Abstract

Individuals with clefts present considerably more dental anomalies than individuals without clefts. We also have shown that these individuals report cancer in their families more often than do unaffected individuals. We investigated how these conditions correlated with genetic variants associated with clefts to ascertain if specific molecular signatures exist that could help identify individuals at risk for having offspring with these defects. We examined 573 individuals, 158 with clefts, 254 unaffected family members, and 161 non-related controls. Several clinical features, such as laterality, the presence of dental anomalies, medical history, and pregnancy history, were used to assess each individual's cleft status. Then, we performed molecular studies with genes that have been independently associated with oral clefts. We analyzed two datasets: nuclear families and case-control individuals where the case was the child from the family and controls were unrelated non-clefted individuals. In the family data, we confirmed association between clefts and rs987525 on chromosome 8 (p = 0.007) and found an association with rs987525 and tooth agenesis (p = 0.0003). In the case-control data, clefts, supernumerary teeth and familial cancer history were associated with ABCA4-rs481931 on chromosome 1 (p = 2E-19, 0.0007, 2E-06, respectively), and clefts and microdontia were associated with rs1325474 on chromosome 6 (p = 1E-06, 0.0002, respectively).

Links

Publisher Full Text

Authors

Yildirim M, Seymen F, Deeley K, Cooper ME, Vieira AR

Institution

Department of Pedodontics, Istanbul University, Istanbul, Turkey.

Source

Journal of dental research 91:6 2012 Jun pg 556-61

MeSH

Adolescent
Adult
Case-Control Studies
Chi-Square Distribution
Child
Child, Preschool
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 8
Cleft Lip
Cleft Palate
Family Health
Female
Genetic Markers
Genome-Wide Association Study
Humans
Linkage Disequilibrium
Logistic Models
Male
Medical History Taking
Middle Aged
Neoplasms
Polymorphism, Single Nucleotide
Pregnancy
Prenatal Exposure Delayed Effects
Risk Factors
Smoking
Tooth Abnormalities
Young Adult

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22496123