Sara Cheraghi, Tofigh Mobaderi, Azadeh Mottaghi, Fatemeh Movahedi Motlagh, Sara Taghizadeh, Maryam Eghbali
{"title":"MC4R基因的遗传变异与肥胖/超重的风险：一项系统综述和荟萃分析","authors":"Sara Cheraghi, Tofigh Mobaderi, Azadeh Mottaghi, Fatemeh Movahedi Motlagh, Sara Taghizadeh, Maryam Eghbali","doi":"10.1111/dom.16425","DOIUrl":null,"url":null,"abstract":"<p><strong>Aim: </strong>Obesity is a significant health issue worldwide, progressing due to genetic factors and lifestyle. Melanocortin 4 receptor (MC4R) gene polymorphisms have been identified as a cause of overweight and obesity risk. The aim of this study was a comprehensive assessment of MC4R polymorphism effects on overweight/obesity risk.</p><p><strong>Methods: </strong>All retrieved literature from PubMed, Web of Science and Scopus according to PRISMA guidelines up to June 2022 was reviewed. Inclusion criteria are restricted to English-language, human case-control/cohort studies with genotype distributions of MC4R polymorphisms and their association with obesity and overweight in any geographic regions and age. The heterogeneity using the I-squared statistic (I<sup>2</sup>), the Q-test and Prediction Interval (PI) and publication bias using Begg's and Egger's tests were examined, and the pooled odds ratios in different genetic models were estimated using a random effect model. Subgroup analysis was performed by the geographic regions and age groups. Risk of bias for individual studies was not assessed. The review is limited by restricted racial diversity and exclusion of environmental factors, incomplete data and limited access to certain articles. This work received no specific funding, and the review was not prospectively registered.</p><p><strong>Results: </strong>In our study, 39 eligible studies with 43 697 overweight and obese cases and 52 272 normal weights were included. In mixed-age populations, rs17700633, rs17782313, rs11872992, rs12970134, rs2229616 and rs571312 were evaluated. The remarkable association was seen by rs17782313 and rs12970134 in the Homozygous model (OR = 1.73; 95% CI: 1.51, 1.98 and 1.74; 95% CI: 1.29; 2.35, respectively). In addition, rs17782313 and rs12970134 were found to be more strongly linked to overweight and obesity in Asian and European population groups, as determined by a subgroup analysis of the geographic regions.</p><p><strong>Conclusion: </strong>The present study confirms the high association of rs17782313 and rs12970134 with obesity and overweight in all age groups and geographic regions. However, further functional studies and high-population research on other MC4R SNPs must validate their role.</p>","PeriodicalId":158,"journal":{"name":"Diabetes, Obesity & Metabolism","volume":" ","pages":""},"PeriodicalIF":5.4000,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic variants in the MC4R gene and risk of obesity/overweight: A systematic review and meta-analysis.\",\"authors\":\"Sara Cheraghi, Tofigh Mobaderi, Azadeh Mottaghi, Fatemeh Movahedi Motlagh, Sara Taghizadeh, Maryam Eghbali\",\"doi\":\"10.1111/dom.16425\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Aim: </strong>Obesity is a significant health issue worldwide, progressing due to genetic factors and lifestyle. Melanocortin 4 receptor (MC4R) gene polymorphisms have been identified as a cause of overweight and obesity risk. The aim of this study was a comprehensive assessment of MC4R polymorphism effects on overweight/obesity risk.</p><p><strong>Methods: </strong>All retrieved literature from PubMed, Web of Science and Scopus according to PRISMA guidelines up to June 2022 was reviewed. Inclusion criteria are restricted to English-language, human case-control/cohort studies with genotype distributions of MC4R polymorphisms and their association with obesity and overweight in any geographic regions and age. The heterogeneity using the I-squared statistic (I<sup>2</sup>), the Q-test and Prediction Interval (PI) and publication bias using Begg's and Egger's tests were examined, and the pooled odds ratios in different genetic models were estimated using a random effect model. Subgroup analysis was performed by the geographic regions and age groups. Risk of bias for individual studies was not assessed. The review is limited by restricted racial diversity and exclusion of environmental factors, incomplete data and limited access to certain articles. This work received no specific funding, and the review was not prospectively registered.</p><p><strong>Results: </strong>In our study, 39 eligible studies with 43 697 overweight and obese cases and 52 272 normal weights were included. In mixed-age populations, rs17700633, rs17782313, rs11872992, rs12970134, rs2229616 and rs571312 were evaluated. The remarkable association was seen by rs17782313 and rs12970134 in the Homozygous model (OR = 1.73; 95% CI: 1.51, 1.98 and 1.74; 95% CI: 1.29; 2.35, respectively). In addition, rs17782313 and rs12970134 were found to be more strongly linked to overweight and obesity in Asian and European population groups, as determined by a subgroup analysis of the geographic regions.</p><p><strong>Conclusion: </strong>The present study confirms the high association of rs17782313 and rs12970134 with obesity and overweight in all age groups and geographic regions. However, further functional studies and high-population research on other MC4R SNPs must validate their role.</p>\",\"PeriodicalId\":158,\"journal\":{\"name\":\"Diabetes, Obesity & Metabolism\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":5.4000,\"publicationDate\":\"2025-04-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diabetes, Obesity & Metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/dom.16425\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diabetes, Obesity & Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/dom.16425","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Genetic variants in the MC4R gene and risk of obesity/overweight: A systematic review and meta-analysis.
Aim: Obesity is a significant health issue worldwide, progressing due to genetic factors and lifestyle. Melanocortin 4 receptor (MC4R) gene polymorphisms have been identified as a cause of overweight and obesity risk. The aim of this study was a comprehensive assessment of MC4R polymorphism effects on overweight/obesity risk.
Methods: All retrieved literature from PubMed, Web of Science and Scopus according to PRISMA guidelines up to June 2022 was reviewed. Inclusion criteria are restricted to English-language, human case-control/cohort studies with genotype distributions of MC4R polymorphisms and their association with obesity and overweight in any geographic regions and age. The heterogeneity using the I-squared statistic (I2), the Q-test and Prediction Interval (PI) and publication bias using Begg's and Egger's tests were examined, and the pooled odds ratios in different genetic models were estimated using a random effect model. Subgroup analysis was performed by the geographic regions and age groups. Risk of bias for individual studies was not assessed. The review is limited by restricted racial diversity and exclusion of environmental factors, incomplete data and limited access to certain articles. This work received no specific funding, and the review was not prospectively registered.
Results: In our study, 39 eligible studies with 43 697 overweight and obese cases and 52 272 normal weights were included. In mixed-age populations, rs17700633, rs17782313, rs11872992, rs12970134, rs2229616 and rs571312 were evaluated. The remarkable association was seen by rs17782313 and rs12970134 in the Homozygous model (OR = 1.73; 95% CI: 1.51, 1.98 and 1.74; 95% CI: 1.29; 2.35, respectively). In addition, rs17782313 and rs12970134 were found to be more strongly linked to overweight and obesity in Asian and European population groups, as determined by a subgroup analysis of the geographic regions.
Conclusion: The present study confirms the high association of rs17782313 and rs12970134 with obesity and overweight in all age groups and geographic regions. However, further functional studies and high-population research on other MC4R SNPs must validate their role.
期刊介绍：
Diabetes, Obesity and Metabolism is primarily a journal of clinical and experimental pharmacology and therapeutics covering the interrelated areas of diabetes, obesity and metabolism. The journal prioritises high-quality original research that reports on the effects of new or existing therapies, including dietary, exercise and lifestyle (non-pharmacological) interventions, in any aspect of metabolic and endocrine disease, either in humans or animal and cellular systems. ‘Metabolism’ may relate to lipids, bone and drug metabolism, or broader aspects of endocrine dysfunction. Preclinical pharmacology, pharmacokinetic studies, meta-analyses and those addressing drug safety and tolerability are also highly suitable for publication in this journal. Original research may be published as a main paper or as a research letter.
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