Association between IRF6 rs642961 polymorphism and non-syndromic cleft lip with or without a cleft palate: a systematic review and meta-analysis

Tzu-Hui Lee, Tsung Ta Liu, Chih Wei Sung, Ju Chi Ou, Jui-Ju Yeh, Yung-Ting Kuo, Yuan-Hung Wang

Research output: Contribution to journalReview article

Abstract

Non-syndromic cleft lip with or without a cleft palate (NSCL/P) is one of the most common newborn malformations. sPrevious studies have reported that genetic variations of interferon regulatory factor 6 (IRF6) polymorphisms are associated with NSCL/P. However, the effect sizes of individual studies still vary. Our present study is a meta-analysis to investigate the association of IRF6 rs642961 polymorphism with NSCL/P. A literature search in PubMed was performed to select eligible literatures including observational studies which evaluated association between IRF6 polymorphisms and NSCL/P. We conducted a systematic review and a meta-analysis on all qualified eight case-control studies that included 1,899 cases and 3,458 controls to investigate the association between NSCL/P and IRF6 rs642961 polymorphism. We found that the A allele had a higher risk of NSCL/P (odds ratio (OR)=1.64, 95% confidence interval (CI)=1.37-1.97) in comparison to the G allele of IRF6 rs642961 polymorphism. The rs642961 A allele in the Asian population had an increased risk of NSCL/P (OR=2.12, 95% CI=1.66-2.71). Under various genetic models, the A allele of IRF6 rs642961 polymorphism in Asian population showed a significantly increased risk of NSCL/P under the dominant model (OR=2.19, 95% CI=1.64-2.91), recessive model (OR=4.49, 95% CI=2.26-8.92), homozygous model (OR=5.86, 95% CI=2.90-11.8), and heterozygous model (OR=1.91, 95% CI=1.42-2.57). Our major findings suggest that association of IRF6 rs642961 polymorphism and NSCL/P is predominant in an Asian population rather than non-Asian populations, which might be useful in clinical diagnoses and treatment of patients with NSCL/P
Original languageEnglish
Pages (from-to)3033-3042
JournalInternational Journal of Clinical and Experimental Medicine
Publication statusPublished - 2018

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Interferon Regulatory Factors
Cleft Lip
Cleft Palate
Polymorphism
Meta-Analysis
Odds Ratio
Confidence Intervals
Alleles
Population
Genetic Models
PubMed
Observational Studies
Case-Control Studies

Cite this

@article{32b1d55c196348e2a010c8903ea0a9c1,
title = "Association between IRF6 rs642961 polymorphism and non-syndromic cleft lip with or without a cleft palate: a systematic review and meta-analysis",
abstract = "Non-syndromic cleft lip with or without a cleft palate (NSCL/P) is one of the most common newborn malformations. sPrevious studies have reported that genetic variations of interferon regulatory factor 6 (IRF6) polymorphisms are associated with NSCL/P. However, the effect sizes of individual studies still vary. Our present study is a meta-analysis to investigate the association of IRF6 rs642961 polymorphism with NSCL/P. A literature search in PubMed was performed to select eligible literatures including observational studies which evaluated association between IRF6 polymorphisms and NSCL/P. We conducted a systematic review and a meta-analysis on all qualified eight case-control studies that included 1,899 cases and 3,458 controls to investigate the association between NSCL/P and IRF6 rs642961 polymorphism. We found that the A allele had a higher risk of NSCL/P (odds ratio (OR)=1.64, 95{\%} confidence interval (CI)=1.37-1.97) in comparison to the G allele of IRF6 rs642961 polymorphism. The rs642961 A allele in the Asian population had an increased risk of NSCL/P (OR=2.12, 95{\%} CI=1.66-2.71). Under various genetic models, the A allele of IRF6 rs642961 polymorphism in Asian population showed a significantly increased risk of NSCL/P under the dominant model (OR=2.19, 95{\%} CI=1.64-2.91), recessive model (OR=4.49, 95{\%} CI=2.26-8.92), homozygous model (OR=5.86, 95{\%} CI=2.90-11.8), and heterozygous model (OR=1.91, 95{\%} CI=1.42-2.57). Our major findings suggest that association of IRF6 rs642961 polymorphism and NSCL/P is predominant in an Asian population rather than non-Asian populations, which might be useful in clinical diagnoses and treatment of patients with NSCL/P",
author = "Tzu-Hui Lee and Liu, {Tsung Ta} and Sung, {Chih Wei} and Ou, {Ju Chi} and Jui-Ju Yeh and Yung-Ting Kuo and Yuan-Hung Wang",
year = "2018",
language = "English",
pages = "3033--3042",
journal = "International Journal of Clinical and Experimental Medicine",
issn = "1940-5901",
publisher = "e-Century Publishing Corporation",

}

TY - JOUR

T1 - Association between IRF6 rs642961 polymorphism and non-syndromic cleft lip with or without a cleft palate: a systematic review and meta-analysis

AU - Lee, Tzu-Hui

AU - Liu, Tsung Ta

AU - Sung, Chih Wei

AU - Ou, Ju Chi

AU - Yeh, Jui-Ju

AU - Kuo, Yung-Ting

AU - Wang, Yuan-Hung

PY - 2018

Y1 - 2018

N2 - Non-syndromic cleft lip with or without a cleft palate (NSCL/P) is one of the most common newborn malformations. sPrevious studies have reported that genetic variations of interferon regulatory factor 6 (IRF6) polymorphisms are associated with NSCL/P. However, the effect sizes of individual studies still vary. Our present study is a meta-analysis to investigate the association of IRF6 rs642961 polymorphism with NSCL/P. A literature search in PubMed was performed to select eligible literatures including observational studies which evaluated association between IRF6 polymorphisms and NSCL/P. We conducted a systematic review and a meta-analysis on all qualified eight case-control studies that included 1,899 cases and 3,458 controls to investigate the association between NSCL/P and IRF6 rs642961 polymorphism. We found that the A allele had a higher risk of NSCL/P (odds ratio (OR)=1.64, 95% confidence interval (CI)=1.37-1.97) in comparison to the G allele of IRF6 rs642961 polymorphism. The rs642961 A allele in the Asian population had an increased risk of NSCL/P (OR=2.12, 95% CI=1.66-2.71). Under various genetic models, the A allele of IRF6 rs642961 polymorphism in Asian population showed a significantly increased risk of NSCL/P under the dominant model (OR=2.19, 95% CI=1.64-2.91), recessive model (OR=4.49, 95% CI=2.26-8.92), homozygous model (OR=5.86, 95% CI=2.90-11.8), and heterozygous model (OR=1.91, 95% CI=1.42-2.57). Our major findings suggest that association of IRF6 rs642961 polymorphism and NSCL/P is predominant in an Asian population rather than non-Asian populations, which might be useful in clinical diagnoses and treatment of patients with NSCL/P

AB - Non-syndromic cleft lip with or without a cleft palate (NSCL/P) is one of the most common newborn malformations. sPrevious studies have reported that genetic variations of interferon regulatory factor 6 (IRF6) polymorphisms are associated with NSCL/P. However, the effect sizes of individual studies still vary. Our present study is a meta-analysis to investigate the association of IRF6 rs642961 polymorphism with NSCL/P. A literature search in PubMed was performed to select eligible literatures including observational studies which evaluated association between IRF6 polymorphisms and NSCL/P. We conducted a systematic review and a meta-analysis on all qualified eight case-control studies that included 1,899 cases and 3,458 controls to investigate the association between NSCL/P and IRF6 rs642961 polymorphism. We found that the A allele had a higher risk of NSCL/P (odds ratio (OR)=1.64, 95% confidence interval (CI)=1.37-1.97) in comparison to the G allele of IRF6 rs642961 polymorphism. The rs642961 A allele in the Asian population had an increased risk of NSCL/P (OR=2.12, 95% CI=1.66-2.71). Under various genetic models, the A allele of IRF6 rs642961 polymorphism in Asian population showed a significantly increased risk of NSCL/P under the dominant model (OR=2.19, 95% CI=1.64-2.91), recessive model (OR=4.49, 95% CI=2.26-8.92), homozygous model (OR=5.86, 95% CI=2.90-11.8), and heterozygous model (OR=1.91, 95% CI=1.42-2.57). Our major findings suggest that association of IRF6 rs642961 polymorphism and NSCL/P is predominant in an Asian population rather than non-Asian populations, which might be useful in clinical diagnoses and treatment of patients with NSCL/P

M3 - Review article

SP - 3033

EP - 3042

JO - International Journal of Clinical and Experimental Medicine

JF - International Journal of Clinical and Experimental Medicine

SN - 1940-5901

ER -