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• W2043332006 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." @default.
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• W2043332006 date "2008-11-01" @default.
• W2043332006 modified "2023-09-27" @default.
• W2043332006 title "Association of Bone Morphogenetic Protein 4 Gene Polymorphisms with Nonsyndromic Cleft Lip with or without Cleft Palate in Chinese Children" @default.
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• W2043332006 doi "https://doi.org/10.1089/dna.2008.0777" @default.
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