Deborah Nickerson
Professor of Genome Sciences
Adjunct Professor of Bioengineering

One of the most challenging problems in biology and medicine is defining the relationship between genotype and phenotype. The development and application of genetic linkage mapping has lead to the identification of candidate genes for hundreds of rare human diseases revealing simple inheritance patterns. Although linkage has been successfully applied to mapping rare human diseases, whole genome scans for linkage to common human diseases such as cardiovascular disease, hypertension, and asthma, have yielded less favorable results. Many of these diseases arise from the interaction of multiple genes combined with environmental modifiers. Thus, the relative risk of any given effect is small making association analysis more practical as a method for exploring disease susceptibility/resistance in humans.

For more than a decade, my group has been interested in the identification and typing of common sequence variations in the human genome known as single nucleotide polymorphisms (SNPs) in an effort to gain an understanding of the patterns of sequence variation in human genome and to improve approaches for association mapping of common human diseases. In collaboration with a number of groups, we are exploring the genetics of cardiovascular disease risk in human populations. We are also developing and testing novel SNP and haplotype-based approaches for association mapping in humans, and we are exploring the relationships that may exist between genotype and trait expression at the RNA and protein levels in humans.

Publications:

Howie BN, Carlson CS, Rieder MJ, Nickerson DA. Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet. 2006 Aug;120(1):58-68. Epub 2006 May 6.
PMID: 16680432 [PubMed - in process]

Stephens M, Sloan JS, Robertson PD, Scheet P, Nickerson DA. Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet. 2006 Mar;38(3):375-81. Epub 2006 Feb 19.
PMID: 16493422 [PubMed - indexed for MEDLINE]

Reiner AP, Carty CL, Carlson CS, Wan JY, Rieder MJ, Smith JD, Rice K, Fornage M, Jaquish CE, Williams OD, Tracy RP, Lewis CE, Siscovick DS, Boerwinkle E, Nickerson DA. Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels: the Coronary Artery Risk Development in Young Adults (CARDIA) study. J Thromb Haemost. 2006 Jun;4(6):1279-87.
PMID: 16706972 [PubMed - in process]

Carlson CS, Thomas DJ, Eberle MA, Swanson JE, Livingston RJ, Rieder MJ, Nickerson DA. Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res. 2005 Nov;15(11):1553-65.
PMID: 16251465 [PubMed - indexed for MEDLINE]

Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, Blough DK, Thummel KE, Veenstra DL, Rettie AE. Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med. 2005 Jun 2;352(22):2285-93.
PMID: 15930419 [PubMed - indexed for MEDLINE]

Bhangale TR, Rieder MJ, Livingston RJ, Nickerson DA. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet. 2005 Jan 1;14(1):59-69. Epub 2004 Nov 3.
PMID: 15525656 [PubMed - indexed for MEDLINE]

Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet. 2004 Jan;74(1):106-20. Epub 2003 Dec 15.
PMID: 14681826 [PubMed - indexed for MEDLINE]

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