Atteeri Anjana, Neela Praveen Kumar, Mamillapalli Pavan Kumar, Sesham Vasu M, Keesara Sreekanth, Chandra Jaya, Monica Udayini, Mohan Vasavi, Miryala Shubhangi, Khan Fatema A, Makthal Priyanka
Department of Orthodontics, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India.
Department of Genetics and Molecular Medicine, Vasavi Medical and Research Centre, Hyderabad, Telangana, India.
Glob Med Genet. 2021 Jun 25;8(4):156-161. doi: 10.1055/s-0041-1731066. eCollection 2021 Dec.
Mandibular prognathism (MP) is a craniofacial deformity resulting from the combined effects of environmental and genetic factors. Although various linkage and genome-wide association studies for mandibular prognathism have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remained ambiguous. This research work was aimed to study the association between polymorphism rs10850110 of the gene and skeletal class-III malocclusion in our local population. Thirty patients with skeletal class III due to mandibular prognathism in the study group and 30 patients with skeletal class I in the control group were selected for this study. These patients were from both sexes and above age 10 years. Based on the cephalometric values, patients were categorized into study and control groups. SNB (angle between sella, nasion and point B at nasion) greater than 82 degrees with an ANB (angle between point A, nasion and point B at nasion) of less than 0 degrees in the study group and ANB (angle between point A, nasion and point B at nasion) of 2 to 4 degrees in the control group were categorized. The polymorphism (rs10850110) of the gene was genotyped using polymerase chain reaction and restriction fragment length polymorphism. Associations were tested with SNP exact test using SNPstats software. The single-nucleotide polymorphism rs10850110 showed a statistically significant association with mandibular prognathism. The G allele of marker rs10850110 (5' of myosin1H ) was overrepresented when compared with the "A" allele in mandibular prognathism cases ( < 0.0001), and this was very significant. These results suggest that the rs10850110 polymorphism of the gene is associated with an increased risk for mandibular prognathism.
下颌前突（MP）是一种由环境和遗传因素共同作用导致的颅面畸形。尽管针对下颌前突进行了各种连锁和全基因组关联研究，已确定了多个强相关区域和基因，但导致该畸形的致病基因和变异仍不明确。 本研究旨在探讨该基因多态性rs10850110与我们当地人群Ⅲ类骨性错牙合畸形之间的关联。 本研究选取了研究组中30例因下颌前突导致Ⅲ类骨性错牙合畸形的患者和对照组中30例Ⅰ类骨性错牙合畸形的患者。这些患者年龄均在10岁以上，涵盖了不同性别。根据头影测量值，将患者分为研究组和对照组。研究组中，蝶鞍点、鼻根点与鼻根点处B点所形成的角（SNB）大于82°，且鼻根点处A点、鼻根点与鼻根点处B点所形成的角（ANB）小于0°；对照组中，鼻根点处A点、鼻根点与鼻根点处B点所形成的角（ANB）为2至4°。采用聚合酶链反应和限制性片段长度多态性方法对该基因的多态性（rs10850110）进行基因分型。使用SNPstats软件通过SNP精确检验来检测关联性。 单核苷酸多态性rs10850110与下颌前突存在统计学上的显著关联。与下颌前突病例中的“A”等位基因相比，标记rs10850110（肌球蛋白1H基因5'端）的G等位基因出现频率过高（P < 0.0001），且这种差异非常显著。 这些结果表明，该基因的rs10850110多态性与下颌前突风险增加有关。
