背景:非综合征性唇裂伴或不伴腭裂(NSCL/P)在全球范围内是一种普遍的颅面出生缺陷。已经确定了许多候选基因对NSCL/P有影响。然而,干扰素调节因子6(IRF6)多态性与NSCL/P之间的关联产生了不一致的结果,提示需要进行荟萃分析以获得更准确的估计。
方法:我们对2023年11月15日之前在在线书目数据库中发表的所有相关文章进行了全面筛选。使用综合Meta分析(4.0版)软件对收集的数据进行统计分析。
结果:共79项病例对照研究,包括14,003例病例和19,905例对照,包括在我们的分析中。综合数据表明,IRF6rs642961和rs2235371多态性与总体人群中NSCL/P风险增加相关。然而,在总体人群中,rs2013162和rs2235375多态性与NSCL/P风险之间未发现显著关联.此外,亚组分析显示,基于种族背景和原籍国,IRF6rs642961,rs2235371和rs2235375多态性与NSCL/P风险之间存在显著相关性.然而,rs2013162多态性在高加索人和混合人群中起保护作用.
结论:我们的集体数据表明rs642961和rs2235371多态性与总体人群中NSCL/P风险之间存在显著关联。rs2235375多态性可能会影响基于种族背景的NSCL/P的易感性。同时,rs2013162多态性在高加索人提供保护作用,混合种群,巴西人口。
BACKGROUND: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent
craniofacial birth defect on a global scale. A number of candidate genes have been identified as having an impact on NSCL/P. However, the association between interferon regulatory factor 6 (IRF6) polymorphisms and NSCL/P has yielded inconsistent results, prompting the need for a meta-analysis to obtain more accurate estimates.
METHODS: We conducted a thorough screening of all relevant articles published up until November 15, 2023, in online bibliographic databases. The statistical analysis of the collected data was performed using the Comprehensive Meta-Analysis (Version 4.0) software.
RESULTS: A total of 79
case-control studies, comprising 14,003 cases and 19,905 controls, were included in our analysis. The combined data indicated that the IRF6 rs642961 and rs2235371 polymorphisms were associated with an increased risk of NSCL/P in the overall population. However, no significant association was found between the rs2013162 and rs2235375 polymorphisms and the risk of NSCL/P in the overall population. Furthermore, subgroup analyses revealed significant correlations between the IRF6 rs642961, rs2235371, and rs2235375 polymorphisms and the risk of NSCL/P based on ethnic background and country of origin. Nevertheless, the rs2013162 polymorphism plays a protective role in Caucasians and mixed populations.
CONCLUSIONS: Our collective data indicates a significant association between the rs642961 and rs2235371 polymorphisms and the risk of NSCL/P in the overall population. The rs2235375 polymorphism could influence the susceptibility to NSCL/P based on ethnic background. Meanwhile, the rs2013162 polymorphism provides protective effects in Caucasian, mixed populations, and the Brazilian population.