College of Stomatology, Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory for Oral Diseases and Biomedical Sciences, College of Stomatology, Chongqing Medical University, Chongqing, China; Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education, College of Stomatology, Chongqing Medical University, Chongqing, China.
College of Stomatology, Chongqing Medical University, Chongqing, China; Chongqing Key Laboratory for Oral Diseases and Biomedical Sciences, College of Stomatology, Chongqing Medical University, Chongqing, China; Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education, College of Stomatology, Chongqing Medical University, Chongqing, China.
Arch Oral Biol. 2017 Dec;84:161-168. doi: 10.1016/j.archoralbio.2017.09.032. Epub 2017 Oct 2.
To investigate the association between the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) and the IRF6 rs2235371 (C>T) polymorphism in Chinese Han populations.
PubMed, Web of Science and EMBASE were searched through May 31, 2016, to select eligible studies. Pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were applied to estimate the risk of NSCL/P associated with the IRF6 rs2235371 polymorphism. Subgroup analyses were conducted according to NSCL/P types (CLO, CPO and CLP) and the geographical location (Northern China and Southern China). Publication bias and sensitivity analyses were performed to assess the reliability of the results.
A total of 1275 NSCL/P cases and 1294 controls from seven eligible case-control studies were included. In the overall analysis, a significant association between the IRF6 rs2235371 polymorphism and the risk of NSCL/P was identified under all genetic models, with the exception of the recessive model (T vs. C: OR=0.68, 95%CI=0.60-0.76, P<0.00001). A subgroup analysis by NSCL/P types indicated that the variant T allele significantly decreased the risk of CLO and CLP but not CPO. A subgroup analysis of the geographical location further showed significantly decreased susceptibility in Northern China under all genetic models, but in Southern China, only the heterozygote and dominant models showed a significantly decreased risk of NSCL/P. Funnel plot analysis and the Egger linear regression method detected no publication bias.
The IRF6 rs2235371 T allele decreased the risk of NSCL/P in Chinese Han populations. However, further studies with large sample sizes should be conducted to confirm this association.
探讨 IRF6 rs2235371（C>T）多态性与非综合征性唇裂伴或不伴腭裂（NSCL/P）风险的关系在中国汉族人群中的相关性。
通过检索 PubMed、Web of Science 和 EMBASE，检索截止日期为 2016 年 5 月 31 日，以选择合格的研究。应用合并优势比（OR）及其 95%置信区间（95%CI）来估计与 IRF6 rs2235371 多态性相关的 NSCL/P 风险。根据 NSCL/P 类型（CLO、CPO 和 CLP）和地理位置（中国北方和南方）进行亚组分析。进行发表偏倚和敏感性分析以评估结果的可靠性。
共有来自 7 项合格病例对照研究的 1275 例 NSCL/P 病例和 1294 例对照被纳入分析。在整体分析中，除了隐性模型（T 对 C：OR=0.68，95%CI=0.60-0.76，P<0.00001）外，IRF6 rs2235371 多态性与 NSCL/P 风险之间存在显著关联。根据 NSCL/P 类型的亚组分析表明，变异 T 等位基因显著降低了 CLO 和 CLP 的风险，但不能降低 CPO 的风险。地理位置的亚组分析进一步表明，在所有遗传模型中，北方的易感性显著降低，但在南方，只有杂合子和显性模型显示 NSCL/P 的风险显著降低。漏斗图分析和 Egger 线性回归方法未检测到发表偏倚。
IRF6 rs2235371 T 等位基因降低了中国汉族人群中 NSCL/P 的风险。然而，需要进一步进行具有较大样本量的研究来证实这种相关性。
