How to use an article about genetic association: A: Background concepts. Export

@article{citeulike:3871466, abstract = {This is the first in a series of 3 articles serving as an introduction to clinicians wishing to read and critically appraise genetic association studies. We summarize the key concepts in genetics that clinicians must understand to review these studies, including the structure of DNA, transcription and translation, patterns of inheritance, Hardy-Weinberg equilibrium, and linkage disequilibrium. We review the types of DNA variation, including single-nucleotide polymorphisms (SNPs), insertions, and deletions, and how these can affect protein function. We introduce the idea of genetic association for both single-candidate gene and genome-wide association studies, in which thousands of genetic variants are tested for association with disease. We use the APOE polymorphism and its association with dementia as a case study to demonstrate the concepts and introduce the terminology used in this field. The second and third articles will focus on issues of validity and applicability.}, author = {Attia, J. and Ioannidis, J. P. and Thakkinstian, A. and McEvoy, M. and Scott, R. J. and Minelli, C. and Thompson, J. and Infante-Rivard, C. and Guyatt, G.}, citeulike-article-id = {3871466}, citeulike-linkout-0 = {http://dx.doi.org/10.1001/jama.2008.901}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/19126812}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=19126812}, day = {7}, doi = {10.1001/jama.2008.901}, issn = {1538-3598}, journal = {JAMA : the journal of the American Medical Association}, keywords = {bioinformatics, evidence}, month = {January}, number = {1}, pages = {74--81}, posted-at = {2009-01-09 15:54:20}, priority = {2}, title = {How to use an article about genetic association: A: Background concepts.}, url = {http://dx.doi.org/10.1001/jama.2008.901}, volume = {301}, year = {2009} }

TY - JOUR ID - citeulike:3871466 L3 - citeulike-article-id:3871466 N2 - This is the first in a series of 3 articles serving as an introduction to clinicians wishing to read and critically appraise genetic association studies. We summarize the key concepts in genetics that clinicians must understand to review these studies, including the structure of DNA, transcription and translation, patterns of inheritance, Hardy-Weinberg equilibrium, and linkage disequilibrium. We review the types of DNA variation, including single-nucleotide polymorphisms (SNPs), insertions, and deletions, and how these can affect protein function. We introduce the idea of genetic association for both single-candidate gene and genome-wide association studies, in which thousands of genetic variants are tested for association with disease. We use the APOE polymorphism and its association with dementia as a case study to demonstrate the concepts and introduce the terminology used in this field. The second and third articles will focus on issues of validity and applicability. IS - 1 JF - JAMA : the journal of the American Medical Association SN - 1538-3598 EP - 81 TI - How to use an article about genetic association: A: Background concepts. VL - 301 SP - 74 KW - bioinformatics KW - evidence AU - Attia, J AU - Ioannidis, JP AU - Thakkinstian, A AU - McEvoy, M AU - Scott, RJ AU - Minelli, C AU - Thompson, J AU - Infante-Rivard, C AU - Guyatt, G PY - 2009/01/07/ UR - http://dx.doi.org/10.1001/jama.2008.901 ER -