembled DNA samples for >40 000 individuals self-identified as European American, African American, Hispanic, or Chinese American, with accompanying data on hundreds of phenotypes that have been standardized and deposited in the CARe Phenotype Database. All participants were genotyped for 7 single-nucleotide polymorphisms (SNPs) selected based on prior association evidence. We performed association analyses relating each of these SNPs to lipid traits, stratified by sex and ethnicity, and adjusted for age and age squared. In at least 2 of the ethnic groups, SNPs near CETP , LIPC , and LPL strongly replicated for association with high-density lipoprotein cholesterol concentrations, PCSK9 with low-density lipoprotein cholesterol levels, and LPL and APOA5 with serum triglycerides. Notably, some SNPs showed varying effect sizes and significance of association in different ethnic groups. Conclusions— The CARe Pilot Study validates the operational framework for phenotype collection, SNP genotyping, and analytic pipeline of the CARe project and validates the planned Candidate Gene study of ≈2000 biological Candidate loci in all participants and genome-wide association study in ≈8000 African American participants. CARe will serve as a valuable resource for the scientific community.
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Candidate Gene association resource care design methods and proof of concept
Circulation-cardiovascular Genetics, 2010Co-Authors: Kiran Musunuru, Guillaume Lettre, Taylor Young, Deborah N Farlow, James P PirruccelloAbstract:Background —The National Heart, Lung, and Blood Institute9s Candidate Gene Association Resource (CARe), a planned cross-cohort analysis of Genetic variation in cardiovascular, pulmonary, hematological, and sleep-related traits, comprises more than 40,000 participants representing four ethnic groups in nine community-based cohorts. The goals of CARe include the discovery of new variants associated with traits using a Candidate Gene approach and the discovery of new variants using the genome-wide association mapping approach specifically in African Americans. Methods and Results —CARe has assembled DNA samples for more than 40,000 individuals self-identified as European-American, African-American, Hispanic, or Chinese-American, with accompanying data on hundreds of phenotypes that have been standardized and deposited in the CARe Phenotype Database. All participants were genotyped for seven single-nucleotide polymorphisms (SNPs) selected based on prior association evidence. We performed association analyses relating each of these SNPs to lipid traits, stratified by gender and ethnicity and adjusted for age and age2. In at least two of the ethnic groups, SNPs near CETP , LIPC , and LPL strongly replicated for association with high-density lipoprotein cholesterol concentrations, PCSK9 with low-density lipoprotein cholesterol levels, and LPL and APOA5 with serum triglycerides. Notably, some SNPs showed varying effect sizes and significance of association in different ethnic groups. Conclusions —The CARe Pilot Study validates the operational framework for phenotype collection, SNP genotyping, and analytical pipeline of the CARe project and validates the planned Candidate Gene study of ~2,000 biologic Candidate loci in all participants and genome-wide association study in ~8,000 African-American participants. CARe will serve as a valuable resource for the scientific community.
Kiran Musunuru - One of the best experts on this subject based on the ideXlab platform.
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Candidate Gene association resource care design methods and proof of concept
Circulation-cardiovascular Genetics, 2010Co-Authors: Kiran Musunuru, Guillaume Lettre, Taylor Young, Deborah N Farlow, James P Pirruccello, Kenechi Ejebe, Brendan J Keating, Qiong Yang, Minghuei ChenAbstract:Background— The National Heart, Lung, and Blood Institute's Candidate Gene Association Resource (CARe), a planned cross-cohort analysis of Genetic variation in cardiovascular, pulmonary, hematologic, and sleep-related traits, comprises >40 000 participants representing 4 ethnic groups in 9 community-based cohorts. The goals of CARe include the discovery of new variants associated with traits using a Candidate Gene approach and the discovery of new variants using the genome-wide association mapping approach specifically in African Americans. Methods and Results— CARe has assembled DNA samples for >40 000 individuals self-identified as European American, African American, Hispanic, or Chinese American, with accompanying data on hundreds of phenotypes that have been standardized and deposited in the CARe Phenotype Database. All participants were genotyped for 7 single-nucleotide polymorphisms (SNPs) selected based on prior association evidence. We performed association analyses relating each of these SNPs to lipid traits, stratified by sex and ethnicity, and adjusted for age and age squared. In at least 2 of the ethnic groups, SNPs near CETP , LIPC , and LPL strongly replicated for association with high-density lipoprotein cholesterol concentrations, PCSK9 with low-density lipoprotein cholesterol levels, and LPL and APOA5 with serum triglycerides. Notably, some SNPs showed varying effect sizes and significance of association in different ethnic groups. Conclusions— The CARe Pilot Study validates the operational framework for phenotype collection, SNP genotyping, and analytic pipeline of the CARe project and validates the planned Candidate Gene study of ≈2000 biological Candidate loci in all participants and genome-wide association study in ≈8000 African American participants. CARe will serve as a valuable resource for the scientific community.
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Candidate Gene association resource care design methods and proof of concept
Circulation-cardiovascular Genetics, 2010Co-Authors: Kiran Musunuru, Guillaume Lettre, Taylor Young, Deborah N Farlow, James P PirruccelloAbstract:Background —The National Heart, Lung, and Blood Institute9s Candidate Gene Association Resource (CARe), a planned cross-cohort analysis of Genetic variation in cardiovascular, pulmonary, hematological, and sleep-related traits, comprises more than 40,000 participants representing four ethnic groups in nine community-based cohorts. The goals of CARe include the discovery of new variants associated with traits using a Candidate Gene approach and the discovery of new variants using the genome-wide association mapping approach specifically in African Americans. Methods and Results —CARe has assembled DNA samples for more than 40,000 individuals self-identified as European-American, African-American, Hispanic, or Chinese-American, with accompanying data on hundreds of phenotypes that have been standardized and deposited in the CARe Phenotype Database. All participants were genotyped for seven single-nucleotide polymorphisms (SNPs) selected based on prior association evidence. We performed association analyses relating each of these SNPs to lipid traits, stratified by gender and ethnicity and adjusted for age and age2. In at least two of the ethnic groups, SNPs near CETP , LIPC , and LPL strongly replicated for association with high-density lipoprotein cholesterol concentrations, PCSK9 with low-density lipoprotein cholesterol levels, and LPL and APOA5 with serum triglycerides. Notably, some SNPs showed varying effect sizes and significance of association in different ethnic groups. Conclusions —The CARe Pilot Study validates the operational framework for phenotype collection, SNP genotyping, and analytical pipeline of the CARe project and validates the planned Candidate Gene study of ~2,000 biologic Candidate loci in all participants and genome-wide association study in ~8,000 African-American participants. CARe will serve as a valuable resource for the scientific community.
Michal Prochazka - One of the best experts on this subject based on the ideXlab platform.
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analysis of slc19a2 on 1q23 3 encoding a thiamine transporter as a Candidate Gene for type 2 diabetes mellitus in pima indians
Molecular Genetics and Metabolism, 2001Co-Authors: Farook Thameem, Johanna K Wolford, Clifton Bogardus, Michal ProchazkaAbstract:Abstract Mutations in the SLC19A2 Gene cause thiamine-responsive megaloblastic anemia (TRMA) frequently combined with diabetes mellitus and deafness. Type 2 diabetes mellitus is heritable and a region on 1q21–q23 encompassing SLC19A2 was linked with the disease in Pima Indians and Caucasians. We therefore investigated this Candidate Gene in selected diabetic and nondiabetic Pimas and found no variants. We conclude that mutations in SLC19A2 do not contribute to type 2 diabetes in this population.
Junyi Gai - One of the best experts on this subject based on the ideXlab platform.
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inheritance fine mapping and Candidate Gene analyses of resistance to soybean mosaic virus strain sc5 in soybean
Molecular Genetics and Genomics, 2017Co-Authors: A Karthikeyan, Rui Ren, Haijian Zhi, Hua Jiang, Shouyi Chen, Junyi GaiAbstract:Soybean mosaic virus (SMV) is one of the most devastating pathogens for soybeans in China. Among the country-wide 22 strains, SC5 dominates in Huang-Huai and Changjiang valleys. For controlling its damage, the resistance Gene was searched through Mendelian inheritance study, Gene fine-mapping, and Candidate Gene analysis combined with qRT-PCR (quantitative real-time polymerase chain reaction) analysis. The parents F1, F2, and RILs (recombinant inbred lines) of the cross Kefeng-1 (Resistance, R) × NN1138-2 (Susceptible, S) were used to examine the inheritance of SC5-resistance. The F1 was resistant and the F2 and RILs segregated in a 3R:1S and 1R:1S ratio, respectively, indicating a single dominant Gene conferring the Kefeng-1 resistance. Subsequently, the genomic region conferring the resistance was found in “Bin 352–Bin353 with 500 kb” on Chromosome 2 using the phenotyping data of the 427 RILs and a high-density Genetic map with 4703 bin markers. In the 500 kb genomic region, 38 putative Genes are contained. The association analysis between the SNPs in a putative Gene and the resistance phenotype for the 427 RILs prioritized 11 Candidate Genes using Chi-square criterion. The expression levels of these Genes were tested by qRT-PCR. On infection with SC5, 7 out of the 11 Genes had differential expression in Kefeng-1 and NN1138-2. Furthermore, integrating SNP-phenotype association analysis with qRT-PCR expression profiling analysis, Glyma02g13495 was found the most possible Candidate Gene for SC5-resistance. This finding can facilitate the breeding for SC5-resistance through marker-assisted selection and provide a platform to gain a better understanding of SMV-resistance Gene system in soybean.
Niina Sandholm - One of the best experts on this subject based on the ideXlab platform.
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Candidate Gene association study for diabetic retinopathy in persons with type 2 diabetes the Candidate Gene association resource care
Investigative Ophthalmology & Visual Science, 2011Co-Authors: Lucia Sobrin, Todd Green, Xueling Sim, Richard A Jensen, Shyong E Tai, Wan Ting Tay, Jie Jin Wang, Paul Mitchell, Niina SandholmAbstract:Diabetic retinopathy (DR) is the leading cause of blindness in working-age Americans1,2 and is increasing in prevalence as rates of type 2 diabetes (T2D) soar worldwide.3,4 The frequency and severity of DR are heteroGeneous within and across ethnic groups,5 even with adjustment for risk factors such as duration of diabetes and glycemic control.2,6,7 There are people who have a long duration of diabetes without DR and those who have severe DR despite relatively good glycemic control. For these reasons, Genetic risk factors are thought to play a role in DR. Heritability has been estimated to be as high as 27% for DR and 52% for proliferative diabetic retinopathy (PDR).8–10 However, Genetic association studies for DR have been thus far limited mostly to studies of one or a modest number of Candidate Genes.11,12 Most reported associations have not been consistently reproduced.11,13,14 In contrast to DR, Genetic association studies for T2D have revealed many consistently associated Genes. Genes that increase T2D risk may also predispose to development of retinopathy. In the case of diabetic nephropathy (DN), a TCF7L2 variant increases the risk of developing DN beyond the risk of diabetes.15 Because there is evidence that DR shares risk factors and pathophysiological mechanisms with DN and macrovascular diabetic complications,6,16–21 Genes associated with DN and atherosclerotic vascular disease may also be associated with DR. The Candidate Gene Association Resource (CARe) is a collaboration for association analyses of genotypes and cardiovascular disease phenotypes.22 It comprises >40,000 participants from nine cohorts who have been genotyped for 49,320 single nucleotide polymorphisms (SNPs) from approximately 2,000 Candidate Genes postulated or known to increase risk of cardiovascular, metabolic, and inflammatory diseases.23 It includes 2691 T2D participants with fundus photographs of multiple ethnicities. Thus, the CARe framework provides an opportunity to investigate Genetic associations for DR with a Candidate Gene approach. CARe genotyped many Genes previously associated with DR,24,25 DN,25–27 and T2D.28–34 The first purpose of this study was to investigate whether these Genes are also associated with the presence of DR in CARe. The second purpose was to determine whether the remaining Genes included in the CARe genotyping platform, which were also chosen as potential cardiovascular disease Genes, are associated with DR.
