title: Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children.
abstract: Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital anomalies in humans. The pathogenesis of nsCL/P involves both genetic and environmental factors. On the basis of linkage data suggesting that 14q21-24 is one of the chromosomal regions that affects nsCL/P and data locating the BMP4 gene to 14q22-23, we performed a case-control study to evaluate whether BMP4 538T/C polymorphism, resulting in an amino acid change of Val/Ala (V152A) in the polypeptide, is associated with nsCL/P in a Chinese children population. Genotypes of 184 patients with nsCL/P and 205 controls were detected using a PCR-RFLP strategy. The results showed significant differences in the genotype and allele distribution of 538T/C polymorphisms of the BMP4 gene among the cases and controls. The 538C allele carriers were associated with a significantly increased risk of nsCL/P as compared with the noncarriers (odds ratio = 1.52; 95% confidence interval, 1.13-2.03; p = 0.005). Hence, our results support the hypothesis that this polymorphism contributes to risk of nsCL/P, which suggests that BMP4 538T/C polymorphisms could be used as genetic susceptibility markers of nsCL/P.
authors.affiliation: Department of Epidemiology, West China School of Public Health, Sichuan University, Chengdu, Sichuan, China.
authors.forename: Jian-Yan
authors.initials: JY
authors.lastname: Lin
authors.forename: Yong-Juan
authors.initials: YJ
authors.lastname: Chen
authors.forename: Yuan-lu
authors.initials: YL
authors.lastname: Huang
authors.forename: Guang-Peng
authors.initials: GP
authors.lastname: Tang
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Bing
authors.initials: B
authors.lastname: Deng
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Hong
authors.initials: H
authors.lastname: Ma
authors.forename: Rong-Sheng
authors.initials: RS
authors.lastname: Luan
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D055415:Bone Morphogenetic Protein 4; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005145:Face / Q000196:embryology; D006801:Humans; D007223:Infant; D020641:Polymorphism, Single Nucleotide
chemical_list: C525809:BMP4 protein, human; D055415:Bone Morphogenetic Protein 4; D019485:Bone Morphogenetic Proteins