{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T16:02:34Z","timestamp":1780070554997,"version":"3.54.0"},"reference-count":66,"publisher":"The Angle Orthodontist (EH Angle Education & Research Foundation)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,11]]},"abstract":"ABSTRACT<\/jats:title>\n \n Objective:\u2002<\/jats:title>\n To identify genetic and environmental factors contributing to hypodontia and microdontia by using Korean twin family data.<\/jats:p>\n <\/jats:sec>\n \n Materials and Methods:\u2002<\/jats:title>\n A total of 1267 individuals (525 men and 742 women; 180 monozygotic twins [MZ] and 43 dizygotic twins [DZ] from 282 families) underwent an oral examination as part of the Healthy Twin Study in Korea. Dental anomalies classified as hypodontia or microdontia were diagnosed using radiographs and clinical examinations. In order to estimate genetic contributions to dental anomalies, we estimated the pairwise concordance rate (PCR), recurrence risk ratio (RRR), and heritability (h2).<\/jats:p>\n <\/jats:sec>\n \n Results:\u2002<\/jats:title>\n The prevalence of hypodontia and microdontia was 3.55% and 3.00%, respectively. MZ had the highest PCR and RRR (13.0\u201315.3). The PCR and RRR values for both anomalies were much higher for DZ (5.0\u201311.9) than for siblings (1.4\u20132.6), despite the fact that DZ pairs and sibling pairs share 50% genetic identity. Further genetic analysis revealed both an additive genetic effect (0.38 when hypodontia and microdontia were pooled) and a strong \u201ctwin effect\u201d (0.52 when hypodontia and microdontia were pooled).<\/jats:p>\n <\/jats:sec>\n \n Conclusions:\u2002<\/jats:title>\n This twin-based study revealed that the formation of dental anomalies is affected by both genetic and environmental factors, and that the impact of these factors varies according to the specific dental anomaly.<\/jats:p>\n <\/jats:sec>","DOI":"10.2319\/052814-376.1","type":"journal-article","created":{"date-parts":[[2014,12,22]],"date-time":"2014-12-22T10:24:34Z","timestamp":1419243874000},"page":"980-985","source":"Crossref","is-referenced-by-count":20,"title":["Epidemiology and genetics of hypodontia and microdontia: A study of twin families"],"prefix":"10.2319","volume":"85","author":[{"given":"Kwang Ho","family":"Jeong","sequence":"first","affiliation":[{"name":"Graduate Student, Department of Orthodontics, Institute of Oral Health Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daeeun","family":"Kim","sequence":"additional","affiliation":[{"name":"Graduate Student, Department of Epidemiology, School of Public Health, Seoul National University, and Senior Researcher, Health Policy Research Department, Korea Institute for Health and Social Affairs, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Mi","family":"Song","sequence":"additional","affiliation":[{"name":"Professor, Department of Family Medicine, Samsung Medical Center, and Center for Clinical Research, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joohon","family":"Sung","sequence":"additional","affiliation":[{"name":"Professor, Department of Epidemiology, School of Public Health, Seoul National University, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Ho","family":"Kim","sequence":"additional","affiliation":[{"name":"Professor and Chairman, Department of Orthodontics, Institute of Oral Health Science, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1164","reference":[{"key":"r1","series-title":"Acta Odontol Scand","first-page":"201","article-title":"Frequency of hypodontia in relation to tooth size and dental arch width","volume":"32","author":"Wisth\n PJ,","year":"1974","unstructured":"Wisth\n PJ, \n \n Thunold\n K, \n \n Boe\n OE. \n \n Frequency of hypodontia in relation to tooth size and dental arch width. Acta Odontol Scand. 1974;32:201\u2013206."},{"key":"r2","series-title":"Eur J Paediatr Dent","first-page":"21","article-title":"Genetic basis of non syndromic hypodontia: a DNA investigation performed on three couples of MZ twins about PAX9 mutation","volume":"12","author":"Militi\n D,","year":"2011","unstructured":"Militi\n D, \n \n Militi\n A, \n \n Cutrupi\n MC, \n et al. \n Genetic basis of non syndromic hypodontia: a DNA investigation performed on three couples of MZ twins about PAX9 mutation. Eur J Paediatr Dent. 2011;12:21\u201324."},{"key":"r3","series-title":"Eur Arch Paediatr Dent","first-page":"405","article-title":"Candidate gene studies in hypodontia suggest role for FGF3","volume":"14","author":"Vieira\n AR,","year":"2013","unstructured":"Vieira\n AR, \n \n D'Souza\n RN, \n \n Mues\n G, \n et al. \n Candidate gene studies in hypodontia suggest role for FGF3. Eur Arch Paediatr Dent. 2013;14:405\u2013410."},{"key":"r4","series-title":"Scand J Dent Res","first-page":"12","article-title":"The prevalence of malocclusion in Swedish schoolchildren","volume":"81","author":"Thilander\n B,","year":"1973","unstructured":"Thilander\n B, \n \n Myrberg\n N. \n \n The prevalence of malocclusion in Swedish schoolchildren. Scand J Dent Res. 1973;81:12\u201321."},{"key":"r5","series-title":"Quintessence Int","first-page":"263","article-title":"Hypodontia\u2014a retrospective review of prevalence and etiology. Part I","volume":"36","author":"Larmour\n CJ,","year":"2005","unstructured":"Larmour\n CJ, \n \n Mossey\n PA, \n \n Thind\n BS, \n \n Forgie\n AH, \n \n Stirrups\n DR. \n \n Hypodontia\u2014a retrospective review of prevalence and etiology. Part I. Quintessence Int. 2005;36:263\u2013270."},{"key":"r6","series-title":"BMJ Case Rep","article-title":"Familial aggregation of maxillary lateral incisor agenesis (MLIA)","author":"Pandey\n P,","year":"2013","unstructured":"Pandey\n P, \n \n Ansari\n AA, \n \n Choudhary\n K, \n \n Saxena\n A. \n \n Familial aggregation of maxillary lateral incisor agenesis (MLIA). BMJ Case Rep. 2013. (in press)."},{"key":"r7","series-title":"Am J Orthod Dentofacial Orthop","first-page":"29","article-title":"A survey of hypodontia in Japanese orthodontic patients","volume":"129","author":"Endo\n T,","year":"2006","unstructured":"Endo\n T, \n \n Ozoe\n R, \n \n Kubota\n M, \n \n Akiyama\n M, \n \n Shimooka\n S. \n \n A survey of hypodontia in Japanese orthodontic patients. Am J Orthod Dentofacial Orthop. 2006;129:29\u201335."},{"key":"r8","series-title":"Eur J Paediatr Dent","first-page":"123","article-title":"Prevalence and distribution of hypodontia in a Turkish orthodontic patient population: results from a large academic cohort","volume":"12","author":"Topkara\n A,","year":"2011","unstructured":"Topkara\n A, \n \n Sari\n Z. \n \n Prevalence and distribution of hypodontia in a Turkish orthodontic patient population: results from a large academic cohort. Eur J Paediatr Dent. 2011;12:123\u2013127."},{"key":"r9","series-title":"Community Dent Health","first-page":"258","article-title":"Reported prevalence of congenitally missing teeth in two Norwegian counties","volume":"19","author":"Nordgarden\n H,","year":"2002","unstructured":"Nordgarden\n H, \n \n Jensen\n JL, \n \n Storhaug\n K. \n \n Reported prevalence of congenitally missing teeth in two Norwegian counties. Community Dent Health. 2002;19:258\u2013261."},{"key":"r10","series-title":"Am J Phys Anthropol","first-page":"129","article-title":"Hypodontia: prevalence amongst Jewish populations of different origin","volume":"39","author":"Eidelman\n E,","year":"1973","unstructured":"Eidelman\n E, \n \n Chosack\n A, \n \n Rosenzweig\n KA. \n \n Hypodontia: prevalence amongst Jewish populations of different origin. Am J Phys Anthropol. 1973;39:129\u2013133."},{"key":"r11","series-title":"Twin Res Hum Genet","first-page":"844","article-title":"Healthy Twin: a twin-family study of Korea\u2014protocols and current status","volume":"9","author":"Sung\n J,","year":"2006","unstructured":"Sung\n J, \n \n Cho\n SI, \n \n Lee\n K, \n et al. \n Healthy Twin: a twin-family study of Korea\u2014protocols and current status. Twin Res Hum Genet. 2006;9:844\u2013848."},{"key":"r12","series-title":"Am J Orthod Dentofacial Orthop","first-page":"732 e1","article-title":"Agenesis of maxillary lateral incisors and associated dental anomalies","volume":"137","author":"Garib\n DG,","year":"2010","unstructured":"Garib\n DG, \n \n Alencar\n BM, \n \n Lauris\n JR, \n \n Baccetti\n T. \n \n Agenesis of maxillary lateral incisors and associated dental anomalies. Am J Orthod Dentofacial Orthop. 2010;137:732 e1\u2013e6; discussion 732\u2013733."},{"key":"r13","series-title":"Am J Orthod Dentofacial Orthop","first-page":"441","article-title":"Prevalence of tooth agenesis and peg-shaped maxillary lateral incisor associated with palatally displaced canine (PDC) anomaly","volume":"110","author":"Peck\n S,","year":"1996","unstructured":"Peck\n S, \n \n Peck\n L, \n \n Kataja\n M. \n \n Prevalence of tooth agenesis and peg-shaped maxillary lateral incisor associated with palatally displaced canine (PDC) anomaly. Am J Orthod Dentofacial Orthop. 1996;110:441\u2013443."},{"key":"r14","series-title":"Acta Odontol Scand","first-page":"563","article-title":"The inheritance pattern of missing, peg-shaped, and strongly mesio-distally reduced upper lateral incisors","volume":"27","author":"Alvesalo\n L,","year":"1969","unstructured":"Alvesalo\n L, \n \n Portin\n P. \n \n The inheritance pattern of missing, peg-shaped, and strongly mesio-distally reduced upper lateral incisors. Acta Odontol Scand. 1969;27:563\u2013575."},{"key":"r15","series-title":"Twin Res Hum Genet","first-page":"241","article-title":"The Healthy Twin Study, Korea updates: resources for omics and genome epidemiology studies","volume":"16","author":"Gombojav\n B,","year":"2013","unstructured":"Gombojav\n B, \n \n Song\n YM, \n \n Lee\n K, \n et al. \n The Healthy Twin Study, Korea updates: resources for omics and genome epidemiology studies. Twin Res Hum Genet. 2013;16:241\u2013245."},{"key":"r16","series-title":"Twin Res Hum Genet","first-page":"223","article-title":"Validity of the zygosity questionnaire and characteristicsof zygosity-misdiagnosed twin pairs in the Healthy Twin Study of Korea","volume":"13","author":"Song\n YM,","year":"2010","unstructured":"Song\n YM, \n \n Lee\n D, \n \n Lee\n MK, \n et al. \n Validity of the zygosity questionnaire and characteristicsof zygosity-misdiagnosed twin pairs in the Healthy Twin Study of Korea. Twin Res Hum Genet. 2010;13:223\u2013230."},{"key":"r17","series-title":"J Korean Dent Sci","first-page":"17","article-title":"Consideration of clinically related dental anomalies: prevalence and association","volume":"3","author":"Kim\n YH,","year":"2010","unstructured":"Kim\n YH, \n \n Kim\n SH, \n \n Baek\n SH. \n \n Consideration of clinically related dental anomalies: prevalence and association. J Korean Dent Sci. 2010;3:17\u201324."},{"key":"r18","series-title":"Angle Orthod","first-page":"267","article-title":"A controlled study of associated dental anomalies","volume":"68","author":"Baccetti\n T.","year":"1998","unstructured":"Baccetti\n T. \n \n A controlled study of associated dental anomalies. Angle Orthod. 1998;68:267\u2013274."},{"key":"r19","series-title":"Int J Paediatr Dent","first-page":"11","article-title":"Variations in number and morphology of permanent teeth in 7-year-old Swedish children","volume":"11","author":"Backman\n B,","year":"2001","unstructured":"Backman\n B, \n \n Wahlin\n YB. \n \n Variations in number and morphology of permanent teeth in 7-year-old Swedish children. Int J Paediatr Dent. 2001;11:11\u201317."},{"key":"r20","series-title":"Schizophr Bull","first-page":"171","article-title":"When assessing twin concordance, use the probandwise not the pairwise rate","volume":"18","author":"McGue\n M.","year":"1992","unstructured":"McGue\n M. \n \n When assessing twin concordance, use the probandwise not the pairwise rate. Schizophr Bull. 1992;18:171\u2013176."},{"key":"r21","series-title":"Am J Hum Genet","first-page":"229","article-title":"Linkage strategies for genetically complex traits. II. The power of affected relative pairs","volume":"46","author":"Risch\n N.","year":"1990","unstructured":"Risch\n N. \n \n Linkage strategies for genetically complex traits. II. The power of affected relative pairs. 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Adv Genet. 2001;42:151\u2013181."},{"key":"r24","series-title":"J Clin Endocrinol Metab","first-page":"4946","article-title":"Heritabilities of the metabolic syndrome phenotypes and related factors in Korean twins","volume":"94","author":"Sung\n J,","year":"2009","unstructured":"Sung\n J, \n \n Lee\n K, \n \n Song\n YM. \n \n Heritabilities of the metabolic syndrome phenotypes and related factors in Korean twins. J Clin Endocrinol Metab. 2009;94:4946\u20134952."},{"key":"r25","series-title":"Genet Epidemiol","first-page":"987","article-title":"A variance component approach to dichotomous trait linkage analysis using a threshold model","volume":"14","author":"Duggirala\n R,","year":"1997","unstructured":"Duggirala\n R, \n \n Williams\n JT, \n \n Williams-Blangero\n S, \n \n Blangero\n J. \n \n A variance component approach to dichotomous trait linkage analysis using a threshold model. Genet Epidemiol. 1997;14:987\u2013992."},{"key":"r26","series-title":"J Oral Sci","first-page":"143","article-title":"An orthopantomographic study of hypodontia in permanent teeth of Japanese pediatric patients","volume":"50","author":"Goya\n HA,","year":"2008","unstructured":"Goya\n HA, \n \n Tanaka\n S, \n \n Maeda\n T, \n \n Akimoto\n Y. \n \n An orthopantomographic study of hypodontia in permanent teeth of Japanese pediatric patients. J Oral Sci. 2008;50:143\u2013150."},{"key":"r27","series-title":"ISRN Dent","first-page":"246135","article-title":"Investigation of hypodontia as clinically related dental anomaly: prevalence and characteristics","author":"Kim\n YH.","year":"2011","unstructured":"Kim\n YH. \n \n Investigation of hypodontia as clinically related dental anomaly: prevalence and characteristics. ISRN Dent. 20112011:246135."},{"key":"r28","series-title":"Angle Orthod","first-page":"996","article-title":"Hypodontia patterns and variations in craniofacial morphology in Japanese orthodontic patients","volume":"76","author":"Endo\n T,","year":"2006","unstructured":"Endo\n T, \n \n Ozoe\n R, \n \n Yoshino\n S, \n \n Shimooka\n S. \n \n Hypodontia patterns and variations in craniofacial morphology in Japanese orthodontic patients. Angle Orthod. 2006;76:996\u20131003."},{"key":"r29","series-title":"Am J Orthod Dentofacial Orthop","first-page":"510","article-title":"Prevalence and distribution of dental anomalies in orthodontic patients","volume":"131","author":"Altug-Atac\n AT,","year":"2007","unstructured":"Altug-Atac\n AT, \n \n Erdem\n D. \n \n Prevalence and distribution of dental anomalies in orthodontic patients. Am J Orthod Dentofacial Orthop. 2007;131:510\u2013514."},{"key":"r30","series-title":"Lepr Rev","first-page":"133","article-title":"Estimating the relative recurrence risk ratio for leprosy in Karonga District, Malawi","volume":"74","author":"Wallace\n C,","year":"2003","unstructured":"Wallace\n C, \n \n Clayton\n D, \n \n Fine\n P. \n \n Estimating the relative recurrence risk ratio for leprosy in Karonga District, Malawi. Lepr Rev. 2003;74:133\u2013140."},{"key":"r31","series-title":"Eur J Orthod","first-page":"145","article-title":"Congenital tooth anomalies and malocclusions: a genetic link","volume":"23","author":"Basdra\n EK,","year":"2001","unstructured":"Basdra\n EK, \n \n Kiokpasoglou\n MN, \n \n Komposch\n G. \n \n Congenital tooth anomalies and malocclusions: a genetic link? 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