Association between CYP19A1 genotype and pubertal sagittal jaw growth

• Published in: American journal of orthodontics and dentofacial orthopedics Vol. 142; no. 5; pp. 662 - 670
• Main Authors: He, Shushu, Hartsfield, James K, Guo, Yujiao, Cao, Yang, Wang, Si, Chen, Song
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01-11-2012; Elsevier
• Subjects: Aromatase - genetics; Asian Continental Ancestry Group - genetics; Biological and medical sciences; Cephalometry; Child; China; Dentistry; Female; Gene Frequency; Haplotypes; Humans; Least-Squares Analysis; Linear Models; Linkage Disequilibrium; Male; Mandible - anatomy & histology; Mandible - growth & development; Maxilla - anatomy & histology; Maxilla - growth & development; Maxillofacial Development - genetics; Medical sciences; Otorhinolaryngology. Stomatology; Polymorphism, Single Nucleotide; Reproducibility of Results; Sex Factors; China; Jaw; Orthodontic procedures; Microbiological investigation; Association; Typing; Growth; Genotype; Dentistry
• ISSN: 0889-5406; 1097-6752
• DOI: 10.1016/j.ajodo.2012.06.014

Introduction Sagittal jaw growth is influenced during puberty by a ratio of androgens and estrogens. The CYP19A1 (formerly CYP19 ) gene encodes the cytochrome P450 enzyme aromatase (estrogen synthetase), which converts testosterone to estrogen. Genetic variations including single nucleotide polymorphisms might regulate CYP19A1 gene expression or the function of the aromatase protein and thus influence sagittal jaw growth. Methods The annual sagittal jaw growth in 92 pubertal orthodontic patients was determined by using pretreatment and posttreatment cephalometric radiographs. Single nucleotide polymorphisms rs2470144 and rs2445761 were genotyped and haplotypes constructed. Associations between genotypes or haplotypes and the annual sagittal growth were estimated by using JMP (version 9.0; SAS Institute, Cary, NC). Results Two single nucleotide polymorphisms were significantly associated with average differences in annual sagittal jaw growth in boys. Haplotype analysis demonstrated that haplotypes Trs2470144 Trs2445761 and Crs2470144 Trs2445761 had significant effects on annual sagittal maxillary growth and on mandibular growth in boys. No association was found in girls. Conclusions A quantitative trait locus that influences male pubertal sagittal jaw growth might exist in the CYP19A1 gene, and single nucleotide polymorphisms rs2470144 and rs2445761 might be inside this quantitative trait locus or be linked to it.