NDLI: Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies.

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Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies.

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Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Wang, Meilin Pan, Yongchu Zhang, Zhengdong Wang, Lin
Description	Country affiliation: China Author Affiliation: Wang M ( Institute of Stomatology, Nanjing Medical University, Nanjing, China.)
Abstract	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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	12
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-12-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosomes, Human, Pair 8 Cleft Lip Genetics Cleft Palate Interferon Regulatory Factors Alleles Case-control Studies Genetic Predisposition To Disease Genotype Humans Polymorphism, Genetic Journal Article Meta-analysis Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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