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


METHODS
Three 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.


RESULTS
The 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.


CONCLUSIONS
Our 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.
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.
Hongquan
H
Song
Xiaotong
X
Wang
Jiaqun
J
Yan
Na
N
Mi
Xiaohui
X
Jiao
Yanru
Y
Hao
Wei
W
Zhang
Yuwei
Y
Gao
D015703:Antigens, CD; D044466:Asian People / Q000235:genetics*; D015820:Cadherins / Q000235:genetics*; D016022:Case-Control Studies; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins