The association study of nonsyndromic cleft lip with or without cleft palate identified risk variants of the GLI3 gene in a Chinese population
YIRUI WANG YIMIN SUN YONGQING HUANG YONGCHU PAN BING SHI JIAN MA LAN MA FEIFEI LAN YUXI ZHOU JIAYU SHI JINFANG ZHU HONGBING JIANG LEI ZHANG XUE XIAO MIN JIANG AIHUA YIN LILI YU LIN WANG JING CHENG YINXUE YANG
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect due to abnormal orofacial development. Previous studies report abnormal sonic hedgehog (SHH) signalling activity during NSCL/P pathogenesis and propose several genes in the SHH pathway as candidate risk genes. As such, we focussed on GLI3, a downstream modulator of the SHH pathway. In the present study,we genotyped 34 tag SNPs covering GLI3 and performed association analysis with NSCL/P in 504 cases and 455 healthy controls. Our preliminary results identified risk variants of GLI3 that are associated with NSCL/P susceptibility in a Chinese population. In particular, rs3801161 and its haplotypes rs3801161–rs7785287 displayed significant association with NSCL/Pand survived Bonferroni correction for multiple comparisons. The robustness of the association between GLI3 and NSCL/P is worth further examination in the future across different populations.
YIRUI WANG1 2 3 YIMIN SUN1 2 3 4 YONGQING HUANG5 6 7 YONGCHU PAN8 BING SHI9 10 JIAN MA5 6 7 LAN MA8 FEIFEI LAN11 12 13 YUXI ZHOU2 3 JIAYU SHI14 JINFANG ZHU5 6 HONGBING JIANG8 LEI ZHANG2 3 XUE XIAO2 3 MIN JIANG6 7 AIHUA YIN11 12 13 LILI YU5 6 7 LIN WANG8 JING CHENG1 2 3 YINXUE YANG6 7
Volume 99, 2020
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