Publications by authors named "T H Beaty"
Maternal exposures are known to influence the risk of isolated cleft lip with or without cleft palate (CL/P) - a common and highly heritable birth defect with a multifactorial etiology. To identify new CL/P risk loci, we conducted a genome-wide gene-environment interaction (GEI) analysis of CL/P on a sample of 540 cases and 260 controls recruited from the Philippines, incorporating the interaction effects of genetic variants with maternal smoking and vitamin use. As GEI analyses are typically low in power and the results can be difficult to interpret, we used multiple testing frameworks to evaluate potential GEI effects: 1 degree-of-freedom (1df) GxE test, the 3df joint test, and the two-step EDGE approach.
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- Family-based studies can reveal genetic risks for diseases, taking into account factors like population structure and parental genetics.
- A new framework called PGS-TRI is developed to analyze polygenic scores in case-parent trio studies, allowing for assessment of risk from inherited scores, parental influences, and environmental interactions.
- PGS-TRI has been tested in multi-ancestry studies on autism and orofacial clefts, providing new insights into gene-environment interactions and the genetic influences on these conditions.
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- * A lung biopsy revealed organizing pneumonia, and despite aggressive treatment with various therapies, his condition did not improve.
- * After 85 days in the hospital, he passed away, emphasizing that severe cases of pediatric COVID-19, while rare in Hawai'i, can still occur and be fatal.
Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural birth defects and are often divided into cleft lip with or without cleft palate (CL/P) and cleft palate only (CP). Previous studies have found sex-specific risks for CL/P, but these risks have yet to be evaluated in CP.
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- Asthma shows significant differences in prevalence and characteristics among various ancestral groups, yet the reasons for these disparities are not well understood.
- The Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) is analyzing genetic information from individuals of African ancestry to identify specific genes related to asthma.
- In their findings, they discovered 389 differentially expressed genes (DEGs), with key networks linked to immune response and wound healing, revealing three main areas of dysregulation important for understanding asthma within these populations.