Genetic variation of FOXE1 and risk for orofacial clefts in a California population.
We investigated whether orofacial clefts are associated with polymorphic variation within and around FOXE1. This California population-based case control study focused on white Hispanic and white nonHispanic infants among which there were 262 infants with cleft lip with or without cleft palate (CL/P), 103 with cleft palate only (CPO), and 382 unaffected controls. These cases and controls were genotyped for 13 SNPs across 220 Kb at the FOXE1 Locus. We observed associations with multiple FOXE1 SNPs for CL/P and for CPO, especially for the Hispanic study population. Increased risks were associated with the more common allele for all SNPs tested. Our results implicate FOXE1 as an important locus whose polymorphic variation increases risks for all types of isolated clefts, and opens a new biological pathway to investigate in efforts to understand genetic factors underlying human clefting. © 2016 Wiley Periodicals, Inc.
Children's Hospital Oakland Research Institute, Oakland, California.
Edward J
EJ
Lammer
Children's Hospital Oakland Research Institute, Oakland, California.
Nebil
N
Mohammed
Children's Hospital Oakland Research Institute, Oakland, California.
David M
DM
Iovannisci
Department of Pediatrics, Stanford University, Stanford, California.
Chen
C
Ma
Department of Orthodontics, School of Dentistry, Universit of Iowa, Iowa City, Iowa.
Andrew C
AC
Lidral
Department of Pediatrics, Stanford University, Stanford, California. gmshaw@stanford.edu.
Gary M
GM
Shaw
D000483:Alleles; D002140:California / Q000453:epidemiology / Q000208:ethnology; D016022:Case-Control Studies; D002971:Cleft Lip / Q000453:epidemiology* / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology* / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011159:Population Surveillance; D012306:Risk
C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors
case-control; cleft lip; cleft palate; congenital abnormalities; etiologies; genetic