Publications by authors named "A O Wilkie"
Background: While the association between fine particulate matter (PM) and adult mortality is well established, few studies have examined the association between long-term PM exposure and infant mortality.
Methods: We conducted an unmatched case-control study of 5992 infant mortality cases and 60,000 randomly selected controls from a North Carolina birth cohort (2003-2015). PM during critical exposure periods (trimesters, pregnancy, first month alive) was estimated using residential address and a national spatiotemporal model at census block centroid.
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.
Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.
Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.
Article Synopsis
- The study aimed to find the genetic cause of a rare skeletal Class II malocclusion with gingival hyperplasia in a family over four generations.
- SNP and exome sequencing identified regions on chromosomes 1, 17, and 19 but were inconclusive, leading to further genome sequencing that revealed a complex rearrangement on chromosome 17 involving portions from chromosome 1.
- This rearrangement is linked to misregulated genes KCNJ2/KCNJ16, suggesting a genetic basis for the observed phenotype and expanding the understanding of conditions associated with the KCNJ2-SOX9 locus.
Background: Coal-fired power plants are major contributors of ambient sulfur dioxide (SO) air pollution. Epidemiological literature suggests an adverse association between SO exposure during gestation and preterm birth (PTB; <37 weeks completed gestation). PTB is strongly associated with infant mortality and increased risk for later life morbidities.
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