下颌前突畸形遗传学病因的研究进展

doi:10.3969/j.issn.1005-4979.2017.06.013

摘要/Abstract

摘要：

下颌前突（mandibular proghathism，MP）是一种常见的颅颌面发育畸形，其病因较为复杂，是由环境和遗传因素共同作用引起的复杂疾病。由于下颌前突畸形有明显的家族聚集性，遗传因素在其病因中发挥的作用逐渐受到学者们的重视。近年来，随着遗传学检测和分析手段的发展，通过家系连锁分析和病例对照关联研究等，许多与下颌前突畸形相关的基因和基因多态被报道，这些研究进展有助于下颌前突遗传学病因和发病机制的理解。本文将对下颌前突畸形遗传学病因的研究进展从遗传模式、家系连锁分析、病例对照关联研究和microRNA的相关研究等方面做一综述。

关键词:

, 下颌前突； , , 连锁分析； , , 关联研究； , , 寡核苷酸多态性； , , microRNA

Abstract:

Mandibular prognathism(MP) is a common craniofacial deformity resulting from the complex interaction between genes and environment. Since family aggregation is observed in MP patients, genetic components are considered to play important roles in developing MP. Recent studies have demonstrated that susceptible chromosomal regions and candidate genes may be responsible for MP. In this study, the author present current views from linkage analysis, association and microRNA related study on the effect of genetic components in mandibular prognathism in order to clarify the genetic etiology of MP.

Key words:

mandibular prognathism, linkage analysis, association study, single nucleotide polymorphisms, microRNA

中图分类号:

R782

孙榕榕（综述）陈凤山（审校）. 下颌前突畸形遗传学病因的研究进展[J]. 《口腔颌面外科杂志》, doi: 10.3969/j.issn.1005-4979.2017.06.013.

SUN Rong-rong, CHEN Feng-shan.

Genetic Etiology of Mandibular Prognathism

[J]. 《Journal of Oral and Maxillofacial Surgery》, doi: 10.3969/j.issn.1005-4979.2017.06.013.

https://journal06.magtech.org.cn/Jweb_joms/CN/Y2017/V27/I6/441

参考文献

[1] Emrich RE, Brodie AG, Blayney JR. Prevalence of Class 1, Class 2, and Class 3 malocclusions (Angle) in an urban population. An epidemiological study[J]. J Dent Res, 1965, 44(5):947-53.

[2] Garner LD, Butt MH. Malocclusion in black Americans and Nyeri Kenyans. An epidemiologic study[J]. Angle Orthod, 1985, 55(2):139-46.

[3] Joshi N, Hamdan AM, Fakhouri WD. Skeletal malocclusion: a developmental disorder with a life-long morbidity[J]. J Clin Med Res, 2014, 6(6):399-408.

[4] Newman GV. Prevalence of malocclusion in children six to fourteen years of age and treatment in preventable cases[J]. J Am Dent Assoc, 1956, 52(5):566-75.

[5] Naini FB, Moss JP, Gill DS. The enigma of facial beauty: esthetics, proportions, deformity, and controversy[J]. Am J Orthod Dentofacial Orthop, 2006, 130(3):277-82.

[6] Ngan P, Moon W. Evolution of Class III treatment in orthodontics[J]. Am J Orthod Dentofacial Orthop, 2015, 148(1):22-36.

[7] Proffit WR, White RP Jr. Who needs surgical-orthodontic treatment[J]? Int J Adult Orthodon Orthognath Surg, 1990, 5(2):81-9.

study of Class 3 malocclusion[J]. Am J Orthod, 1970, 58(6):565-77.

[13] Wolff G, Wienker TF, Sander H. On the genetics of mandibular prognathism: analysis of large European noble families[J]. J Med Genet, 1993, 30(2):112-6.

[14] El-Gheriani AA, Maher BS, El-Gheriani AS, et al. Segregation analysis of mandibular prognathism in Libya[J]. J Dent Res, 2003, 82(7):523-7.

[15] Cruz RM, Krieger H, Ferreira R, et al. Major gene and multifactorial inheritance of mandibular prognathism[J]. Am J Med Genet A, 2008,146a(1):71-7.

[16] Thein SL, Menzel S. Discovering the genetics underlying foetal haemoglobin production in adults[J]. Br J Haematol, 2009, 145(4):455-67.

[17] Yamaguchi T, Park SB, Narita A, et al. Genome-wide linkage analysis of mandibular prognathism in Korean and Japanese patients[J]. J Dent Res, 2005, 84(3):255-9.

[18] Frazier-Bowers S, Rincon-Rodriguez R, Zhou J, et al. Evidence of linkage in a Hispanic cohort with a Class III dentofacial phenotype[J]. J Dent Res, 2009, 88(1):56-60.

[19] Li Q, Zhang F, Li X, et al. Genome scan for locus involved in mandibular prognathism in pedigrees from China[J]. PLoS One, 2010, 5(9).

[20] Li Q, Li X, Zhang F, et al. The identification of a novel locus for mandibular prognathism in the Han Chinese population[J]. J Dent Res, 2011, 90(1):53-7.

[21] Nikopensius T, Saag M, Jagomagi T, et al. A missense mutation in DUSP6 is associated with Class III malocclusion[J]. J Dent Res, 2013, 92(10):893-8.

[22] Chen F, Li Q, Gu M, et al. Identification of a Mutation in FGF23 Involved in Mandibular Prognathism[J]. Sci Rep, 2015, 5:11250.

[23] Guan X, Song Y, Ott J, et al. The ADAMTS1 gene is associated with familial mandibular prognathism[J]. J Dent Res, 2015, 94(9):1196-201.

[24] Risch N, Merikangas K. The future of genetic studies of complex human diseases[J]. Science, 1996, 273(5281):1516-7.

[25] Xue F, Wong R, Rabie AB. Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population[J]. Arch Oral Biol, 2010, 55(11):867-72.

[26] Xue F, Rabie AB, Luo G. Analysis of the association of COL2A1 and IGF-1 with mandibular prognathism in a Chinese population[J]. Orthod Craniofac Res, 2014, 17(3):144-9.

[27] Jang JY, Park EK, Ryoo HM, et al. Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans[J]. J Dent Res, 2010, 89(11):1203-7.

[28] Tassopoulou-Fishell M, Deeley K, Harvey EM, et al. Genetic variation in myosin 1H contributes to mandibular prognathism[J]. Am J Orthod Dentofacial Orthop, 2012, 141(1):51-9.

[29] Perillo L., Monsurro A, Bonci E, et al. Genetic association of ARHGAP21 gene variant with mandibular prognathism[J]. J Dent Res, 2015, 94(4):569-76.

[30] Ikuno K, Kajii TS, Oka A, et al. Microsatellite genome-wide association study for mandibular prognathism[J]. Am J Orthod Dentofacial Orthop, 2014, 145(6):757-62.

[31] Ambros V. The functions of animal microRNAs[J]. Nature, 2004. 431(7006):350-5.

[32] Gu Y, Zhang Y, Zhao C, et al. Serum microRNAs as potential biomarkers of mandibular prognathism[J]. Oral Dis, 2014, 20(1):55-61.

[33] Tian Y, Liu J, Bai X, et al. MicroRNA expression profile of surgical removed mandibular bone tissues from patients with mandibular prognathism[J]. J Surg Res, 2015, 198(1):127-34.

[1]	张雨菡，韩雯斐，孟博，苏俭生，肖凡. 调控小鼠腮腺分泌中枢神经系统相关核团的分布[J]. 《口腔颌面外科杂志》, 2019, 29(3): 121-.
[2]	马旭辉，王丽珍，任国欣，吴云腾，顾挺，郭伟. SOX10作为原发性口腔黏膜恶性黑色素瘤分子诊断指标的初步研究[J]. 《口腔颌面外科杂志》, 2019, 29(3): 131-.
[3]	范德生，甄蕾，汪黎明. miRNA-31对糖尿病小鼠来源骨髓间充质干细胞体外成骨分化的影响[J]. 《口腔颌面外科杂志》, 2019, 29(3): 137-.
[4]	郭泽鸿，周磊，徐淑兰，丁祥龙，赵春萍, 卢灿. 改良式骨劈开术水平骨增量对软硬组织的影响[J]. 《口腔颌面外科杂志》, 2019, 29(3): 142-.
[5]	张庆福，牛璐，符国才，聂恒金，吕春堂. 中段桥接式钛合金全下颌骨植入体的设计制作研究[J]. 《口腔颌面外科杂志》, 2019, 29(3): 148-.
[6]	吴东，林兆楠，林彦君，周麟，游冬冬，黄文秀，陈永辉. 自体牙来源骨移植材料在口腔种植中应用的短期临床观察[J]. 《口腔颌面外科杂志》, 2019, 29(3): 152-.
[7]	冯海楠，王淼，常晓峰，杜良智，周慧霞，李晓红，刘少丽，贺龙龙. 上颌窦底提升术后种植修复的十年临床回顾分析[J]. 《口腔颌面外科杂志》, 2019, 29(3): 159-.
[8]	施雄，李生娇，周剑萍，张利，李百龙. 锥形束CT在牙内陷诊断中的应用[J]. 《口腔颌面外科杂志》, 2019, 29(3): 164-.
[9]	岳广娜，王佐林. 石墨烯家族生物相容性的研究进展[J]. 《口腔颌面外科杂志》, 2019, 29(3): 169-.
[10]	孙睿男，王佐林. 单细胞转录组测序技术进展及其在间充质干细胞研究中的应用#br#[J]. 《口腔颌面外科杂志》, 2019, 29(3): 174-.
[11]	李宏权1，宋扬1，李志耀1，吴玉波1，钱文昊1，周曾同2. 丹酚酸B及其磷脂复合纳米粒抑制口腔鳞癌和白斑细胞株的作用[J]. 《口腔颌面外科杂志》, 2018, 28(6): 314-321.
[12]	王佐林，王方. 创新发展，求同存异 ——“争鸣与共识”种植论坛（第四季）学术共识[J]. 《口腔颌面外科杂志》, 2018, 28(2): 61-.
[13]	万会璇，蔡明详，孙瑶. 局部激活破骨细胞对大鼠应用双膦酸盐后拔牙创愈合的影响[J]. 《口腔颌面外科杂志》, 2018, 28(2): 65-.
[14]	李威，杨旭东，王志勇，卢晓林，王洋，王育新. 数字化技术辅助颌骨截骨及颌面修复的临床应用[J]. 《口腔颌面外科杂志》, 2018, 28(2): 75-.
[15]	刘弦1，易杰2，胡小华2，姚礼2，张霓霓2，黄桂林2. 前哨淋巴结冰冻切片在口腔癌颈淋巴结清扫术的应用研究[J]. 《口腔颌面外科杂志》, 2018, 28(2): 80-.

选择文件类型/文献管理软件名称

选择包含的内容