Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.

ABSTRACT: Myelomeningocele (MMC) is the most severe and disabling form of spina bifida with chronic health multisystem complications and social and economic family and health systems burden. In the present study, we aimed to investigate the genetic risk estimate for MMC in a cohort of 203 Mexican nuclear families with discordant siblings for the defect. Utilizing a custom Illumina array, we analyzed 656 single nucleotide polymorphisms (SNPs) of 395 candidate genes to identify a polygenic risk profile for MMC. Through a family-based analysis employing the transmission disequilibrium test (TDT) and Bayesian analysis, we assessed risk alleles transmission and calculated conditional probabilities estimating a polygenic risk for MMC. Our findings reveal significant associations of six genes related to ne

SUBMITTER: Aguayo-Gomez A 

PROVIDER: S-EPMC11684611 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature