Reproductive Epidemiology

Genetic Factors for Breast Cancer - A Genome-wide Study 
PI:   Zheng, Wei      Funding Agency: NCI      Grant No.:  R01 CA124558 
Description:   Genetic factors play an important role in the etiology of breast cancer.  With recent significant advances in high-throughput genotyping technologies, it has become feasible to conduct genome-wide association studies (GWAS) to systematically evaluate genetic risk factors for breast cancer. We initiated a pilot study in 2005 providing the proof-of-principle evidence that novel genetic risk variants for breast cancer can be identified in GWAS. This full-scale study, the first GWAS of breast cancer conducted in non-European descendants, initiated in 2008, uses resources of multiple studies. The results from the study will improve the understanding of breast cancer biology and genetics and could potentially be used to identify women at high risk for breast cancer.

Shanghai Women's Health Study (SWHS) 
PI: Zheng, Wei       Funding Agency:   NCI          Grant No.:  UM1 CA182910 
Description: This population-based prospective cohort study was initiated in 1996. From 1996 to 2000, approximately 75,000 Chinese women living in Shanghai were recruited into the study. In addition to survey data, most study participants donated blood (75%) and urine (87%) samples at baseline. Approximately 50% of study participants who did not donate a blood sample provided a sample of exfoliated buccal cells. This cohort of women is being followed for incidence of site-specific cancers and cause-specific mortality through a combination of in-person surveys and record linkages with population-based registries. Four in-person follow-up surveys have been completed, each with a response rate greater than 90%. The resources from this study have supported multiple studies, including approximately 40 international research consortia, to address etiologic hypotheses for cancers and other chronic diseases. The SWHS, with its large sample size, wealth of resources, and unique exposure patterns and disease spectrum, provides exceptional opportunities to address many significant hypotheses that cannot be adequately investigated in other existing cohorts.

Understanding the genetic risk underlying racial disparities in uterine fibroids 
PI: Velez Edwards, Digna R       Funding Agency:   NICHD      Grant No. R01 HD074711 
Description: Fibroids affect 77% of women by onset of menopause in the U.S. and account for $9.4 billion in yearly healthcare costs. Until recently, tumor tissue and cell culture studies investigating fibroid growth have been the primary sources for understanding fibroid pathophysiology. In study we propose to identify genetic markers for risk of fibroids through a GWAS of African American and Caucasian participants, leveraging ancestral differences to narrow down genomic regions for targeted follow-up analyses. We will utilize BioVU, an electronic medical records database linked to DNA. Our first Aim is to conduct a GWAS for association between common SNPs and fibroid risk. Secondary admixture mapping analyses will be performed to identify chromosomal regions to prioritize for replication. Finally, in Aim 3 we will replicate SNPs associations in independent samples. This study represents the largest GWAS of fibroids and first among African Americans and leverages emerging technologies and new statistical approaches.