ArticlePloS one2024
Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.
Article in PloS one, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
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 neural tube closure (PSMB4, ATIC, DKK2, PSEN2, C2CD3, and PLCB2), showing differences in risk allele transmission between affected and unaffected siblings. Bayesian analysis identified changes in the risk profile after initiating folic acid fortification in Mexico, showing an evident decline in the conditional risk from 1/156 to 1/304 respectively. Despite the decline, this represents a 5.84-fold increase in risk before fortification and a 2.99-fold increase post-fortification compared to the baseline risk level (1/910). Our study highlights the advantage of incorporating a Bayesian analytical methodology in families with discordant sib-pairs, offering insights into the polygenic risk estimate for MMC and, most probably, for other congenital malformations.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.