Saket Mitra, Saliminejad Kioomars, Kamali Koorosh, Moghadam Fatemeh Aghakhani, Anvar Nazanin Esmaeili, Khorram Khorshid Hamid Reza
Department of Genetics, Islamic Azad University, Damghan Branch, Damghan, Iran.
Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
Arch Oral Biol. 2016 Dec;72:134-137. doi: 10.1016/j.archoralbio.2016.08.019. Epub 2016 Aug 24.
Non-syndromic cleft lip with or without cleft palate (CL/P) is one of the most common congenital anomalies and arises from the interaction of environmental and genetic factors. The objective of this study was to investigate the association between the BMP2 (bone morphogenetic protein 2) and BMP4 (bone morphogenetic protein 4) polymorphisms with non-syndromic CL/P to clarify the potential role of these genes in the etiology of CL/P in Iranian population.
The allelic and genotypic frequencies of BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms were determined in 107 unrelated Iranian subjects with non-syndromic CL/P and 186 control subjects using PCR and RFLP methods, and the results were compared with healthy controls. A p-value of <0.05 was considered statistically significant.
The BMP2 rs235768 AT genotype was significantly higher (P=0.009, OR=3, 95% CI=1.3-7.0) in the CL/P (59.8%) than the control group (33.3%). Similarly, the BMP4 rs17563 TC genotype were significantly higher (P=0.008, OR=3.7, 95% CI=1.4-9.9) in the CL/P (70.0%) than the control group (44.6%).
The BMP2 rs235768 A>T and BMP4 rs17563 T>C polymorphisms could be considered as the risk factor for non-syndromic CL/P in Iranian population.
非综合征性唇裂伴或不伴腭裂（CL/P）是最常见的先天性畸形之一，由环境和遗传因素相互作用引起。本研究的目的是调查骨形态发生蛋白2（BMP2）和骨形态发生蛋白4（BMP4）基因多态性与非综合征性CL/P之间的关联，以阐明这些基因在伊朗人群CL/P病因学中的潜在作用。
采用聚合酶链反应（PCR）和限制性片段长度多态性（RFLP）方法，对107例无亲缘关系的伊朗非综合征性CL/P患者和186例对照者进行BMP2 rs235768 A>T和BMP4 rs17563 T>C基因多态性的等位基因和基因型频率测定，并将结果与健康对照进行比较。p值<0.05被认为具有统计学意义。
CL/P组（59.8%）的BMP2 rs235768 AT基因型显著高于对照组（33.3%）（P=0.009，OR=3，95%CI=1.3-7.0）。同样，CL/P组（70.0%）的BMP4 rs17563 TC基因型显著高于对照组（44.6%）（P=0.008，OR=3.7，95%CI=1.4-9.9）。
BMP2 rs235768 A>T和BMP4 rs17563 T>C基因多态性可能是伊朗人群非综合征性CL/P的危险因素。
