Statistical methods in collaborative research

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One focus of this project is on developing statistical methods for genetic and epidemiology studies. Working with Drs. Nodzenski, Weinberg and Umbach, we have extended the previously published method GADGETS, a genetic-algorithm-based method to identify genetic epistatic effects using data from case-parent triads, to studies of environment-epistasis interaction, maternal genetic effects and fetal-maternal interaction effects. The work with Dr. Weinberg focusing on assessing the performance of beta-geometric models in time-to-pregnancy studies was published in Epidemiology in 2023. In a project working with Drs. Weinberg and Umbach we are developing a method for pooled sample analysis using a case-cohort study design and our simulation studies have shown that pooling up to 8 samples only caused modest loss of power. We are also extending the method to assessment of exposure quantile effects using pooled samples from a case-cohort or case-control study. I actively participate in several applied studies collaborating with multiple researchers in BCBB branch. Collaborating with Dr. Lis group we are analyzing the sleep data collected through UNC Sleep Center. In the paper published in BMJ Open Respiratory Research, we studied the characteristics of and relationship between sleep apnea and hypoventilation in patients with muscular dystrophy. We are performing analysis to assess the sex difference in sleep apnea and its trend with age and the relationship between depression and sleep apnea. Working with Dr. Diaz Santanas group we are using data from the Sister Study to validate two popular breast cancer risk prediction models, BOADICEA and Gail models. In a project led by Drs. Holle and Park, we performed a GWAS analysis of 5 carotenoid phenotypes and identified an association between a common SNP and lutein and zeaxanthin levels. I also collaborate extensively with intramural investigators from other branches as well as extramural investigators. The research of Dr Rider from CRU focuses on autoimmune diseases, in particular, dermatomyositis, a rare inflammatory autoimmune disease. I work closely with Dr. Riders group on several projects. We are finishing up writing a paper describing the GWAS study of calcinosis in myositis patients. In another project we evaluated the association between extended HLA haplotypes and rare muscle variants and myositis. Using data from the Twin-Sib study we found an association between systemic rheumatic diseases and life events in the years prior to their diagnosis. I am also working with Dr. Rider to write a clinical trial proposal which focuses on the effects of Omega3 fatty acid supplementation on dermatomyositis. In a collaborative work with Huiling Li from Dr. Londons lab we are preparing a manuscript describing the impact on pulmonary functions in Adam19 deficient mice. Working Dr. Fesslers group we identified race-specific association of IRGM risk alleles with cytokine expression in human subjects.