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Kim, Cho, Baek, Lee, Kim, Kim, Suh, Baek, Hong, and Paeng: Genetic influence and heritability in mandibular prognathism of Korean families
Original Article

J Korean Assoc Oral Maxillofac Surg 2010;36(6):502-507.

Published online: 7 January 2010

DOI: https://doi.org/10.5125/jkaoms.2010.36.6.502

Genetic influence and heritability in mandibular prognathism of Korean families

Young Ho Kim1, Han Young Cho1, Chae Hwan Baek2, Ah-Young Lee1, Gunjong Kim2, Whi Young Kim3, Young Ju Suh4, Seung-Hak Baek, Jongrak Hong2, Jun-Young Paeng2

1Department of Orthodontics, Sungkyunkwan University, Seoul, Korea

2Department of Oral and Maxillofacial Surgery, the Institute of Oral Health Science, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Korea

3Research Center for Future Medicine, Samsung Medical Center, Seoul, Korea

4Clinical Research Institute, School of Medicine, Inha University, Inchon, Korea

5Department of Orthodontics, School of Dentistry, Dental Research Institute, Seoul National University, Seoul, Korea

Jun-Young Paeng Department of Oral and Maxillofacial Surgery, the Institute of Oral Health and Science, Samsung Medical Center, School of Medicine, Sungkyunkwan University #50, Irwon-dong, Gangnam-gu, Seoul 135-710, Korea TEL: +82-2-3410-2420 FAX: +82-2-3410-0038 E-mail: jypaeng@gmail.com

Received 31 August 201030 November 2010       Accepted 17 December 2010

Copyright © 2010 Korean Association of Oral and Maxillofacial Surgeons

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Introduction

This study examined the genetic influence of mandibular prognathism epidemiologically in Korean families.

Materials and Methods

Over a 5-year period from 2005 to 2009, a questionnaire with a pedigree chart was given to 100 (male 51, female 49) probands with skeletal Class III mandibular prognathism, who had undergone orthognathic surgery in Samsung Medical Center.

Results

The average age of the probands was 22.1. The average SNA, SNB and ANB angles of the probands were 81.2�, 84.1� and -2.9�, respectively. A total of 2729 (male 1,354, female 1,375) family members were examined, and the affected ratio of the families was 3.5% with no significant difference between genders. 45% of families had at least one member with a Class III malocclusion other than the proband. The affected ratio of the first-degree relatives (10.9%) was significantly higher than those of the second-degree (3.3%) and third-degree (1.9%) relatives. The affected ratio of the total relatives from the male probands (4.2%) was significantly higher than that of the female probands (2.8%). Heritability (h2, Falconer’ method) was estimated to be 29.8% (0.298±0.059) in first-degree relatives.

Conclusion

These results showed the significant influence of mandibular prognathism with relatively low heritability in first-degree relatives in Korean families of probands, who had undergone orthognathic surgery to correct a skeletal Class III malocclusion.

Keywords: Mandibular prognathism, Genetic influence, Epidemiologic investigation, Heritability

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Fig. 1.
Questionnaire with pedigree chart used in this study.
jkaoms-36-502f1.tif
Fig. 2.
Diagnostic tools for the evaluation of skeletal Class III mandibular prognathism. A: Lateral photograph, B: Cephalogram, C: Study model.
jkaoms-36-502f2.tif
Table 1.
Cephalometric measurements of 100 probands
Probands (n) Age SNA (°) SNB (°) ANB (°) Wits (mm) FMA (°)
Male (51) 22.7±4.9 80.8±3.2 84.5±3.8 −3.7±2.2 −12.5±3.9 27.6±6.1
Female (49) 21.4±5.4 81.8±3.1 83.6±4.1 −2.1±3.5 −10.8±5.3 28.8±6.4
Total (100) 22.1±5.2 81.2±3.2 84.1±3.9 −2.9±3.0 −11.7±4.7 28.2±6.2

SNA: sella-nasion-A point ang, SNB: sella-nasion-B point ang, ANB: A point-nasion-B point, FMA: frankfort-mandibular plane angle

Table 2.
Affected ratios of relatives of 100 probands
Relatives Affected Unaffected Total Affected ratio (%) P1
Male 45 1,309 1,354 3.3  
Female 50 1,325 1,375 3.6 0.656
Total 95 2,634 2,729 3.5  

(P1: x2 test)

Table 3.
Probands with at least one affected member
Probands Affected Unaffected Total P1
Male 22 29 51  
Female 23 26 49 0.703
Total 45 (45%) 55 (55%) 100 (100%)  

(P1: x2 test)

Table 4.
Affected ratio of first-, second-, and third-degree relatives
Relatives Affected Unaffected Affected ratio (%) P1
First-degree relative
Father 7 92 7.10%  
Mother 15 84 15.20% 0.182
Sibling 13 111 10.50%  
Male 15 149 9.10%  
Female 20 138 12.70% 0.312
Total 35 287 10.90%  
Second-degree relative
Male 15 445 3.30%  
Female 18 508 3.40% 0.888
Total 33 953 3.30%  
Third-degree relative
Male 15 715 2.10%  
Female 12 679 1.70% 0.661
Total 27 1394 1.90%  
P2<0.0001

(P1: x2 test within each degree of relatives)

(P2: x2 test to evaluate that the affected ratios were different among the 1st, 2nd and 3rd degree relatives. The affected ratio of the 1st degree relative was significantly different from that of the 2nd degree relative or that of the 3rd degree relative, respectively P<0.0001 by Fisher' s exact test with adjustments by permutation resampling)

Table 5.
Affected ratio for relatives by probands’ sex
Probands First-degree Second-degree Third-degree Total
Male 11.80% 4.00% 2.50% 4.20%
Female 9.80% 2.70% 1.30% 2.80%
P1 1.000∗ 0.686∗ 0.325∗ 0.049

P1: x2 test, 1.000∗, 0.686∗, 0.325∗: x2 test with adjustments by Bonferroni correction for subgroup analyses)

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