Mohammad Moslem Imani , Rahil Rahimi , Masoud Sadeghi
{"title":"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","authors":"Mohammad Moslem Imani , Rahil Rahimi , Masoud Sadeghi","doi":"10.1016/j.mgene.2021.101007","DOIUrl":null,"url":null,"abstract":"<div><p>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 <em>PAX7</em><span> polymorphisms with the NSCL/P risk. A comprehensive search was conducted in the PubMed, Cochrane Library<span>, Web of Science, and Scopus databases until May 15, 2021. The association between </span></span><em>PAX7</em><span> 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 </span><em>rs742071</em> polymorphism with the risk of NSCL/P, the pooled OR was 1.33 for the allelic (<em>P</em> < 0.0001), 1.98 for the homozygous (<em>P</em> = 0.0007), 1.41 for the heterozygous (<em>P</em> = 0.0267), and 1.15 for the dominant (<em>P</em> = 0.2542) models. For the association of <em>PAX7 rs766325</em> and <em>rs4920520</em> polymorphisms with the risk of NSCL/P, the pooled OR was 0.96 (<em>P</em> = 0.5571) and 1.14 (<em>P</em> = 0.1020), respectively. In addition, the pooled allelic transmission disequilibrium test for <em>s742071</em> and <em>rs766325</em> 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 <em>PAX7 rs742071</em> polymorphism and NSCL/P susceptibility; but there was no linkage or association with <em>rs766325</em> and <em>rs4920520</em> polymorphisms.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 101007"},"PeriodicalIF":0.8000,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"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\",\"authors\":\"Mohammad Moslem Imani , Rahil Rahimi , Masoud Sadeghi\",\"doi\":\"10.1016/j.mgene.2021.101007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>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 <em>PAX7</em><span> polymorphisms with the NSCL/P risk. A comprehensive search was conducted in the PubMed, Cochrane Library<span>, Web of Science, and Scopus databases until May 15, 2021. The association between </span></span><em>PAX7</em><span> 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 </span><em>rs742071</em> polymorphism with the risk of NSCL/P, the pooled OR was 1.33 for the allelic (<em>P</em> < 0.0001), 1.98 for the homozygous (<em>P</em> = 0.0007), 1.41 for the heterozygous (<em>P</em> = 0.0267), and 1.15 for the dominant (<em>P</em> = 0.2542) models. For the association of <em>PAX7 rs766325</em> and <em>rs4920520</em> polymorphisms with the risk of NSCL/P, the pooled OR was 0.96 (<em>P</em> = 0.5571) and 1.14 (<em>P</em> = 0.1020), respectively. In addition, the pooled allelic transmission disequilibrium test for <em>s742071</em> and <em>rs766325</em> 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 <em>PAX7 rs742071</em> polymorphism and NSCL/P susceptibility; but there was no linkage or association with <em>rs766325</em> and <em>rs4920520</em> polymorphisms.</p></div>\",\"PeriodicalId\":38190,\"journal\":{\"name\":\"Meta Gene\",\"volume\":\"31 \",\"pages\":\"Article 101007\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2022-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Meta Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214540021001584\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214540021001584","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
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
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.
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
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.
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