Linkage and association of PAX7 polymorphisms (rs742071, rs766325, and rs4920520) with the risk of non-syndromic cleft lip with/without cleft palate: A systematic review and meta-analysis

IF 0.8 Q4 GENETICS & HEREDITY

Meta Gene Pub Date : 2022-02-01 DOI:10.1016/j.mgene.2021.101007

Mohammad Moslem Imani , Rahil Rahimi , Masoud Sadeghi

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引用次数: 0

Abstract

The studies have reported several additional non-syndromic cleft lip/palate (NSCL/P) susceptibility loci. This systematic review and meta-analysis aimed to evaluate the linkage and association of PAX7 polymorphisms with the NSCL/P risk. A comprehensive search was conducted in the PubMed, Cochrane Library, Web of Science, and Scopus databases until May 15, 2021. The association between PAX7 polymorphisms and NSCL/P susceptibility was analyzed by calculation of the odds ratios (ORs) and 95% confidence intervals (CIs), and the linkage was assessed by the allelic transmission disequilibrium test. Some articles included more than one study (reporting more than one polymorphism). Therefore, nine articles including 13 studies were entered into the meta-analysis. With regard to the association of rs742071 polymorphism with the risk of NSCL/P, the pooled OR was 1.33 for the allelic (P < 0.0001), 1.98 for the homozygous (P = 0.0007), 1.41 for the heterozygous (P = 0.0267), and 1.15 for the dominant (P = 0.2542) models. For the association of PAX7 rs766325 and rs4920520 polymorphisms with the risk of NSCL/P, the pooled OR was 0.96 (P = 0.5571) and 1.14 (P = 0.1020), respectively. In addition, the pooled allelic transmission disequilibrium test for s742071 and rs766325 polymorphisms did not show any allelic linkage between these polymorphisms and susceptibility to NSCL/P. The main results of the present systematic review and meta-analysis showed an association between PAX7 rs742071 polymorphism and NSCL/P susceptibility; but there was no linkage or association with rs766325 and rs4920520 polymorphisms.

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PAX7多态性(rs742071、rs766325和rs4920520)与伴/不伴腭裂的非综合征性唇裂风险的联系和关联:一项系统综述和荟萃分析

研究报告了几个额外的非综合征性唇腭裂(NSCL/P)易感位点。本系统综述和荟萃分析旨在评估PAX7多态性与nsl /P风险的联系和关联。在PubMed, Cochrane Library, Web of Science和Scopus数据库中进行了全面的搜索，直到2021年5月15日。通过计算优势比(ORs)和95%置信区间(CIs)分析PAX7多态性与nsl /P易感性之间的关联，并通过等位基因传递不平衡检验评估连锁关系。一些文章包括了不止一项研究(报告了不止一种多态性)。因此，9篇文章，包括13项研究被纳入meta分析。关于rs742071多态性与nsl /P风险的关联，该等位基因的汇总OR为1.33 (P <纯合子为1.98 (P = 0.0007)，杂合子为1.41 (P = 0.0267)，显性模型为1.15 (P = 0.2542)。PAX7 rs766325和rs4920520多态性与nsl /P风险的关联，合并OR分别为0.96 (P = 0.5571)和1.14 (P = 0.1020)。此外，对s742071和rs766325多态性进行的汇总等位基因传递不平衡试验未发现这些多态性与nsl /P易感性之间存在任何等位基因连锁。本系统综述和荟萃分析的主要结果显示PAX7 rs742071多态性与nsl /P易感性之间存在关联;但与rs766325和rs4920520多态性没有连锁或关联。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.