Association of genetic polymorphisms of VAX1, MAFB, and NTN1 with nonsyndromic cleft lip with or without cleft palate in Chinese population.

Autor: Peng L; Department of Orthodontics, Shanghai Key Laboratory of Stomatology, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Niu Z; Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China. niuzhm@chgc.sh.cn., Chen J; Department of Orthodontics, Shanghai Key Laboratory of Stomatology, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wan T; Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology, Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wu D; Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology, Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yang Y; Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology, Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wang G; Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology, Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China., Yang L; Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China., Huang W; Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China. weihuang@chgc.sh.cn., Chen Z; Department of Orthodontics, Shanghai Key Laboratory of Stomatology, Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China. orthochen@yeah.net.
Jazyk: angličtina
Zdroj: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2022 Mar; Vol. 297 (2), pp. 553-559. Date of Electronic Publication: 2022 Feb 25.
DOI: 10.1007/s00438-022-01871-9
Abstrakt: Nonsyndromic cleft lip with or without palate (NSCL/P) is a common birth defect involving genetic factors. We conducted this case-control study to verify the association of ten single-nucleotide polymorphisms (SNPs) of six genes (VAX1, MAFB, PAX7, ABCA4, NTN1, and NOG) with NSCL/P in the Chinese population. The study included 249 NSCL/P patients, 62 nonsyndromic cleft palate only (NSCPO) patients and 480 controls. Three loci, namely, VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774, were associated with NSCL/P (Bonferroni method adjusted p values were 0.020, 0.00031, and 0.030, respectively). We also found that the disease risk of individuals carrying both VAX1 rs7078160 and NTN1 rs4791774 was higher than those carrying only one of them (p = 4.50 × 10 -4 and 6.03 × 10 -3 , respectively). SNPs of genes VAX1 rs7078160, MAFB rs11696257, and NTN1 rs4791774 increased NSCL/P risk in the Chinese population.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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