BBB Collaborative Research: Genetic Risk Factors for Birth Defects

BBB collaborates with the Birth Defects Research Group in the Epidemiology Branch (EB), investigating genetic and other risk factors for neural tube defects (e.g., genetic risk factors related to folate and vitamin B12), and genetic factors related to risk for cleft lip and cleft palate.

Because low folate status is an important risk factor for neural tube defects, the group conducted the Trinity Student Study, a quantitative traits genome-wide association study to look for genetic variants associated with low folate status in 2,500 students at Trinity College in Dublin, Ireland. The data from this study are being analyzed to identify variants that will be tested for association with neural tube defects.

Principal Investigators

BBB: Aiyu Liu, Ph.D.
EB: James Mills, M.S., M.D.

Selected Publications

Boghossian, N. S., Sicko, R. J., Giannakou, A., Dimopoulos, A., Caggana, M., Tsai, M. Y., Yeung, E. H., ... Mills, J. L. (2018). Rare copy number variants identified in prune belly syndrome. European Journal of Medical Genetics, 61(3), 145-151. PMID: 29174092. PMCID: PMC5803418

Carter, T. C., Sicko, R. J., Kay, D. M., Browne, M. L., Romitti, P. A., Edmunds, Z. L., Liu, A., ... Mills, J. L. (2017). Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. Journal of Human Genetics, 62(10), 877-884. PMID: 28539665. PMCID: PMC5612852

Boghossian, N. S., Sicko, R. J., Kay, D. M., Rigler, S. L., Caggana, M., Tsai, M. Y., Yeung, E. H., Pankratz, N., Cole, B. R., Druschel, C. M., Romitti, P. A., Browne, M. L., Fan, R., Liu, A., Brody, L. C., & Mills, J. L. (2016). Rare copy number variants implicated in posterior urethral valves. American Journal of Medical Genetics. Part A, 170(3), 622–633. PMID: 26663319. PMCID: PMC6205289

Rigler, S. L., Kay, D. M., Sicko, R. J., Fan, R., Liu, A., Caggana, M., Browne, M. L., Druschel, C. M., Romitti, P. A., Brody, L. C., & Mills, J. L. (2015). Novel copy-number variants in a population-based investigation of classic heterotaxy. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 17(5), 348–357. PMID: 25232849. PMCID: PMC5901701

Carter, T. C., Kay, D. M., Browne, M. L., Liu, A., Romitti, P. A., Kuehn, D., Conley, M. R., Caggana, M., Druschel, C. M., Brody, L. C., & Mills, J. L. (2013). Anorectal atresia and variants at predicted regulatory sites in candidate genes. Annals of Human Genetics, 77(1), 31–46. PMID: 23127126. PMCID: PMC3535506

Carter, T. C., Kay, D. M., Browne, M. L., Liu, A., Romitti, P. A., Kuehn, D., Conley, M. R., Caggana, M., Druschel, C. M., Brody, L. C., & Mills, J. L. (2012). Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation. Journal of Human Genetics, 57(8), 485–493. PMID: 22648184. PMCID: PMC3503526

Browne, M. L., Carter, T. C., Kay, D. M., Kuehn, D., Brody, L. C., Romitti, P. A., Liu, A., Caggana, M., Druschel, C. M., & Mills, J. L. (2012). Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies. American Journal of Medical Genetics. Part A, 158A(10), 2463–2472. PMID: 22965740. PMCID: PMC3448837

Mills, J. L., Carter, T. C., Kay, D. M., Browne, M. L., Brody, L. C., Liu, A., Romitti, P. A., Caggana, M., & Druschel, C. M. (2012). Folate and vitamin B12-related genes and risk for omphalocele. Human Genetics, 131(5), 739–746. PMID: 22116453. PMCID: PMC3374579

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