伊朗婴儿群体中变异与非综合征性唇腭裂风险的关联
Association of the Variations and the Risk of Non-Syndromic Cleft Lip and Palate in a Population of Iranian Infants.
作者信息
Farrokhi Karibozorg Homa, Masoudian Nahid, Saliminejad Kioomars, Ebadifar Asghar, Kamali Koorosh, Khorram Khorshid Hamid Reza
机构信息
Department of Biochemistry, Islamic Azad University, Damghan Branch, Damghan, Iran.
Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
出版信息
Avicenna J Med Biotechnol. 2018 Jul-Sep;10(3):168-172.
BACKGROUND
Nonsyndromic cleft lip and/or palate (NSCL/P) is the most common orofacial birth defect, often attributed to ethnic and environmental differences. Up to now, linkage analyses and genome-wide association studies have identified several genomic susceptibility regions for NSCL/P. The genes including are strong candidates for NSCL/P, since they are involved in regulating mid-face development and upper lip fusion. This study tested association of the polymorphisms, rs-3809857 G/T and rs9890413 G/A, with the risk of NSCL/P in a population of Iranian infants.
METHODS
The allelic and genotypic frequencies for each participant were determined in 113 unrelated Iranian subjects with NSCL/P and 220 control subjects using PCR and restriction fragment length polymorphism (RFLP) methods. A p-value of ≤0.05 was considered statistically significant.
RESULTS
The rs3809857 GT genotype was significantly lower (p=0.039, OR=0.55, 95% CI=0.30-0.97) in the NSCL/P (21.2%) than the control group (30.42%). For the rs9890413 G/A polymorphism, neither genotype nor allele frequencies were significantly different between the case and control groups.
CONCLUSION
Our results indicated that the rs3809857 GT genotype may have a protective effect against NSCL/P in Iranian population.
背景
非综合征性唇裂和/或腭裂（NSCL/P）是最常见的口腔面部出生缺陷，通常归因于种族和环境差异。到目前为止，连锁分析和全基因组关联研究已经确定了几个NSCL/P的基因组易感区域。包括[具体基因]在内的基因是NSCL/P的有力候选基因，因为它们参与调节面部中部发育和上唇融合。本研究在一群伊朗婴儿中测试了[具体基因]多态性rs - 3809857 G/T和rs9890413 G/A与NSCL/P风险的关联。
方法
使用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）方法，在113名患有NSCL/P的无关伊朗受试者和220名对照受试者中确定了每个参与者的等位基因和基因型频率。p值≤0.05被认为具有统计学意义。
结果
NSCL/P组（21.2%）中rs3809857 GT基因型显著低于对照组（30.42%）（p = 0.039，OR = 0.55，95% CI = 0.30 - 0.97）。对于rs9890413 G/A多态性，病例组和对照组之间的基因型和等位基因频率均无显著差异。
结论
我们的结果表明，rs3809857 GT基因型可能对伊朗人群的NSCL/P具有保护作用。
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