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Xu W.,Key Laboratory of Reproductive Health of Liaoning | Han W.,Key Laboratory of Reproductive Health of Liaoning | Lu Y.,Key Laboratory of Reproductive Health of Liaoning | Yao W.,Shenyang University | And 4 more authors.
Cleft Palate-Craniofacial Journal | Year: 2014

Objective: To investigate the association between the TGFA:c.3851T > C (rs11466285) and TGFA:c.3822G > A (rs3771523) single-nucleotide polymorphisms (SNPs) and nonsyndromic cleft lip and/or cleft palate (CL/P) with microarray in north China. Design and Setting: Test association by both case-control and case-parent analysis. Subjects and Methods: Two SNPs of 150 controls, 166 cases, and 271 of their parents were genotyped using microarray based on the allele-specific primer extension, and chi-square statistics and family-based association test analyses were performed. Results: Both sequencing and microarray analysis produced identical results. We found significant evidence of overtransmission of the C allele of c.3851T > C and the A allele of c.3822G > A in case-parent trios for CL/P but not for cleft palate only (CP). Significant differences for both genotypic and allelic distributions between cases and controls were found at c.3822G > A and c.3851T > C for CL/P but not for CP. The TGFA [C; G] and [T; A] haplotypes showed significant overtransmission. Conclusions: These results support that two SNPs are associated with nonsyndromic CL/P but not for CP in northern Chinese populations. It was demonstrated that this microarray is suitable to test SNPs associated with nonsyndromic CL/P. © Copyright 2014 American Cleft Palate-Craniofacial Association.

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