TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China

Lu, Yongping; Liu, Qiang; Wang, Xu; Li, Zengjian; Li, Xuefu; Zhao, Ning; Liu, Wei; Sui, Yu; Ma, Chao; Feng, Wenhua; Li, Jianxin

doi:10.1371/journal.pone.0070754

Cited by 26 publications

(21 citation statements)

References 44 publications

(45 reference statements)

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“…Following paper selection by two independent researchers, 15 studies were then thoroughly reviewed. Of these, five studies were excluded, among which two had no control groups 25, 26 , one no relation to MTFHD1 27 , and the other two presented data previously published 28, 29 . Finally, 10 studies that met the criteria were included in the systematic review ( Table 1) 10– 12, 30– 36 and mathematic data from eight studies were used for reference to carry out the meta-analysis 10– 12, 31– 33, 35, 36 .…”

Section: Resultsmentioning

confidence: 99%

Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis

Zhao

Zhang

et al. 2016

F1000Res

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Aims: To investigate the association between the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) polymorphism rs 2236225 (c.1958G>A) and susceptibility to non-syndromic cleft of the lip and/or palate (NSCL/P). Methods: An extensive literature review has been conducted using PubMed, Web of Science, Cochrane Library, Google Scholar, the China National Knowledge Infrastructure (CNKI), and Wanfang Database for eligible researches. The terms for searching were “cleft lip OR cleft palate OR CLP OR CL/P OR oral facial cleft OR OFC” AND “methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 OR methenyltetrahydrofolate cyclohydrolase formyltetrahydrofolate synthetase OR MTHFD1 OR MTHFD”. Two independent researchers screened, evaluated and extracted the data of included studies. The pooled odds ratios (OR) with 95% confidence intervals (95% CI) were calculated by random effects model under five gene models. Subgroup, sensitivity analysis and publication bias were also assessed. Results: Ten case-control studies have been included in the systematic review and eight studies have been considered for the meta-analysis. Overall, the MTHFD1 polymorphism rs2236225 and the risk of NSCL/P showed pooled OR (95% CI) of 1.02 (0.86-1.21) under allelic model. A higher degree of heterogeneity was observed in Asian countries (I 2 = 75.6%) compared to non-Asian countries (I 2 = 48.9%). Similar consequence appeared in the subgroup of children (I 2 = 78.6%) compared with that of mothers (I 2 = 0.0%). There was no significant difference in the publication bias by the Begg’s funnel plot (P = 0.711) and Egger’s regression test (P = 0.746). Conclusion: Our assessment suggested there was no significant association between the MTHFD1 polymorphism rs 2236225 (c.1958G>A) and the susceptibility to NSCL/P. Further investigations using a large sample size and a more advanced technique should be adopted to reach a more precise conclusion in the future.

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Section: Resultsmentioning

confidence: 99%

Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis

Zhao

Zhang

et al. 2016

F1000Res

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“…As previously described by Lu et al (2013), 236 unrelated patients with NSCL/P, including 128 elementary families (185 mothers and 154 fathers), and 400 control individuals were recruited from the Department of Oral and Maxillofacial Surgery of the Affiliated Stomatological Hospital of China Medical University, northeast China, between 2008 and 2012. All patients were subjected to a pre-operative examination and questionnaire; photographs were taken to record the shape of the lips, alveolar ridge, and hard and soft palates, in order to help with a diagnosis of cleft lip and palate.…”

Section: Patients and Familiesmentioning

confidence: 99%

Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population

Yp¹,

Wt²,

Q³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect. Several WNT genes are involved in craniofacial embryogenesis, and therefore may play an important role in the etiology of NSCL/P. Two SNPs (rs3809857 and rs9890413) in the WNT3 gene were subjected to case-control and case-parent analysis by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 236 unrelated patients with NSCL/P, including 128 elementary families (185 mothers and 154 fathers), and 400 control individuals from northeast China. The rs3809857 SNP, under the assumption of a dominant model, was found to induce a 2-fold lower risk of NSCL/P OR GG vs GT + TT = 0.605, 95%CI = 0.436-0.839, P = 0.003). Moreover, the family-based association test revealed an under- 12647Variations in WNT3 are associated with orofacial clefts ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 12646-12653 (2015) transmission for the minor allele T. On the other hand, we observed a significant association in the case-control and case-parent analysis of the SNP rs9890413. In addition, the P values for the haplotype of rs3809857-rs9890413 were observed to be statistically significant (P = 0.004). In conclusion, our study confirmed the association between the WNT3 variant and NSCL/P in the population tested.

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“…Nonetheless, IRF6-mediated molecular pathways involved in lip and palate development are poorly characterized. Disrupting Irf6 function in mice results in clefting phenotypes (Ingraham et al, 2006), and many studies have provided evidence suggesting a role for Irf6 in the etiology of CLP (Lu et al, 2013;Song et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate

Smane

Pilmane

2015

Int. J. Morphol.

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TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China

Cited by 26 publications

References 44 publications

Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis

Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis

Variations in WNT3 gene are associated with incidence of non-syndromic cleft lip with or without cleft palate in a northeast Chinese population

IRF6, RYK, and PAX9 Expression in Facial Tissue of Children with Cleft Palate

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