Soleymani Masoumeh, Ebadifar Asghar, Khosravi Maryam, Esmaeilzadeh Emran, Khorram Khorshid Hamid Reza
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Dentofacial Deformities Research Center, Research Institute of Dental Sciences, Department of Orthodontics, Faculty of Dentistry, Shahid Behehsti University of Medical Sciences, Tehran, Iran.
Avicenna J Med Biotechnol. 2022 Apr-Jun;14(2):181-185. doi: 10.18502/ajmb.v14i2.8885.
Non-syndromic cleft lip occurs by the interaction of environmental and genetic factors. The purpose of the current study was to analyze the association of Single Nucleotide Polymorphisms (SNPs) in and NSCL/P in an Iranian population.
A group of 105 children with NSCL/P and 185 normal controls were included in the current study. Genotyping of rs2013162 and rs2235375 was performed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method.
A substantial association of AA and CA genotypes in rs2013162 with the risk of NSCL/P (AA . CC; OR=2.36; 95%CI [1.05-5.29], p=0.004; and CA . CC; OR=0.47; 95%CI [0.28-0.79], p=0.018) was found. However, there were no important associations between A allele and risk of NSCL/P (p=0.980). According to logistic regression analysis results, subjects with GG genotype and G allele in rs2235375 polymorphism had increased risk of NSCL/P.
The polymorphisms are associated with the susceptibility to NSCL/P in Iranian population.
非综合征性唇裂由环境因素和遗传因素相互作用所致。本研究旨在分析伊朗人群中某些基因的单核苷酸多态性（SNPs）与非综合征性唇裂/腭裂（NSCL/P）的相关性。
本研究纳入了105例NSCL/P患儿和185例正常对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对rs2013162和rs2235375进行基因分型。
发现rs2013162中AA和CA基因型与NSCL/P风险存在显著相关性（AA对CC；OR=2.36；95%CI[1.05 - 5.29]，p=0.004；CA对CC；OR=0.47；95%CI[0.28 - 0.79]，p=0.018）。然而，A等位基因与NSCL/P风险之间无重要相关性（p=0.980）。根据逻辑回归分析结果，rs2235375多态性中具有GG基因型和G等位基因的受试者患NSCL/P的风险增加。
某些基因多态性与伊朗人群中NSCL/P的易感性相关。
