SNPs at TP63 gene was specifically associated with right-side cleft lip in Han Chinese population.

Bin Yin, Jia-Yu Shi, Yan-Song Lin, Bing Shi, Zhong-Lin Jia

Oral diseases 2021 Apr

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Non-syndromic cleft lip with or without palate is one of the most common birth malformations. TP63 and GREM1 were recently reported to be associated with NSCL/P. However, there were few studies focused on their associations in non-syndromic cleft lip only (NSCLO). Initial screening and replication in large cohorts were used to locate the susceptible SNPs of TP63 and GREM1. Firstly, variations were screened among 192 NSCLO cases by the Sanger sequencing. Then, we selected five associated SNPs in initial screening phase and replicated among 1,006 NSCLO cases and 1,823 normal controls. Initial chi-square test showed that rs7653848, rs7624324, rs6790167, and rs1345186 in TP63 and rs2280738 in GREM1 achieved statistical significance (p < .05); the subsequent replication analysis showed that rs1345186 was specifically significant in right-side cleft lip (RCL; p = .017, OR = 1.33, and 95% CI: 1.05-1.69). This study firstly used the subphenotype of cleft lip samples to verify the association between TP63 and GREM1, which indicated that TP63 is a promising susceptible gene for RCL in Chinese population. And further confirmed the different etiology in the right-sided cleft lip, left-sided cleft lip, and bilateral cleft lip of NSCLO. This will give new reference for the future research and genetic counseling. © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. All rights reserved.

Citation

Bin Yin, Jia-Yu Shi, Yan-Song Lin, Bing Shi, Zhong-Lin Jia. SNPs at TP63 gene was specifically associated with right-side cleft lip in Han Chinese population. Oral diseases. 2021 Apr;27(3):559-566