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Genetic variants of microRNA processing genes and risk of non‐syndromic orofacial clefts
Author(s) -
Xu M,
Ma L,
Lou S,
Du Y,
Yin X,
Zhang C,
Fan L,
Wang H,
Wang Z,
Zhang W,
Wang L,
Pan Y
Publication year - 2018
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/odi.12741
Subject(s) - drosha , snp , haplotype , single nucleotide polymorphism , craniofacial , microrna , genetics , case control study , medicine , gene , biology , bioinformatics , genotype , rna , rna interference
Objective MicroRNA (miRNA) processing genes play important roles in the craniofacial development. The aim of this study was to explore the associations between single nucleotide polymorphisms ( SNP s) of mi RNA processing genes with the risk of non‐syndromic orofacial clefts ( NSOC ). Methods We genotyped 12 potentially functional SNP s from seven mi RNA processing genes ( GEMIN 3 , DROSHA , DGCR 8 , GEMIN 4 , PIWIL 1 , XPO 5, and DICER ) in a case–control study of 602 NSOC cases and 605 controls. Results Two SNP s were associated with the susceptibility of CL /P: rs10719 in DROSHA led to an increased risk of cleft lip with or without palate ( CL /P) ( GA / AA : p = .024, OR = 1.33, 95% CI = [1.04, 1.70]; GG + GA / AA : p = .037, OR = 1.29, 95% CI = [1.02, 1.63]), while rs493760 in DROSHA ( CC / TT : p = .049, OR = 0.58, 95% CI = [0.34, 0.99]) could reduce the risk of CL /P. In addition, rs10719 (A)‐rs493760 (C) haplotype contributed to a decreased risk of CL /P ( OR = 0.77, 95% CI = [0.63, 0.94]), whereas the rs10719 (G)‐rs493760 (C) haplotype contributed to the increased risk of cleft palate only ( CPO ) (OR = 2.70, 95% CI = [1.15, 6.35]). However, there was no difference observed in these SNP s after the Bonferroni correction. Conclusion Taken together, our results provided the potential evidence that rs10719 and rs493760 might contribute to the risk of CL /P and suggested potential genetic basis and mechanisms of CL /P. The lack of association between these SNP s and CPO might be due to the limited sample size of CPO subgroup.