Meilin Wang and Yongchu Pan contributed equally to this work.
Article first published online: 19 NOV 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 12, pages 3080–3086, December 2012
How to Cite
Wang, M., Pan, Y., Zhang, Z. and Wang, L. (2012), Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies. Am. J. Med. Genet., 158A: 3080–3086. doi: 10.1002/ajmg.a.35634
How to Cite this Article: Wang M, Pan Y, Zhang Z, Wang L. 2012. Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies. Am J Med Genet Part A 158A: 3080–3086.
- Issue published online: 22 NOV 2012
- Article first published online: 19 NOV 2012
- Manuscript Accepted: 25 JUL 2012
- Manuscript Received: 27 SEP 2011
- National Natural Science Foundation of China (partial support). Grant Numbers: 30973361, 81000457, 81170981, 81102089 81230022, 81200808
- China Postdoctoral Science Foundation. Grant Number: 20100481164
- China Postdoctoral Science Foundation Special Funded Project. Grant Number: 201104537
- Jiangsu Planned Projects for Postdoctoral Research Funds. Grant Number: 1101026C
- Project of State Key Laboratory of Oral Diseases. Grant Number: SKLODSCU2009KF05
- National High-tech R&D Program of China (863 Program). Grant Number: 2012AA020101
- Priority Academic Program Development of Jiangsu Higher Education Institutions
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common craniofacial malformation in humans. Three polymorphisms, rs2235371 and rs642961 in interferon regulatory factor 6 (IRF6), rs987525 on 8q24, have been shown to be associated with NSCL/P risk in several studies. However, the magnitudes of the association varied between studies. We therefore performed a meta-analysis to investigate this relationship. Two authors independently extracted information on the characteristics of the eligible studies. Either a fixed- or a random-effects model was used to calculate the overall combined risk estimates. Overall, 20 published case–control studies were included in the meta-analysis. We found that rs2235371 A allele had a significantly decreased risk (OR: 0.73, 95% CI: 0.61–0.88), whereas rs642961 A allele had a significantly increased risk of NSCL/P (OR: 1.44, 95% CI: 1.30–1.59), compared with the G allele. For 8q24 rs987525, the A allele was associated with a significantly increased risk of NSCL/P, compared with the C allele (OR: 1.71, 95% CI: 1.40–2.09). Furthermore, in the stratified analysis by ethnicity and types of NSCL/P, significant associations were still observed in the subgroups of ethnicity and types. Taken together, the results suggest that the IRF6 rs2235371, rs642961, and 8q24 rs987525 polymorphisms are associated with NSCL/P risk. © 2012 Wiley Periodicals, Inc.