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We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European ancestry. We also tested the association of previously identified risk variants, for timing of tooth eruption and orofacial clefts, with TA. We report associations between TA and 9 novel risk variants. Five of these variants associate with selective TA, including a variant conferring risk of orofacial clefts. These results contribute to a deeper understanding of the genetic architecture of tooth development and disease. The few variants previously associated with TA were uncovered through candidate gene studies guided by mouse knockouts. Knowing the etiology and clinical features of TA is important for planning oral rehabilitation that often involves an interdisciplinary approach.

The aim of the present study was to describe the craniofacial changes between 6 and 16 years of age in a sample of Icelandic children. Complete sets of lateral cephalometric radiographs were available from 95 males and 87 females. Twenty-two reference points were digitized and processed by standard methods, using the Dentofacial Planner computer software program. Thirty-three angular and linear variables were calculated, including: basal sagittal and vertical measurements, facial ratio, and dental, cranial base and mandibular measurements. For the angular measurements, gender differences were not statistically different for any of the measurements, in either age group, except for the variable s-n-na, which was larger in the 16-year-old boys (P < or = 0.001). Linear variables were consistently larger in the boys compared with the girls at both age levels. During the observation period mandibular prognathism increased but the basal sagittal jaw relationship, the jaw angle, the mandibular plane angle and cranial base flexure (n-s-ba) decreased in both genders (P < or = 0.001). Maxillary prognathism increased only in the boys from 6 to 16 years. Inclination of the lower incisors and all the cranial base dimensions increased in both genders during the observation period. When the Icelandic sample was compared with a similar Norwegian sample, small differences could be noted in the maxillary prognathism, mandibular plane angle and in the inclination of the maxilla. Larger differences were identified in the inclination of the lower incisors. These findings could be used as normative cephalometric standards for 6- and 16-year-old Icelandic children.

The purpose of the study was to describe the craniofacial characteristics of 6-year-old Icelandic children, make a normative standard for children with an Angle Class I molar relationship, and compare them to those with an Angle Class II molar relationship. The material consisted of the radiographs of 363 children, 184 (50.7 per cent) boys and 179 (49.3 per cent) girls with a mean age of 6 years 7 months (range: 5 years 7 months-7 years 8 months). Twenty-two reference points were digitized and processed by standard methods with the Dentofacial Planner computer software program. The 33 variables calculated included both angular and linear. Two sample t-tests were used to study the differences between different groups. Only minimal differences could be noted between sexes in sagittal and vertical angular measurements. Linear measurements, on the other hand, were usually larger for the boys. When compared with Norwegian material of the same age group, similar trends were observed between sexes in both studies, but the Icelandic children showed slightly more mandibular prognathism and a lower mandibular plane angle. When compared with children with an Angle Class I molar relationship, children with an Angle Class II molar relationship did not have a different maxillary prognathism nor a different mandibular length. Cranial base dimensions were all significantly greater and the cranial base flexure was also significantly more obtuse in the distal group.