Int J Stomatol ›› 2020, Vol. 47 ›› Issue (4): 397-405.doi: 10.7518/gjkq.2020007

• Original Articles • Previous Articles     Next Articles

Meta-analysis of the association between interferon regulatory factor 6 gene polymorphisms and non-syndromic cleft lip with or without cleft palate in Asian population

Hou Yali,Ma Li()   

  1. Dept. of Oral and Maxillofacial Surgery, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, China
  • Received:2019-07-05 Revised:2019-11-27 Online:2020-07-01 Published:2020-07-10
  • Contact: Li Ma E-mail:mali3709@163.com
  • Supported by:
    This study was supported by Medicine and Health Science Technology of Shandong Province(2016WSB01049)

Abstract:

Objective This Meta-analysis was to investigate the relationship of the interferon regulatory factor 6 (IRF6) gene rs2235371 and rs642961 polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in Asian population. Methods Data extraction was independently performed by two reviewers. Odds ratio (OR) and its 95% confidence interval (CI) to estimate the associations between IRF6 genetic polymorphisms and the risk of NSCL/P. Variant effects on NSCL/P were assessed using per-genotype approach. A sensitivity analysis was employed to evaluate the influence of single studies on the overall estimate. Publication bias was assessed using the Egger’s test and funnel plot. Results Significant difference was found between IRF6 rs2235371, rs642961 and cleft lip with or without cleft palate (CL/P) risk in heterozygote comparison. For rs2235371, GA, AA and GA+AA carried respectively, 0.77 (0.73-0.81), 0.53 (0.41-0.70) and 0.77 (0.72-0.81) times lower odds of NSCL/P than GG genotype. For rs642961, GA, AA and GA+AA carried respectively, 1.34 (1.09-1.65), 3.56 (2.14-5.92) and 1.45 (1.19-1.77) times higher odds of NSCL/P than GG genotype. The result of sensitivity analysis indicated that no single study could affect the pooled ORs. In addition, there was not publication bias detected by either the funnel plot or Egger’s test. Conclusion These results suggested that the IRF6 rs642961 polymorphism, but not rs2235371, might increase the risk of NSCL/P in the Asian populations. However, more relevant case-control studies are required to obtain more precise results.

Key words: non-syndromic cleft lip with or without palate, single nucleotide polymorphism, interferon regulatory factor 6, Meta-analysis

CLC Number: 

  • Q754

TrendMD: 

Tab 1

Characteristics of included studies"

第一作者 年限 国家 基因位点 第一作者 年限 国家 基因位点
Srichomthong C 2005 泰国 rs2235371 任红旺 2012 中国 rs642961
马坚 2008 中国 rs2235371 Lu Y 2013 中国 rs2235371
Ali A 2009 印度 rs2235371 Song T 2013 中国 rs2235371
Huang Y 2009 中国 rs2235371 张健 2013 中国 rs2235371
Tang W 2009 中国 rs2235371 Aldhorae KA 2014 也门 rs642961
Pan Y 2010 中国 rs2235371 Mijiti A 2015 中国 rs2235371
rs642961 Kerameddin S 2015 伊朗 rs642961
任红旺 2010 中国 rs642961 田景丰 2015 中国 rs642961
Shi J 2011 中国 rs2235371 Xu W 2016 中国 rs2235371
rs642961 rs2235371
李梦洁 2012 中国 rs2235371

Tab 2

Genotype frequencies and genotype effects for IRF6 at SNP rs2235371"

作者 年限 非综合征型唇腭裂 对照 GA/GG AA/GG GA+AA/GG
GA AA GG GA AA GG OR1 95% CI OR2 95% CI OR3 95% CI
Srichomthong C 2005 192 72 93 27 93 99 0.75 0.62, 0.93 0.77 0.51, 1.18 0.81 0.68, 0.95
马坚 2008 212 89 107 16 107 105 0.78 0.63, 0.96 0.33 0.19, 0.55 0.74 0.62, 0.87
Ali A 2009 323 65 252 6 252 71 0.64 0.48, 0.86 0.49 0.17, 1.44 0.64 0.49, 0.85
Huang Y 2009 257 106 133 18 133 124 0.76 0.62, 0.93 0.30 0.18, 0.49 0.72 0.61, 0.85
Tang W 2009 66 31 30 5 30 36 0.85 0.63, 1.16 0.55 0.21, 1.41 0.84 0.65, 1.10
Pan Y 2010 127 40 69 18 69 58 0.65 0.49, 0.88 1.42 0.66, 3.05 0.77 0.61, 0.98
Shi J 2011 173 69 82 22 82 91 0.86 0.68, 1.09 0.88 0.52, 1.50 0.89 0.73, 1.08
李梦洁 2012 106 45 57 4 57 49 0.79 0.60, 1.03 0.38 0.13, 1.12 0.77 0.60, 0.99
Lu Y 2013 236 96 122 18 122 114 0.81 0.68, 0.97 0.42 0.26, 0.67 0.78 0.67, 0.91
Song T 2013 203 72 114 17 114 89 0.73 0.58, 0.91 0.58 0.33, 1.00 0.74 0.62, 0.90
张健 2013 100 41 46 13 46 54 0.79 0.59, 1.05 0.57 0.32, 1.03 0.79 0.63, 0.99
Mijiti A 2015 100 17 80 3 80 20 0.52 0.30, 0.90 1.445 0.16, 13.47 0.57 0.34, 0.96
Xu W 2016 104 44 54 6 54 50 0.83 0.65, 1.06 0.32 0.14, 0.70 0.78 0.62, 0.96
汇总 0.77 0.73, 0.81 0.53 0.41, 0.70 0.77 0.72, 0.81

Fig 1

Forest plots for rs2235371 of IRF6"

Fig 2

Forest plots for rs642961 of IRF6"

Tab 3

Genotype frequencies and genotype effects for IRF6 at SNP rs642961"

作者 年限 非综合征型唇腭裂 对照 GA/GG AA/GG GA+AA/GG
GA AA GG GA AA GG OR1 95% CI OR2 95% CI OR3 95% CI
Pan Y 2010 54 67 6 67 60 67 1.54 1.09, 2.19 6.74 0.83, 54.67 1.60 1.14, 2.24
任红旺 2010 70 88 28 88 98 88 1.52 1.15, 2.01 4.34 2.06, 9.17 1.65 1.29, 2.10
Shi J 2011 62 100 11 100 73 100 1.37 0.99, 1.89 5.60 1.27, 24.69 1.46 1.08, 1.98
任红旺 2012 82 140 53 140 135 140 1.03 0.82, 1.30 4.51 2.49, 8.17 1.28 1.06, 1.54
Aldhorae KA 2014 74 159 9 159 83 159 1.30 1.01, 1.67 2.14 0.84, 5.44 1.32 1.04, 1.68
Kerameddin S 2015 51 88 11 88 62 88 0.91 0.67, 1.22 1.15 0.50, 2.644 0.94 0.72, 1.22
田景丰 2015 36 31 21 31 57 31 2.44 1.61, 3.70 7.27 2.92, 18.12 2.55 1.79, 3.61
汇总 1.34 1.09, 1.65 3.56 2.14, 5.92 1.45 1.19, 1.77

Fig 3

Sensitivity analysis for rs2235371 of IRF6"

Fig 4

Sensitivity analysis for rs642961 of IRF6"

Fig 5

Funnel plots for rs2235371 of IRF6"

Fig 6

Funnel plots for rs642961 of IRF6"

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