RGD Reference Report - Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. - Rat Genome Database

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Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children.

Authors: Lin, Jian-Yan  Chen, Yong-Juan  Huang, Yuan-lu  Tang, Guang-Peng  Zhang, Li  Deng, Bing  Li, Ming  Ma, Hong  Luan, Rong-Sheng 
Citation: Lin JY, etal., DNA Cell Biol. 2008 Nov;27(11):601-5. doi: 10.1089/dna.2008.0777.
RGD ID: 13442495
Pubmed: PMID:18771417   (View Abstract at PubMed)
DOI: DOI:10.1089/dna.2008.0777   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cleft lip susceptibilityIAGP 13442495DNA:polymorphism:cds:p.V152A(human)RGD 
cleft lip susceptibilityISOBMP4 (Homo sapiens)13442495; 13442495DNA:polymorphism:cds:p.V152A(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Bmp4  (bone morphogenetic protein 4)

Genes (Mus musculus)
Bmp4  (bone morphogenetic protein 4)

Genes (Homo sapiens)
BMP4  (bone morphogenetic protein 4)


Additional Information