Single nucleotide polymorphisms (SNPs) in routine diagnosis: Technical and diagnostic recommendations;Kriterien für den einsatz von einzelnukleotidpolymorphismen (SNPs) in der medizinischen routinediagnostik: Erarbeitung technischer und diagnostischer empfehlungen

LaboratoriumsMedizin

Volumn 30, Issue 3, 2006, Pages 142-151

  Klein, Hanns Georg ^a   Funke, Harald ^b   Neumaier, Michael ^c   Langmann, Thomas ^d   Knabbe, Cornelius ^e   Cullen, Paul ^f  

^a Zentrum fur Humangenetik und Laboratoriumsmedizin Dr Klein und Dr Rost   (Germany)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^e ROBERT BOSCH HOSPITAL   (Germany)

^f NONE

Author keywords

Diagnostic application; Genetic variation; Guidelines; Medical indication; Quality criteria; Single nucleotide polymorphism; SNP

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; FLUOROURACIL; HFE PROTEIN;

ARTICLE; CANCER; CASE CONTROL STUDY; CONFIDENCE INTERVAL; DEEP VEIN THROMBOSIS; DIABETES MELLITUS; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DISEASE MARKER; EVIDENCE BASED MEDICINE; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; HEMOCHROMATOSIS; HUMAN; HUMAN GENOME PROJECT; HYPERTENSION; MARKER GENE; POPULATION RESEARCH; PREVENTIVE MEDICINE; PUBLISHING; QUALITY CONTROL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 33746570112     PISSN: 03423026     EISSN: 14390477     Source Type: Journal    
DOI: 10.1515/JLM.2006.024     Document Type: Article

References (16)

1. MedGen 2004;16:115-7.
2. MedGen 2004;16:282-346.
3. Funke H, Assmann G. Strategies for the assessment of genetic coronary artery disease risk. Current Opinion in Lipidology 1999;10:285-91.
4. Emmerich J, Rosendaal FR, Cattaneo M, Margaglione M, De Stefano V, Cumming T, et al. Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism - pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. Thromb Haemost 2001;86:809-16.
5. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 2005;102:7227-32.
6. Bernard S, Neville KA, Nguyen AT, Flockhart DA. Interethnic differences in genetic polymorphisms of CYP2D6 in the U.S. population: clinical implications. Oncologist 2006; 11:126-35.
7. Ye Z, Liu EH, Higgins JP, Keavney BD, Lowe GD, Collins R, et al. Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls. Lancet 2006;367:651-8.
8. Powell LW, Dixon JL, Ramm GA, Purdie DM, Lincoln DJ, Anderson GJ, et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med 2006;166:294-301.
9. Yamada Y, Izawa H, Ichihara S, Takatsu F, Ishihara H, Hirayama H, et al. Prediction of the risk of myocardial infarction from polymorphisms in candidate genes. N Engl J Med 2002;347:1916-23.
10. Humphries SE, Ridker PM, Talmud PJ. Genetic testing for cardiovascular disease susceptibility: a useful clinical management tool or possible misinformation? Arterioscler Thromb Vasc Biol 2004;24:628-36.
11. http://ec.europa.eu/research/conferences/2004/genetic/recommendations_en. htm
12. Freely associating. Nat Genet 1999;22:1-2.
13. Bärlocher F. Biostatistik. Stuttgart, New York: Thieme Verlag, 1999.
14. Ioannidis JP, Gwinn M, Little J, Higgins JP, Bernstein JL, Boffetta P, et al. A road map for efficient and reliable human genome epidemiology. Nat Genet 2006;38:3-5.
15. Funke H, Cullen O, Gessner R, Klein H-G, Knabbe C, Langmann T, Neumaier M. Multiparametrische Gendiagnostik in der Medizin: Erarbeitung gemeinsamer Standards. J Lab Med 2003;27:131-6.
16. Neumaier M, Funke H. Ethik und Qualitätsmanagement genetischer Untersuchungen. Klinikarzt 2005;34:66-70.