Association of IRF6 rs2235371 Polymorphism with Non-Syndromic Cleft Lip/Palate: A Meta-analysis

2021 ◽  
Author(s):  
Hossein Neamatzadeh ◽  
Masoud Zare-Shehneh ◽  
Mahta Mazaheri ◽  
Karim Daliri ◽  
Elahe Akbarian ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Web Of Science ◽  
Meta Analysis ◽  
Pooled Analysis ◽  
Recessive Model ◽  
Published Data ◽  
Regulatory Factor ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
Comprehensive Search

Background: The previous published data on the association between interferon regulatory factor 6 (IRF6) polymorphisms and non-syndromic Cleft Lip/Palate (NSCL ± P) risk remained inconclusive. The aim of this study was to conduct a meta-analysis to further assess the associations. Methods: A comprehensive search in PubMed, EMBASE, Web of Science, and CNKI for all eligible studies up July 2021. Results: A total of 23 studies with 6,161 cases and 8,919 controls were selected for this meta-analysis. Overall pooled analysis suggest a significant association between IRF6 rs2235371 polymorphism and CL±P risk under all the five genetic models, i.e., allele (A vs. G: OR=0.754, 95% CI 0.628-0.905, P=0.002), homozygote (AA vs. GG: OR=0.621 95% 0.405-0.953, P=0.029), heterozygote (AC vs. GG: OR=0.619, 95% CI 0.485-0.791, P≤0.001), dominant (AA+AG vs. GG: OR=0.550, 95% CI 0.381-0.794, P=0.001) and recessive model (AA vs. AG+GG: OR=0.583, 95% CI 0.423-0.804, P=0.001). Subgroup analysis by ethnicity showed that rs2235371 was associated with NSCL±P risk in Asians. Conclusion: This meta-analysis provides strong evidences that IRF6 rs2235371 might be associated with risk of NSCL ± P.

scholarly journals Mutations in P63 and IRF-6 Present with Overlapping Craniofacial Defects: A study from Lebanon

2019 ◽  
pp. 1-3
Author(s):  
Mazen Kurban ◽  
Edgar Jabbour ◽  
Lamiaa Hamie ◽  
Mazen Kurban ◽  
Pamela Kassabian
Keyword(s):  
Transcription Factors ◽  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Craniofacial Development ◽  
Regulatory Factor ◽  
Van Der Woude Syndrome ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
Exon 9 ◽  
Craniofacial Defects

Interferon Regulatory Factor 6 (IRF-6) and p63 are two vital transcription factors implicated in normal craniofacial development. In this report, we present a family with Van Der Woude Syndrome (VWS) with a mutation in exon 9 of IRF-6 gene and a phenotypically overlapping case of Rapp-Hodgkin Syndrome (RHS) resulting from a mutation in the p63 gene. Members from both families presented with congenital lip pits and cleft lip/palate. The RHS case had additional ectodermal features that underscore the upstream nature of p63 in the complex p63-IRF-6 interactive pathway.

scholarly journals Polymorphisms of ATP-binding cassette, sub-family A, member 4 (rs560426 and rs481931) and non-syndromic cleft lip/palate: A systematic review and meta-analysis

2019 ◽  
Author(s):  
Mohammad Moslem Imani ◽  
Mohsen Safaei ◽  
Pia Lopez-Jornet ◽  
Eduardo Pons-Fuster López ◽  
Masoud Sadeghi
Keyword(s):  
Cleft Lip ◽  
Meta Analysis ◽  
Asian Population ◽  
Recessive Model ◽  
Cochrane Library ◽  
Atp Binding ◽  
Crude Odds Ratio ◽  
Asian Ethnicity ◽  
Cleft Lip Palate ◽  
Atp Binding Cassette

Abstract Background A number of gene loci are closely associated with the incidence of non-syndromic cleft lip/palate (NSCL/P). Herein, this meta-analysis assessed the association between ATP-binding cassette, sub-family A, member 4 (ABCA4) polymorphisms (rs560426 and rs481931) and the risk of NSCL/P by reviewing case-control studies.Methods Four databases including Scopus, Cochrane Library, Web of Science, and PubMed were searched for articles published up to December 2018. The Review Manager 5.3 software was used to calculate the crude odds ratio (OR) and 95% confidence interval (CI).Results Of 82 retrieved studies, 12 were analyzed in this meta-analysis (2,859 NSCL/P patients and 3,792 controls for ABCA4 rs560426 polymorphism and 1,333 NSCL/P patients and 1,884 controls for ABCA4 rs481931 polymorphism). There was no significant association between the polymorphisms and the risk of NSCL/P, with the exception of the allelic model (OR=1.13; 95% CI: 1.01, 1.27; p=0.03), the homozygote model (OR=1.53; 95% CI: 1.01, 2.31; p=0.04), and the recessive model (OR=1.30; 95% CI: 1.03, 1.63; p=0.03) in the Asian ethnicity for rs560426 polymorphism.Conclusion The findings confirmed that G allele and GG genotype of rs560426 polymorphism were significantly associated with the risk of NSCL/P in the Asian population, but not for rs481931polymorphism. Also, there was no association between both polymorphisms (rs560426 and rs481931) with the risk of NSCL/P in the Caucasian and the mixed ethnicities, as well as the source of controls. Therefore, ethnicity may play a significant role in this association.

scholarly journals Polymorphisms of ATP-Binding Cassette, Sub-Family A, Member 4 (rs560426 and rs481931) and Non-Syndromic Cleft Lip/Palate: A Meta-Analysis

Life ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 58
Author(s):  
Mohammad Moslem Imani ◽  
Masoud Sadeghi ◽  
Santosh Kumar Tadakamadla ◽  
Annette Brühl ◽  
Dena Sadeghi Bahmani ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Meta Analysis ◽  
Recessive Model ◽  
Cochrane Library ◽  
Atp Binding ◽  
Case Control Studies ◽  
Crude Odds Ratio ◽  
Asian Ethnicity ◽  
Cleft Lip Palate ◽  
Atp Binding Cassette

Background: A number of genes are associated with the incidence of non-syndromic cleft lip/palate (NSCL/P). Studies have shown a significant association between polymorphisms of ATP-binding cassette, sub-family A, member 4 (ABCA4) with the risk of NSCL/P. The present meta-analysis assessed the association between ABCA4 polymorphisms (rs560426 and rs481931) and the NSCL/P risk by reviewing case-control studies. Methods: Four databases (Scopus; Cochrane Library; Web of Science; and PubMed) were searched for articles published up to June 2020. The Review Manager 5.3 software was used to calculate the crude odds ratio (OR) and 95% confidence interval (CI). Both subgroup analyses for ethnicity and source of controls and a meta-regression related to publication year were conducted. Results: Of 94 retrieved studies, 12 were analyzed in this meta-analysis (2859 NSCL/P patients and 3792 controls for ABCA4 rs560426 polymorphism and 1333 NSCL/P patients and 1884 controls for ABCA4 rs481931 polymorphism). Overall, there was no significant association between both polymorphisms and the risk of NSCL/P. However, subgroup analysis demonstrated that there was a higher risk of NSCL/P for specific models: the allelic model (OR = 1.13; p = 0.03), the homozygote model (OR = 1.53; p = 0.04), and the recessive model (OR = 1.30; p = 0.03) in the Asian ethnicity for the rs560426 polymorphism. Conclusion: The findings confirmed that the NSCL/P risk was significantly associated with the G allele and GG genotype of rs560426 polymorphism but not for rs481931 polymorphism. There were no associations between both polymorphisms (rs560426 and rs481931) and the NSCL/P risk in those of European descent and the mixed ethnicities.

scholarly journals IRF6 Genetic Variation and Maternal Smoking During Pregnancy in Cleft Lip/Palate

2021 ◽  
Vol 2 ◽  
Author(s):  
Alexandre R. Vieira ◽  
Mine Koruyucu ◽  
Eyosiyas K. Bekele ◽  
Figen Seymen ◽  
Adriana Modesto
Keyword(s):  
Genetic Variation ◽  
Maternal Smoking ◽  
Cleft Lip ◽  
Published Data ◽  
Smoking During Pregnancy ◽  
Positive History ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
History Of ◽  
Maternal Smoking During Pregnancy

The goal of the present work was to revisit published data to test if genetic variation in interferon regulatory factor 6 (IRF6) is associated with children born with cleft lip with or without cleft palate (CL/P) for cases with positive history of maternal smoking. From the 573 individuals originally studied, this reanalysis focused on 57 who had a positive history of maternal smoking during pregnancy (39 born with CL/P and 18 born without CL/P). Seven IRF6 markers (rs4844880, rs2235371, rs2013162, ra861019, rs2073487, rs642961, and rs658860) were tested for over-transmission of alleles and an alpha of 0.05 was considered statistically significant. All individuals born with CL/P were homozygous for the wild type allele of rs2235371 in comparison to just two individuals born without clefts (p = 0.0000001). For rs861019, individuals born with CL/P were more likely to have the variant allele (p = 0.006). A similar trend was seen for rs642961 (p = 0.09). The results suggest that statistical evidence of over-representation of IRF6 alleles in individuals born with CL/P may be unveiled only when maternal smoking during pregnancy is used as the inclusion criterion in the analysis.

scholarly journals Pooled analysis of T2 Candida for rapid diagnosis of candidiasis

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Dong-Lan Tang ◽  
Xiao Chen ◽  
Chang-Guo Zhu ◽  
Zhong-wei Li ◽  
Yong Xia ◽  
...  
Keyword(s):  
Likelihood Ratio ◽  
Web Of Science ◽  
Meta Analysis ◽  
Positive Likelihood Ratio ◽  
Negative Likelihood Ratio ◽  
Diagnostic Odds Ratio ◽  
Pooled Analysis ◽  
Current Evidence ◽  
Cochrane Library ◽  
Research Subjects

Abstract Background The present meta-analysis examined the diagnostic accuracy of T2 Candida for candidiasis. Methods The literature databases, such as PubMed, Embase, DVIO, Cochrane library, Web of Science, and CNKI, were searched on T2 Candida detection. Results A total of 8 articles, comprising of 2717 research subjects, were included in the study. The pooled sensitivity and specificity were 0.91 (95% confidence interval (CI): 0.88–0.94) and 0.94 95% CI: 0.93–0.95), respectively. The pooled positive likelihood ratio and negative likelihood ratio was 10.16 (95% CI: 2.75–37.50) and 0.08 (95% CI: 0.02–0.35), respectively. The combined diagnostic odds ratio is 133.65 95% CI: 17.21–1037.73), and the AUC of SROC is 0.9702 [(SE = 0.0235), Q* = 0.9201(SE = 0.0381)]. Conclusions The current evidence supported that T2 Candida has high accuracy and sensitivity and is of major clinical significance in the diagnosis of Candida infection.

scholarly journals Methylenetetrahydrofolate reductase C677T polymorphism is not associated with the risk of nonsyndromic cleft lip/palate: An updated meta-analysis

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Mohammad Moslem Imani ◽  
Negin Golchin ◽  
Mohsen Safaei ◽  
Farzad Rezaei ◽  
Hooshyar Abbasi ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Methylenetetrahydrofolate Reductase ◽  
Meta Analysis ◽  
C677t Polymorphism ◽  
Cleft Lip Palate

scholarly journals Staple line oversewing during laparoscopic sleeve gastrectomy

2017 ◽  
Vol 99 (7) ◽  
pp. 509-514 ◽  
Author(s):  
H Wang ◽  
J Lu ◽  
J Feng ◽  
Z Wang
Keyword(s):  
Sleeve Gastrectomy ◽  
Laparoscopic Sleeve Gastrectomy ◽  
Operative Time ◽  
Web Of Science ◽  
Staple Line ◽  
Weighted Mean Difference ◽  
Meta Analysis ◽  
Significant Difference ◽  
Comprehensive Search ◽  
Randomised Controlled

Introduction This meta-analysis was performed to assess the possible benefits of staple line oversewing during laparoscopic sleeve gastrectomy. Methods A comprehensive search up to February 2017 was conducted on PubMed, the Web of Science™ and Embase™. All eligible studies were included, and the outcomes of staple line bleeding and leak, overall complications and operative time were pooled. Results A total of 7 randomised controlled trials involving 845 patients (428 cases and 417 controls) were analysed. There was no significant difference in staple line bleeding (relative risk [RR]: 0.858, 95% confidence interval [CI]: 0.343–2.143, p=0.742), leak (RR: 0.650, 95% CI: 0.257–1.644, p=0.363) or overall complications (RR: 0.913, 95% CI: 0.621–1.342, p=0.644) between the oversewing group and the patients who did not have oversewing. Oversewing of the staple line was associated with a longer operative time (weighted mean difference: 14.400, 95% CI: 7.198–21.602, p=0.000). Conclusions Oversewing the staple line during laparoscopic sleeve gastrectomy does not decrease the risk of staple line bleeding, leakage or overall complications but it does prolong the operative time.

scholarly journals The Associations between VEGF Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Meta-Analysis of 11 Case-Control Studies

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Liyuan Han ◽  
Lina Zhang ◽  
Wenhua Xing ◽  
Renjie Zhuo ◽  
XiaLu Lin ◽  
...  
Keyword(s):  
Diabetic Retinopathy ◽  
Meta Analysis ◽  
Random Effect ◽  
Random Effect Model ◽  
Recessive Model ◽  
Cochrane Library ◽  
Published Data ◽  
Case Control Studies ◽  
Asian Populations ◽  
Effect Model

Aims. Published data on the associations of VEGF polymorphisms with diabetic retinopathy (DR) susceptibility are inconclusive. A systematic meta-analysis was undertaken to clarify this topic.Methods. Data were collected from the following electronic databases: PubMed, Embase, OVID, Web of Science, Elsevier Science Direct, Excerpta Medica Database (EMBASE), and Cochrane Library with the last report up to January 10, 2014. ORs and 95% CIs were calculated for VEGF–2578C/A (rs699947), –1154G/A (rs1570360), –460T/C (rs833061), −634G>C (rs2010963), and +936C/T (rs3025039) in at least two published studies. Meta-analysis was performed in a fixed/random effect model by using the software STATA 12.0.Results. A total of 11 studies fulfilling the inclusion criteria were included in this meta-analysis. A significant relationship between VEGF+936C/T (rs3025039) polymorphism and DR was found in a recessive model (OR = 3.19, 95% CI = 1.20–8.41, andP(z)=0.01) in Asian and overall populations, while a significant association was also found between –460T/C (rs833061) polymorphism and DR risk under a recessive model (OR = 2.12, 95% CI = 1.12–4.01, andP(z)=0.02).Conclusions. Our meta-analysis demonstrates that +936C/T (rs3025039) is likely to be associated with susceptibility to DR in Asian populations, and the recessive model of –460T/C (rs833061) is associated with elevated DR susceptibility.

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