Fine-mapping of 5q12.1-13.3 unveils new genetic contributors to caries

Caries is a multifactorial disease and little is still known about the host genetic factors influencing susceptibility. Our previous genome-wide linkage scan has identified the interval 5q12.1–5q13.3 as linked to low caries susceptibility in Filipino families. Here we fine-mapped this region in order to identify genetic contributors to caries susceptibility. Four hundred and seventy-seven subjects from 72 pedigrees with similar cultural and behavioral habits and limited access to dental care living in the Philippines were studied. DMFT scores and genotype data of 75 single-nucleotide polymorphisms were evaluated in the Filipino families with the Family-Based Association Test. For replication purposes, a total 1,467 independent subjects from five different populations were analyzed in a case-control format. In the Filipino cohort, statistically significant and borderline associations were found between low caries experience and four genes spanning 13 million base pairs (PART1, ZSWIM6, CCNB1, and BTF3). We were able to replicate these results in some of the populations studied. We detected PART1 and BTF3 expression in whole saliva, and the expression of BTF3 was associated with caries experience. Our results suggest BTF3 may have a functional role in protecting against caries.Fil: Shimizu, T.. Nihon University of Dentistry; JapónFil: Deeley, K.. University of Pittsburgh; Estados UnidosFil: Briseño Ruiz, J.. University of Pittsburgh; Estados UnidosFil: Faraco Junior, I. M.. University of Pittsburgh; Estados UnidosFil: Poletta, Fernando Adrián. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Brancher, J. A.. Pontifical Catholic University of Paraná; BrasilFil: Pecharki, G. D.. Pontifical Catholic University of Paraná; BrasilFil: Küchler, E. C.. Universidade Federal Fluminense; BrasilFil: Tannure, P. N.. Universidade Federal do Rio de Janeiro; BrasilFil: Lips, A.. Universidade Federal do Rio de Janeiro; BrasilFil: Vieira, T. C. S.. Universidade Federal Fluminense; BrasilFil: Patir, A.. Istanbul Medipol Universit; TurquíaFil: Yildirim, M.. Istanbul University; TurquíaFil: Mereb, J. C.. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Resick, J. M.. University of Pittsburgh; Estados UnidosFil: Brandon, C. A.. University of Pittsburgh; Estados UnidosFil: Cooper, M. E.. University of Pittsburgh; Estados UnidosFil: Seymen, F.. Istanbul University; TurquíaFil: Costa, M. C.. Universidade Federal do Rio de Janeiro; BrasilFil: Granjeiro, J. M.. Universidade Federal Fluminense; BrasilFil: Trevilatto, P. C.. Pontifical Catholic University of Paraná; BrasilFil: Orioli, I. M.. Universidade Federal do Rio de Janeiro; Brasil. Centro de Educación Médica e Investigaciones Clínicas “Norberto Quirno”; ArgentinaFil: Castilla, Eduardo Enrique. Instituto Oswaldo Cruz; Brasil. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET.; ArgentinaFil: Marazita, M. L.. University of Pittsburgh; Estados UnidosFil: Vieira, A. R.. University of Pittsburgh; Estados Unido

Evolution of cuticular hydrocarbons in the hymenoptera : a meta-analysis

Chemical communication is the oldest form of communication, spreading across all organisms of life. In insects, cuticular hydrocarbons (CHC) function as the chemical recognition cues for the recognition of mates, species and nest-mates in social insects. Although much is known about the function of individual hydrocarbons and their biosynthesis, a phylogenetic overview is lacking. Here we review the CHC profiles of 241 species of hymenoptera, one of the largest and important insect orders, including the Symphyta (sawflies), the polyphyletic Parasitica (parasitoid wasps) and the Aculeata (wasps, bees and ants). We investigated whether these five major taxonomic groups differed in the presence and absence of CHC classes and whether the sociality of a species (solitarily vs. social) had an effect on CHC profile complexity. We found that the main CHC classes (i.e., n-alkanes, alkenes and methylalkanes) were all present early in the evolutionary history of the hymenoptera, as evidenced by their presence in ancient Symphyta and primitive Parasitica wasps. Throughout all groups within the Hymenoptera the more complex a CHC the fewer species that produce it, which may reflect the Occam's razor principle that insects’ only biosynthesize the most simple compound that fulfil its needs. Surprisingly there was no difference in the complexity of CHC profiles between social and solitary species, with some of the most complex CHC profiles belonging to the Parasitica. This profile complexity has been maintained in the ants, but some specialisation in biosynthetic pathways has led to a simplification of profiles in the aculeate wasps and bees. The absence of CHC classes in some taxa or species may be due to gene silencing or down-regulation rather than gene loss, as evidenced by sister species having highly divergent CHC profiles, and cannot be predicted by their phylogenetic history. The presence of highly complex CHC profiles prior to the vast radiation of the social hymenoptera indicates a 'spring-loaded' system where the diverse CHC needed for the complex communication systems of social insects, were already present for natural selection to act upon rather than evolve independently. This would greatly aid the multiple evolution of sociality in the Aculeata

Adaptation of the Quality of Life Adolescent Cleft Questionnaire for Spanish children and adolescents with cleft lip and/or palate

Background: The Quality of Life Adolescent Cleft Questionnaire is a measure of quality of life in cleft lip/palate (CL/P) including items on pre- treatment and post- treatment status. Items, however, were originally organized in a factor structure that prevents a formal pre- treatment to post- treatment comparison. Additionally, the questionnaire was tested in older patients.Aim: We aimed to explore a factor structure that allows a comparison of pre- to post- treatment status in children and adolescents with CL/P.Design: The sample comprised 60 children and adolescents with CL/P. The scale was divided into two groups of items (24 comparing pre- treatment and post- treatment sta-tus and 26 measuring current quality of life). Two different exploratory and confirm-atory analyses were conducted (one for each group of items). Sources of criterion validity were investigated with measures of self- esteem and self- efficacy.Results: The results supported a 6- factor structure for the pre- treatment and post- treatment items. In the second group of items, 9 items were removed due to inad-equate functioning and a final 4- factor solution was obtained. The criterion validity of factors was good.Conclusion: The proposed factor solution might be more useful to detect the per-ceived satisfaction in different areas and can be used in younger patients