Evidence of the involvement of the DHFR gene in nonsyndromic cleft lip with or without cleft palate |
| |
| Affiliation: | 1. Department of Experimental, Diagnostic and Specialty Medicine, University di Bologna, Via Belmeloro 8, 40126 Bologna, Italy;2. Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Via Luigi Borsari, 46, 44121 Ferrara, Italy;1. Department of Ecology, Faculty of Science, Charles University Prague, Viničná 7, CZ-128 44 Prague, Czech Republic;2. Department of Invasion Ecology, Institute of Botany Academy of Sciences of the Czech Republic, CZ-252 43 Průhonice, Czech Republic;3. Ladybird Research Laboratory, Department of Zoology, University of Lucknow, Lucknow 226007, India;4. Department of Biodiversity Research, Global Change Research Centre AS CR, Na sádkách 7, 370 05 České Budějovice, Czech Republic;5. School of Biological Sciences, University of East Anglia, Norwich NR4 7TJ, UK;1. Department of Electrical Engineering, Islamic Azad University, Bushehr Branch, Bushehr, Iran;2. Photonics and Nanocrystal Research Lab (PNRL Membership), Tabriz University, Tabriz, Iran;1. Department of Orthodontics, School of Stomatology, China Medical University, Shenyang 110002, PR China;2. Department of Oral and Maxillofacial Surgery, School of Stomatology, China Medical University, Shenyang 110002, PR China |
| |
| Abstract: | Studies aimed at evidencing genetic causes for neural tube defect (NTD) occurrence have often provided the inspiration for orofacial cleft aetiology investigations. The correlation between the two congenital malformations is provided by the similar incidence timing and the involvement of structures localized in the midline of the embryo. This connection is corroborated by the existence of a number of genes involved in both malformations. In this article, we considered the dihydrofolate reductase (DHFR) gene, previously seen implicated in NTDs, as a candidate for cleft lip with or without cleft palate (CL/P) risk. Four SNPs mapping on the DHFR gene were genotyped for 400 Italian CL/P triads, using TaqMan® approach. The rs1677693 provided evidence of association, even if at borderline level (P value 0.049). In particular, the variant allele seems to have a protective effect OR = 0.80 (95% C.I. 0.64–0.99). Moreover, the combination of rs1677693(A)-rs1650723(G) alleles showed a significant association OR 0.64 (95% C.I. 0.47–0.86) (P value = 0.006). This represents the first attempt to demonstrate a role for DHFR in CL/P aetiology, howbeit the study of such gene deserves a deepening. |
| |
| Keywords: | Association Cleft lip with or without cleft palate Polymorphism |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
