Phan Hoanh Duy Ba, Phuong Lam Hoai, Vu Hoang Anh
Department of Oral and Maxillofacial Surgery, University Medical Center, Ho Chi Minh City, Vietnam.
Center for Molecular Biomedicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam.
Indian J Plast Surg. 2022 Feb 25;55(1):70-74. doi: 10.1055/s-0041-1733809. eCollection 2022 Feb.
Cleft lip with or without palate (CL/P) is the most common orofacial birth defect. Single-nucleotide polymorphisms (SNPs) in gene (V-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog B) were identified as susceptible to this defect in a genome-wide association study. To further evaluate its role in this birth defect, we conducted this study with the aim of identifying allele frequencies, genotype frequencies, and association of SNPs rs13041247, rs6065259, and rs6072081 of gene with nonsyndromic cleft lip/palate (NCL/P) in Kinh Vietnamese patients. We performed case-control study involved 79 patients with NCL/P and 77 healthy controls. DNAs were extracted from participants' saliva and tetra-amplification refractory mutation system polymerase chain reaction (tetra-ARMS PCR) was used for genotyping SNPs. SNPs of gene were genotyped using the Tetra-ARMS PCR method. We found that genotype CT of rs13041247 was associated with an increased risk of NCL/P in Kinh Vietnamese (odds ratio [OR ] = 1.63, 95% confidence interval [CI] = 0.83-3.19, = 0.17). The G allele genotypes of SNP rs6072081 increase high risk for the malformation, statistically significant result (OR = 7.06, 95% CI = 2.13-23.42, < 0.001). There is no clear association between rs6065259 and CL/P (OR = 0.75, 95% CI = 0.22-2.50, = 0.32; OR = 1.53, 95% CI = 0.79-2.97, = 0.32). When the patients were divided into the phenotypic subgroups, there was a similar significant trend between the patients and controls for all SNPs. Our study provides further evidence of role of gene variations with NCL/P defect in Kinh Vietnamese.
唇裂伴或不伴腭裂（CL/P）是最常见的口腔面部出生缺陷。在一项全基因组关联研究中，基因（V-Maf禽肌肉腱膜纤维肉瘤癌基因同源物B）中的单核苷酸多态性（SNP）被确定为易患这种缺陷。为了进一步评估其在这种出生缺陷中的作用，我们开展了本研究，目的是确定rs13041247、rs6065259和rs6072081这三个基因SNP在京族越南患者非综合征性唇裂/腭裂（NCL/P）中的等位基因频率、基因型频率及关联性。
我们进行了病例对照研究，纳入79例NCL/P患者和77例健康对照。从参与者的唾液中提取DNA，并使用四引物扩增阻滞突变系统聚合酶链反应（tetra-ARMS PCR）对SNP进行基因分型。
使用Tetra-ARMS PCR方法对基因的SNP进行基因分型。我们发现，rs13041247的CT基因型与京族越南人患NCL/P的风险增加相关（优势比[OR]=1.63，95%置信区间[CI]=0.83 - 3.19，P=0.17）。SNP rs6072081的G等位基因基因型增加了畸形的高风险，结果具有统计学意义（OR=7.06，95%CI=2.13 - 23.42，P<0.001）。rs6065259与CL/P之间没有明显关联（OR=0.75，95%CI=0.22 - 2.50，P=0.32；OR=1.53，95%CI=0.79 - 2.97，P=0.32）。当将患者分为表型亚组时，所有SNP在患者和对照之间都有类似的显著趋势。
我们的研究进一步证明了基因变异在京族越南人NCL/P缺陷中的作用。
