Ge Xing, Shi Qiao-Mei, Ding Zhen, Ju Qiang, Wang Hui, Wang Qi, Li Meng-Xue, Chen Gang, Wang Heng-Xue, Xu Li-Chun
1 School of Public Health, Xuzhou Medical University, Xuzhou, Jiangsu, China.
Cleft Palate Craniofac J. 2018 Mar;55(3):328-334. doi: 10.1177/1055665617738995. Epub 2017 Dec 14.
Nonsyndromic clefts of the lip and/or palate (NSCL/P) are one of the most common polygenic diseases. Recently, many studies focused on the association between CRISPLD2 polymorphisms and NSCL/P risk. However, some studies have shown opposite results. In this study, meta-analysis was used to confirm whether CRISPLD2 polymorphism was associated with NSCL/P, and the possible mechanism between CRISPLD2 and NSCL/P was explored.
Relevant studies were conducted on PubMed, Ovid, EBSCO, CINAHL, FMRS, Web of Science, CNKI, and Wanfang databases from their inception up to June 31, 2016. Review Manager 5.0.24 was used to analyze whether CRISPLD2 polymorphism was involved in NSCL/P by pooling odds ratios (ORs) and 95% confidence intervals (CIs). Potential publication bias was evaluated by visual inspection of the funnel plot.
CRISPLD2 rs4783099 was associated with cleft lip and/or palate (CL/P) statistically (OR = 3.18, P < .01). Compared to genotype TT, genotypes CC and CT were correlated significantly (OR = 2.04, P = .04) with CL/P. No evidence showed an association between genetic variation at the CRISPLD2 locus and cleft palate only (CP).
The polymorphism of CRISPLD2 rs4783099 is correlated with an increased risk of CL/P.
非综合征性唇腭裂（NSCL/P）是最常见的多基因疾病之一。近年来，许多研究聚焦于CRISPLD2基因多态性与NSCL/P发病风险之间的关联。然而，一些研究得出了相反的结果。本研究采用荟萃分析来证实CRISPLD2基因多态性是否与NSCL/P相关，并探讨CRISPLD2与NSCL/P之间可能的机制。
在PubMed、Ovid、EBSCO、CINAHL、FMRS、Web of Science、CNKI和万方数据库中检索从建库至2016年6月31日的相关研究。使用Review Manager 5.0.24通过合并比值比（OR）和95%置信区间（CI）来分析CRISPLD2基因多态性是否与NSCL/P有关。通过漏斗图的直观检查评估潜在的发表偏倚。
CRISPLD2 rs4783099与唇腭裂（CL/P）在统计学上相关（OR = 3.18，P <.01）。与基因型TT相比，基因型CC和CT与CL/P显著相关（OR = 2.04，P =.04）。没有证据表明CRISPLD2基因座的遗传变异仅与腭裂（CP）有关。
CRISPLD2 rs4783099的多态性与CL/P风险增加相关。
