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Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis

Identifieur interne : 000692 ( Main/Exploration ); précédent : 000691; suivant : 000693

Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis

Auteurs : Brehima Diakite [Mali] ; Yaya Kassogue [Mali] ; Guimogo Dolo [Mali] ; Oumar Kassogue [Mali] ; Mamadou Lassine Keita [Mali] ; Brian Joyce [États-Unis] ; Erin Neuschler [États-Unis] ; Jun Wang [États-Unis] ; Jonah Musa [États-Unis] ; Cheick Bougari Traore [Mali] ; Bakarou Kamate [Mali] ; Etienne Dembele [États-Unis] ; Sellama Nadifi [Maroc] ; Mercy Isichei ; Jane L. Holl [États-Unis] ; Robert Murphy [États-Unis] ; Seydou Doumbia [Mali] ; Lifang Hou [États-Unis] ; Mamoudou Maiga [Mali, États-Unis]

Source :

RBID : PMC:7333399

Descripteurs français

English descriptors

Abstract

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.


Url:
DOI: 10.1186/s12881-020-01072-4
PubMed: 32620097
PubMed Central: 7333399


Affiliations:


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Chicago, IL 60611 USA</nlm:aff>
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1805, Point G, Bamako, Mali</nlm:aff>
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<country xml:lang="fr">Mali</country>
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<name sortKey="Dembele, Etienne" sort="Dembele, Etienne" uniqKey="Dembele E" first="Etienne" last="Dembele">Etienne Dembele</name>
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Chicago, IL 60611 USA</nlm:aff>
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Casablanca, Morocco</nlm:aff>
<country xml:lang="fr">Maroc</country>
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<name sortKey="Isichei, Mercy" sort="Isichei, Mercy" uniqKey="Isichei M" first="Mercy" last="Isichei">Mercy Isichei</name>
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Jos, Plateau State Nigeria</nlm:aff>
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<name sortKey="Holl, Jane L" sort="Holl, Jane L" uniqKey="Holl J" first="Jane L." last="Holl">Jane L. Holl</name>
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<institution>The University of Chicago,</institution>
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Chicago, IL 60637 USA</nlm:aff>
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<region type="state">Illinois</region>
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Chicago, IL 60611 USA</nlm:aff>
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<region type="state">Illinois</region>
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<name sortKey="Doumbia, Seydou" sort="Doumbia, Seydou" uniqKey="Doumbia S" first="Seydou" last="Doumbia">Seydou Doumbia</name>
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1805, Point G, Bamako, Mali</nlm:aff>
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<name sortKey="Hou, Lifang" sort="Hou, Lifang" uniqKey="Hou L" first="Lifang" last="Hou">Lifang Hou</name>
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Chicago, IL 60611 USA</nlm:aff>
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<region type="state">Illinois</region>
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<series>
<title level="j">BMC Medical Genetics</title>
<idno type="eISSN">1471-2350</idno>
<imprint>
<date when="2020">2020</date>
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<keywords scheme="KwdEn" xml:lang="en">
<term>Adult (MeSH)</term>
<term>Base Pairing (genetics)</term>
<term>Breast Neoplasms (genetics)</term>
<term>Case-Control Studies (MeSH)</term>
<term>Female (MeSH)</term>
<term>Genetic Association Studies (MeSH)</term>
<term>Genetic Heterogeneity (MeSH)</term>
<term>Genetic Predisposition to Disease (MeSH)</term>
<term>Humans (MeSH)</term>
<term>Mali (MeSH)</term>
<term>Models, Genetic (MeSH)</term>
<term>Odds Ratio (MeSH)</term>
<term>Polymorphism, Genetic (MeSH)</term>
<term>Publication Bias (MeSH)</term>
<term>Risk Factors (MeSH)</term>
<term>Tumor Suppressor Protein p53 (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr">
<term>Adulte (MeSH)</term>
<term>Appariement de bases (génétique)</term>
<term>Biais de publication (MeSH)</term>
<term>Facteurs de risque (MeSH)</term>
<term>Femelle (MeSH)</term>
<term>Humains (MeSH)</term>
<term>Hétérogénéité génétique (MeSH)</term>
<term>Mali (MeSH)</term>
<term>Modèles génétiques (MeSH)</term>
<term>Odds ratio (MeSH)</term>
<term>Polymorphisme génétique (MeSH)</term>
<term>Protéine p53 suppresseur de tumeur (génétique)</term>
<term>Prédisposition génétique à une maladie (MeSH)</term>
<term>Tumeurs du sein (génétique)</term>
<term>Études cas-témoins (MeSH)</term>
<term>Études d'associations génétiques (MeSH)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Tumor Suppressor Protein p53</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en">
<term>Mali</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Base Pairing</term>
<term>Breast Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Appariement de bases</term>
<term>Protéine p53 suppresseur de tumeur</term>
<term>Tumeurs du sein</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adult</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Genetic Heterogeneity</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Models, Genetic</term>
<term>Odds Ratio</term>
<term>Polymorphism, Genetic</term>
<term>Publication Bias</term>
<term>Risk Factors</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr">
<term>Adulte</term>
<term>Biais de publication</term>
<term>Facteurs de risque</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérogénéité génétique</term>
<term>Mali</term>
<term>Modèles génétiques</term>
<term>Odds ratio</term>
<term>Polymorphisme génétique</term>
<term>Prédisposition génétique à une maladie</term>
<term>Études cas-témoins</term>
<term>Études d'associations génétiques</term>
</keywords>
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<term>Mali</term>
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<front>
<div type="abstract" xml:lang="en">
<sec>
<title>Background</title>
<p id="Par1">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
<italic>TP53</italic>
. 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>
</sec>
<sec>
<title>Methods</title>
<p id="Par2">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>
</sec>
<sec>
<title>Results</title>
<p id="Par3">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;
<italic>P</italic>
 = 0.02) and additive (A2 vs. A1: OR = 1.87, CI 95% = 1.05–3.33;
<italic>P</italic>
 = 0.03) models, but not in the recessive model (
<italic>P</italic>
 = 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 (
<italic>P</italic>
 = 0.15), an increased risk of breast cancer was detected with the recessive (OR = 1.46, 95% CI = 1.15–1.85;
<italic>P</italic>
 = 0.002) and additive (OR = 1.11, 95% CI = 1.02–1.19;
<italic>P</italic>
 = 0.01) models.</p>
</sec>
<sec>
<title>Conclusion</title>
<p id="Par4">The case-control study showed that PIN3 16-bp duplication polymorphism of
<italic>TP53</italic>
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.</p>
</sec>
</div>
</front>
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<author>
<name sortKey="Mabrouk, I" uniqKey="Mabrouk I">I Mabrouk</name>
</author>
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<name sortKey="Baccouche, S" uniqKey="Baccouche S">S Baccouche</name>
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<author>
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<name sortKey="Jiraskova, K" uniqKey="Jiraskova K">K Jiraskova</name>
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<author>
<name sortKey="Brynychova, V" uniqKey="Brynychova V">V Brynychova</name>
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<author>
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<author>
<name sortKey="Jaki Razumovi, J" uniqKey="Jaki Razumovi J">J Jakić-Razumović</name>
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<name sortKey="Alsaleh, M" uniqKey="Alsaleh M">M Alsaleh</name>
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<author>
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<author>
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<name sortKey="Xu, M" uniqKey="Xu M">M Xu</name>
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<name sortKey="Menkiszak, J" uniqKey="Menkiszak J">J Menkiszak</name>
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<list>
<country>
<li>Mali</li>
<li>Maroc</li>
<li>États-Unis</li>
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<li>Illinois</li>
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<name sortKey="Kamate, Bakarou" sort="Kamate, Bakarou" uniqKey="Kamate B" first="Bakarou" last="Kamate">Bakarou Kamate</name>
<name sortKey="Kassogue, Oumar" sort="Kassogue, Oumar" uniqKey="Kassogue O" first="Oumar" last="Kassogue">Oumar Kassogue</name>
<name sortKey="Kassogue, Yaya" sort="Kassogue, Yaya" uniqKey="Kassogue Y" first="Yaya" last="Kassogue">Yaya Kassogue</name>
<name sortKey="Keita, Mamadou Lassine" sort="Keita, Mamadou Lassine" uniqKey="Keita M" first="Mamadou Lassine" last="Keita">Mamadou Lassine Keita</name>
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<name sortKey="Traore, Cheick Bougari" sort="Traore, Cheick Bougari" uniqKey="Traore C" first="Cheick Bougari" last="Traore">Cheick Bougari Traore</name>
<name sortKey="Traore, Cheick Bougari" sort="Traore, Cheick Bougari" uniqKey="Traore C" first="Cheick Bougari" last="Traore">Cheick Bougari Traore</name>
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<name sortKey="Joyce, Brian" sort="Joyce, Brian" uniqKey="Joyce B" first="Brian" last="Joyce">Brian Joyce</name>
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<name sortKey="Dembele, Etienne" sort="Dembele, Etienne" uniqKey="Dembele E" first="Etienne" last="Dembele">Etienne Dembele</name>
<name sortKey="Holl, Jane L" sort="Holl, Jane L" uniqKey="Holl J" first="Jane L." last="Holl">Jane L. Holl</name>
<name sortKey="Hou, Lifang" sort="Hou, Lifang" uniqKey="Hou L" first="Lifang" last="Hou">Lifang Hou</name>
<name sortKey="Hou, Lifang" sort="Hou, Lifang" uniqKey="Hou L" first="Lifang" last="Hou">Lifang Hou</name>
<name sortKey="Joyce, Brian" sort="Joyce, Brian" uniqKey="Joyce B" first="Brian" last="Joyce">Brian Joyce</name>
<name sortKey="Maiga, Mamoudou" sort="Maiga, Mamoudou" uniqKey="Maiga M" first="Mamoudou" last="Maiga">Mamoudou Maiga</name>
<name sortKey="Maiga, Mamoudou" sort="Maiga, Mamoudou" uniqKey="Maiga M" first="Mamoudou" last="Maiga">Mamoudou Maiga</name>
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<name sortKey="Musa, Jonah" sort="Musa, Jonah" uniqKey="Musa J" first="Jonah" last="Musa">Jonah Musa</name>
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<name sortKey="Neuschler, Erin" sort="Neuschler, Erin" uniqKey="Neuschler E" first="Erin" last="Neuschler">Erin Neuschler</name>
<name sortKey="Wang, Jun" sort="Wang, Jun" uniqKey="Wang J" first="Jun" last="Wang">Jun Wang</name>
<name sortKey="Wang, Jun" sort="Wang, Jun" uniqKey="Wang J" first="Jun" last="Wang">Jun Wang</name>
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<noRegion>
<name sortKey="Nadifi, Sellama" sort="Nadifi, Sellama" uniqKey="Nadifi S" first="Sellama" last="Nadifi">Sellama Nadifi</name>
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</record>

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