Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L Holl, Robert Murphy, Seydou Doumbia, Lifang Hou, Mamoudou Maiga
{"title":"马里TP53 PIN3 16-bp重复多态性与乳腺癌风险的关联及荟萃分析","authors":"Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L Holl, Robert Murphy, Seydou Doumbia, Lifang Hou, Mamoudou Maiga","doi":"10.1186/s12881-020-01072-4","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.</p><p><strong>Methods: </strong>We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy Malian women using PCR. In addition, we performed a meta-analysis of case-control study data from international databases, including Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science. Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.</p><p><strong>Results: </strong>In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2 + A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR = 1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not in the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6018 disease cases and 4456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR = 1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.</p><p><strong>Conclusion: </strong>The case-control study showed that PIN3 16-bp duplication polymorphism of TP53 is a significant risk factor for breast cancer in Malian women. 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Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.</p><p><strong>Results: </strong>In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2 + A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR = 1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not in the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6018 disease cases and 4456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR = 1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.</p><p><strong>Conclusion: </strong>The case-control study showed that PIN3 16-bp duplication polymorphism of TP53 is a significant risk factor for breast cancer in Malian women. 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引用次数: 2
摘要
背景:乳腺癌是马里和全世界妇女中最常见的肿瘤，与多种危险因素有关，包括遗传因素，如TP53的PIN3 16-bp重复多态性。本研究的目的是评估PIN3 16-bp重复多态性在马里人群乳腺癌易感性中的作用，并进行荟萃分析以更好地了解其与其他人群数据的相关性。方法:采用PCR方法对60例马里乳腺癌妇女和60例马里健康妇女血液样本中PIN3 16bp重复多态性进行分析。此外，我们还对来自Pubmed、哈佛大学图书馆、遗传学医学文献数据库、创世纪图书馆和Web of Science等国际数据库的病例对照研究数据进行了荟萃分析。总体而言，确定了固定效应和随机效应模型的95% CI的比值比(OR)。使用不一致性来评估研究之间的异质性，并使用漏斗图估计发表偏倚。结果:在所研究的马里患者中，PIN3 16-bp重复多态性与乳腺癌风险显著相关(A1A2 + A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73;P = 0.02)和添加剂(A2与A1: = 1.87, 95% CI = 1.05 - -3.33;P = 0.03)模型，但在隐性模型中没有(P = 0.38)。在meta分析中，共纳入19篇文章，共6018例疾病病例和4456例对照。除显性模型(P = 0.15)外，隐性模型(OR = 1.46, 95% CI = 1.15-1.85;P = 0.002)和添加剂(或= 1.11,95% CI = 1.02 - -1.19;P = 0.01)模型。结论:病例对照研究显示，TP53 PIN3 16bp重复多态性是马里女性乳腺癌的重要危险因素。这些发现得到了对世界各地不同种族群体进行的荟萃分析数据的支持。
Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis.
Background: Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our study was to evaluate the role of the PIN3 16-bp duplication polymorphism in the susceptibility to breast cancer in the Malian population and to perform a meta-analysis to better understand the correlation with data from other populations.
Methods: We analyzed the PIN3 16-bp duplication polymorphism in blood samples of 60 Malian women with breast cancer and 60 healthy Malian women using PCR. In addition, we performed a meta-analysis of case-control study data from international databases, including Pubmed, Harvard University Library, Genetics Medical Literature Database, Genesis Library and Web of Science. Overall, odds ratio (OR) with 95% CI from fixed and random effects models were determined. Inconsistency was used to assess heterogeneity between studies and publication bias was estimated using the funnel plot.
Results: In the studied Malian patients, a significant association of PIN3 16-bp duplication polymorphism with breast cancer risk was observed in dominant (A1A2 + A2A2 vs. A1A1: OR = 2.26, CI 95% = 1.08-4.73; P = 0.02) and additive (A2 vs. A1: OR = 1.87, CI 95% = 1.05-3.33; P = 0.03) models, but not in the recessive model (P = 0.38). In the meta-analysis, nineteen (19) articles were included with a total of 6018 disease cases and 4456 controls. Except for the dominant model (P = 0.15), an increased risk of breast cancer was detected with the recessive (OR = 1.46, 95% CI = 1.15-1.85; P = 0.002) and additive (OR = 1.11, 95% CI = 1.02-1.19; P = 0.01) models.
Conclusion: The case-control study showed that PIN3 16-bp duplication polymorphism of TP53 is a significant risk factor for breast cancer in Malian women. These findings are supported by data from the meta-analysis carried out on different ethnic groups around the world.
期刊介绍：
BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.
Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.
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