• Medicine · Feb 2017

    Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population.

    • Hongquan Song, Xiaotong Wang, Jiaqun Yan, Na Mi, Xiaohui Jiao, Yanru Hao, Wei Zhang, and Yuwei Gao.
    • Department of Oral Maxillofacial Surgery, the First Affiliated Hospital, Harbin Medical University Department of Stomatology, Harbin Medical University Cancer Hospital Department of Endodontics, the First Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang Department of Stomatology, Plastic surgery hospital, Chinese Academy of Medical Science and Peking Union Medical College, Shijingshan District, Beijing Department of Stomatology, The Fourth Affiliated Hospital, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China.
    • Medicine (Baltimore). 2017 Feb 1; 96 (5): e5574e5574.

    BackgroundNonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation among live births, and depends on race and ethnic background. The CDH1 gene plays a vital role in orofacial development. Our research was conducted to examine the association between 3 single-nucleotide polymorphisms in the CDH1 gene and NSCL/P.MethodsThree single-nucleotide polymorphisms (rs16260, rs9929218, and rs1801552) of the CDH1 gene were genotyped using the Snapshot mini-sequencing technique in 331 patients with NSCL/P and 271 controls from the northern Chinese Han population.ResultsThe investigation indicated that presence of the CDH1 rs1801552 TT genotype under the assumption of a recessive model is related to the decreased risk for NSCL/P (odds ratio 0.53, 95% confidence interval 0.34-0.81, P = 0.003). The results were still significant after the Bonferroni correction for multiple comparisons. However, nonsignificant differences in rs16260 and rs9929218 were found between cases and controls.ConclusionOur study demonstrates that the CDH1 polymorphisms were significantly associated with the risk of NSCL/P in the northern Chinese Han population. We provide further evidence regarding the role of CDH1 variations in the development of NSCL/P in a northern Chinese Han population.

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