Shoko Miyagawa, Ritsuko Hattori, Kanetoshi Hattori
A Simulation Model of Escapable and Non-Escapable Areas from Which Pregnant Women Can Reach Tsunami Evacuation Buildings: The Case in 110 Elementary School Districts in Nagoya City, Aichi, Japan
Disaster medicine and public health preparedness
runtrelated transcription factor runx2 plays critical role osteoblast differentiation alterations gene dosage cause distinct craniofacial anomalies uniquely amongst runtrelated family vertebrate runx2 encodes polyglutaminepolyalanine repeat gln23gluala17 humans length polyalanine component completely conserved great apes surprisingly frequent 6amino acid deletion polymorphism pala84ala89del occurs humans termed 11a allele previous association study cuellar et al bone 1371153952020 reported 11a variant significantly frequent nonsyndromic sagittal craniosynostosis nssag allele frequency af 0156 95 confidence interval ci 01260189 compared nonsyndromic metopic craniosynostosis nsmet af 0068 95 ci 00450098 however gnomad v211 control population used cuellar et al display hardyweinberg equilibrium hampering interpretation reexamine association genotyped runx2 11a polymorphism 225 individuals sporadic nssag parentchild trios 164 singletons sporadic nsmet restricting analysis individuals european ancestry compared observed allele frequencies nontransmitted alleles parentchild trios genome sequencing data gnomad v4 display hardyweinberg equilibrium observed afs 95 ci 0076 00530104 nssag 0082 00550118 nsmet compared 0062 00420089 nontransmitted parental alleles 0065 00630067 gnomad v400 nonfinnish european control genomes summary observed nonsignificant excess compared gnomad data 11a alleles nssag relative risk 118 95 ci 083167 nsmet relative risk 129 95 ci 087192 replicate much higher excess runx2 11a alleles nssag previously reported p 00001