Abstract
Caries is the most commonly encountered chronic multifactorial disease in the world, though little is known about genetic factors influencing susceptibility. Our previous genome-wide linkage scan identified 5 loci related to caries susceptibility ; 5q13.3, 13 q 31.1, 14q11.2, 14q24.3, and Xq27. In the present study, fine mapping of the 5q13.3 locus was reviewed. Using single nucleotide polymorphism (SNP) genotyping, 477 subjects from 72 pedigrees with similar cultural and behavioral habits living in the Philippines were studied. For replication purposes, a total of 1464 independent subjects from 5 different populations were analyzed based on their caries experience. Statistically significant associations were found between caries experience and 3 genes spanning 5q13.3, and those results were replicated in some of the populations studied. In addition, SNP markers were genotyped in selected genes that influence enamel formation in the same populations. The most expressive association between caries and genotypes was for a marker in AMELX. Our results suggest that genes in 5q13.3 and AMELX may be related to caries susceptibility.
