Machine learning approaches for phenotype-genotype mapping: Predicting heterozygous mutations in the CYP21B gene from steroid profiles

European Journal of Endocrinology

Volumn 153, Issue 2, 2005, Pages 301-305

  Prank, Klaus ^a,c   Schulze, Egbert ^b   Eckert, Olaf ^c   Nattkemper, Tim W ^a,c   Bettendorf, Markus ^d   Maser Gluth, Christiane ^d   Sejnowski, Terrence J ^e   Grote, Arno ^c   Penner, Erika ^a,c   von zur Mühlen, Alexander ^c   Brabant, Georg ^c  

^a BIELEFELD UNIVERSITY   (Germany)

^b Laboratory of Molecular Genetics Raue   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 21B; STEROID; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ARTIFICIAL NEURAL NETWORK; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; GENE MAPPING; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PERFORMANCE; PREDICTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; STATISTICAL MODEL; STEROID BLOOD LEVEL;

ADULT; ARTIFICIAL INTELLIGENCE; CHROMOSOME MAPPING; GENOTYPE; HETEROZYGOTE; HUMANS; LINEAR MODELS; MIDDLE AGED; MODELS, GENETIC; MUTATION; NONLINEAR DYNAMICS; PHENOTYPE; PREDICTIVE VALUE OF TESTS; STEROID 21-HYDROXYLASE; STEROIDS;

EID: 23844496460     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.1.01957     Document Type: Article

References (30)

1. Speiser PW & White PC. Congenital adrenal hyperplasia. New England Journal of Medicine 2003 21 776-788.
2. Kozower M, Veatch L & Kaplan MM. Decreased clearance of prednisolone, a factor in the development of corticosteroid side effects. Journal of Clinical Endocrinology and Metabolism 1974 38 407-412.
3. Moreira AC & Elias LL. Pituitary-adrenal responses to corticotropin-releasing hormone in different degrees of adrenal 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism 1992 74 198-203.
4. New MI. 21-Hydroxylase deficiency congenital adrenal hyperplasia. Journal of Steroid Biochemistry and Molecular Biology 1994 48 15-22.
5. Fiet J, Villette JM, Galons H, Boudou P, Burthier JM, Hardy N, Soliman H, Julien R, Vexiau P, Gourmelen M & Kuttenn F. The application of a new highly-sensitive radioimmunoassay for plasma 21-deoxycortisol to the detection of steroid-21-hydroxylase deficiency. Annals of Clinical Biochemistry 1994 31 56-64.
6. Blanche H, Vexiau P, Clauin S, Le Gall I, Fiet J, Mornet E, Dausset J & Bellanne-Chantelot C. Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women. Human Genetics 1997 101 56-60.
7. Grunwald K, Rabe T, Urbancsek J, Runnebaum B & Vecsei P. Normal values for a short time ACTH intravenous and intramuscular stimulation test in women in the reproductive age. Gynecological Endocrinology 1990 4 287-306.
8. Schulze E, Scharer G, Rogatzki A, Priebe L, Lewicka S, Bettendorf M, Hoepffner W, Heinrich UE & Schwabe U. Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase. Endocrine Research 1995 21 359-364.
9. Schulze E, Bettendorf M, Maser-Gluth C, Decker M & Schwabe U. Allele dropout using PCR-based diagnosis for the splicing mutation in intron 2 of the CYP21B gene: successful amplification with a TAQ/POW polymerase mixture. Endocrine Research 1998 24 637-641.
10. Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F & White PC. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Human Molecular Genetics 1996 5 2039-2048.
11. Azziz R. Detection of CAH heterozygotes. Fertility and Sterility 1997 68 183-184.
12. Cover TM & Hart PE. Nearest neighbour pattern classification. IEEE Transactions on Information Theory 1967 13 21-27.
13. Bishop CM. Neural Networks for Pattern Recognition. Oxford, UK: Clarendon Press, 1995.
14. Tarassenko L. A Guide to Neural Computing Applications. London: Arnold, 1998.
15. Martinetz TM, Berkovich SG & Schulten KJ. 'Neural-gas' network for vector quantization and its application to timeseries prediction. IEEE Transactions on Neural Networks 1993 4 558-569.
16. Martinetz TM & Schulten KJ. Topology representing networks. Neural Networks 1994 7 507-522.
17. Kohonen T. Self-organized formation of topographically correct feature maps. Biological Cybernetics 1982 43 59-69.
18. Kohonen T. Analysis of a simple self-organizing process. Biological Cybernetics 1982 44 135-140.
19. Schoelkopf B, Smola AJ & Mueller K-R. Kernel principal component analysis. In Advances in Kernel Methods - SV Learning, pp 327-352. Eds B Schoelkopf, CJC Burges & AJ Smola. Cambridge, MA: MIT Press, 1999.
20. Mika S, Raetsch G, Weston J, Schoelkopf B & Mueller K-R. Fisher discriminant analysis with kernels. In Neural Networks for Signal Processing IX, IEEE, pp 41-48. Eds Y-H Hu, J Larsen, E Wilson & S Douglas. New York: IEEE, 1999.
21. Vapnik V. The Nature of Statistical Learning Theory. Berlin: Springer, 1995.
22. Platt J. Fast training of support vector machines using sequential minimal optimization. In Advances in Kernel Methods - Support Vector Learning, B Schoelkopf, C Burges & A Smola. Cambridge, MA: MIT Press, 1998.
23. Keerthi SS, Shevade SK, Bhattacharyya C & Murthy KRK. Improvements to Platt's SMO Algorithm for SVM Classifier Design. Technical report TR CD-99-14, National University of Singapore, 1999.
24. Cross SS, Harrison RF & Kennedy RL. Introduction to neural networks. Lancet 1995 346 1075-1079.
25. Baxt WG. Application of artificial neural networks to clinical medicine. Lancet 1995 346 1135-1138.
26. Baxt WG & Skora J. Prospective validation of artificial neural network trained to identify acute myocardial infarction. Lancet 1996 347 12-15.
27. Martinerie J, Adam C, Le Van Quyen M, Baulac M, Clemenceau S, Renault B & Varela FJ. Epileptic seizures can be anticipated by non-linear analysis. Nature Medicine 1998 4 1173-1176.
28. Wilson RC, Mercado AB, Cheng KC & New MI. Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. Journal of Clinical Endocrinology and Metabolism 1995 80 2322-2329.
29. Khan J, Wei JS, Ringner M, Saal LH, Ladanyi M, Westermann F, Berthold F, Schwab M, Antonescu CR, Peterson C & Meltzer PS. Classification and diagnostic prediction of cancers using gene-expression profiling and artificial neural networks. Nature Medicine 2001 7 673-679.
30. Dhanasekaran SM, Barrette TR, Ghosh D, Shah R, Varambally S, Kurachi K, Pienta KJ, Rubin MA & Chinnaiyan AM. Delineation of prognostic biomarkers in prostate cancer. Nature 2001 412 822-826.