Pui-Yan Kwok,
M.D., Ph.D.
Professor of Dermatology,
Henry Bachrach Distinguished Professor and Investigator
Cardiovascular Research Institute

Contact Information:
Pui.Kwok@ucsf.edu
Tel: 415-514-3802
Fax: 415-476-2956
Box 0793

Links:
CVRI

Publications

Analysis of Complex Genetic Traits

The overall goal of my research is to develop the tools for genetic analysis of whole genomes and to apply these tools to elucidate the genetic factors associated with common human diseases. We are actively involved in three areas of research. First, we are part of the International HapMap Consortium to construct linkage disequilibrium (haplotype) maps of the human genome. The Haplotype maps were published in October 2005 and are now available to all researchers to map genes involved in common human diseases. The paper on the Phase II HapMaps will be published in late 2007. Second, we are developing efficient genotyping and haplotyping methods for complex trait analysis. These methods, based on single molecule detection, will increase the speed and reduce the cost of large-scale association studies. Third, we are applying the genetic tools to search for genetic factors associated with complex human traits. On-going collaborative projects include studies of genetic susceptibility to psoriasis, atopy, narcolepsy, rheumatoid arthritis, systemic lupus erythematosus, hemorrhagic risk in brain arteriovenous malformations, and sudden cardiac arrest; identification of functional variants in genes that affect drug response; search for genetic determinants for longevity; prediction of kidney transplantation outcomes based on the genetic, proteomic, and expression patterns of the recipients and the grafts; and the elucidation of the structure-function relationship of collagen genes, especially in the context of osteogenesis imperfecta.

Selected publications (in the last 5 years)

Helms, C, Cao, L, Krueger, JG, Wijsman, EM, Chamian, F, Gordon, D, Daw, J, Robarge, J, Ott, J, Kwok, P-Y, Menter, A, and Bowcock, AM. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with psoriasis susceptibility. Nature Genetics 2003; 35:349-456.

The International HapMap Consortium. The International HapMap Project. Nature 2003; 426:789-796.

Reiner, AP, Ziv, E, Lind, DL, Nievergelt, CM, Schork NJ, Cummings, SR, Phong, A, Burchard, E, Harris, TB, Psaty, BM, and Kwok, P-Y. Population structure, admixture, and aging-related phenotypes in African-American
adults: the Cardiovascular Health Study. Am. J. Hum. Genet. 2005, 76:463-477.

The International HapMap Consortium, A haplotype map of the human genome. Nature 2005; 437:1299-1320.

Freimuth, RR, Xiao, M, Sharon Marsh, S, Minton, M, Addleman, N, Van Booven, DJ, Howard L. McLeod, HL, and Kwok, PY. Polymorphism discovery in 51 chemotherapy pathway genes, Hum. Mol. Genet. 2005; 14:3595-3603.

Xiao, M, Phong, A, Ha, C, Chan, TF, Cai, D, Wan, E, Leung, L, Kistle, A, DeRisi, JL, Selvin, P, Kwok, P-Y. Rapid DNA Mapping by fluorescent single molecule detection. Nucleic Acids Res. 2007; 35:e16.

Reich, D, Patterson, N, Ramesh, V, De Jager, PL, McDonald, GJ, Tandon, A, Choy, E, Hu, D, Tamraz, B, Pawlikowska, L, Wassel-Fyr, C, Huntsman, S, Waliszewska1, A, Rossin, E, Li, R, Garcia, M, Reiner, A, Ferrell, R, Cummings, S, Kwok, PY, Harris, T, Zmuda, JM, Ziv, E. Admixture mapping of an allele affecting soluble IL6 receptor and IL6 levels. Am. J. Hum. Genet. 2007; 80:716-726.

Xiao, M, Gordon, MP, Phong, A, Ha, C, Chan, TF, Cai, D, Selvin, PR, Kwok, PY. Determination of haplotypes from single DNA molecules: a method for single molecule barcoding. Human Mutation, 2007; 28:913-921.