国际口腔医学杂志

国际口腔医学杂志 ›› 2020, Vol. 47 ›› Issue (4): 397-405.doi: 10.7518/gjkq.2020007

• 论著 • 上一篇    下一篇

亚洲人群干扰素调节因子6基因多态性与非综合征型唇腭裂相关性研究的Meta分析

侯亚丽,马利()   

  1. 山东大学附属省立医院口腔颌面外科 济南 250021
  • 收稿日期:2019-07-05 修回日期:2019-11-27 出版日期:2020-07-01 发布日期:2020-07-10
  • 通讯作者: 马利
  • 作者简介:侯亚丽,学士,主管护师,Email：n_houyali@sina.cn
  • 基金资助:
    山东省医药卫生科技发展规划项目(2016WSB01049)

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
  • Supported by:
    This study was supported by Medicine and Health Science Technology of Shandong Province(2016WSB01049)

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摘要：

目的 本研究旨在探讨在亚洲人群中干扰素调节因子6基因（IRF6）的rs2235371和rs642961位点多态性与非综合征型唇腭裂的相关性。方法 数据提取由2位评审者独立完成。用比值比（OR）及其95%置信区间（CI）评价IRF6基因多态性与非综合征型唇腭裂发病风险的关系。采用敏感性分析来评估单项研究对总体估计的影响。采用Egger试验和漏斗图评估出版偏差。结果 IRF6 rs2235371、rs642961位点与唇腭裂风险在杂合子比较中有显著差异。在非综合征型唇腭裂中,对于rs2235371位点,GA、AA和GA+AA基因型与GG基因型的OR（95% CI）分别为0.77（0.73~0.81）、0.53（0.41~0.70）和0.77（0.72~0.81）;对于rs642961位点,GA、AA和GA+AA基因型与GG基因型的OR（95% CI）分别为1.34（1.09~1.65）、3.56（2.14~5.92）和1.45（1.19~1.77）。敏感性分析的结果表明,任何一项单独的研究均不能够影响合并的OR。漏斗图和Egger试验均未检测到发表偏倚。结论 IRF6 rs642961位点多态性可能增加亚洲人群非综合征型唇腭裂的发病风险,而rs2235371位点多态性不会增加非综合征型唇腭裂的发病风险。

关键词: 非综合征型唇腭裂, 单核苷酸多态性, 干扰素调节因子6, Meta分析

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

中图分类号: 

  • Q754

表 1

纳入研究的相关信息"

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

表 2

rs2235371位点IRF6基因型频率及基因型效应分析"

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

图 1

IRF6 rs2235371森林图 A：AA与GG;B：GA与GG;C：AA+GA与GG。权重根据随机效应分析确定。"

图 2

IRF6 rs642961森林图 A：AA与GG;B：GA与GG;C：AA+GA与GG。权重根据随机效应分析确定。"

表 3

rs642961位点IRF6基因型频率及基因型效应分析"

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

图 3

IRF6 rs2235371的敏感性分析 A：AA与GG;B：GA与GG;C：AA+GA与GG。"

图 4

IRF6 rs642961的敏感性分析 A：AA与GG;B：GA与GG;C：AA+GA与GG。"

图 5

IRF6 rs2235371的漏斗图 A：AA与GG;B：GA与GG;C：AA+GA与GG。ES：95% CI估算值。"

图 6

IRF6 rs642961的漏斗图 A：AA与GG;B：GA与GG;C：AA+GA与GG。ES：95% CI估算值。"

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