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Principal Investigator  
Principal Investigator's Name: Sai Kaushik Shankar Ramesh Kumar
Institution: University of Minnesota
Department: Department of Laboratory Medicine and Pathology
Country:
Proposed Analysis: We will use GWAS to study the genetic variants that are associated with plasma concentration of SM [OH] C22:1. GWAS analysis will be conducted to identify SNP variants associated with SM(OH) C22:1. The plasma concentration for biomarker (SM(OH) C22:1) will be log-transformed due to their right-skewed distribution. To improve the power of identifying SNP variants, we intend to combine data from the ROSMAP study (sample size = 603) and ADNI 3 study. Standard GWAS QC will be performed on all 3 datasets and the datasets will be combined to perform a mega GWAS analysis to identify variants. Quality controls include the following: 1) The minimum call rate for SNP and individuals should be 98%. 2) Autosomal SNP’s that are not in Hardy -Weinberg equilibrium (p<1*10-6) will be excluded. 3) X-chromosome SNP’s will be analyzed to eliminate sex inconsistencies if any. 4) Only SNP with MAF>0.05 will be included for analysis.
Additional Investigators  
Investigator's Name: Danni Li
Proposed Analysis: We will use GWAS to study the genetic variants that are associated with plasma concentration of SM [OH] C22:1. GWAS analysis will be conducted to identify SNP variants associated with SM(OH) C22:1. The plasma concentration for biomarker (SM(OH) C22:1) will be log-transformed due to their right-skewed distribution. To improve the power of identifying SNP variants, we intend to combine data from the ROSMAP study (sample size = 603) and ADNI 3 study. Standard GWAS QC will be performed on all 3 datasets and the datasets will be combined to perform a mega GWAS analysis to identify variants. Quality controls include the following: 1) The minimum call rate for SNP and individuals should be 98%. 2) Autosomal SNP’s that are not in Hardy -Weinberg equilibrium (p<1*10-6) will be excluded. 3) X-chromosome SNP’s will be analyzed to eliminate sex inconsistencies if any. 4) Only SNP with MAF>0.05 will be included for analysis.