Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study
Stroke is the second leading cause of death and a major contributor to disability worldwide, with the highest prevalence in developing countries. Ischemic stroke (IS) is a complex disease resulting from genetic and environmental interactions. The present work is a pilot study exploring the associati...
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description | Stroke is the second leading cause of death and a major contributor to disability worldwide, with the highest prevalence in developing countries. Ischemic stroke (IS) is a complex disease resulting from genetic and environmental interactions. The present work is a pilot study exploring the association of estrogen receptor-α (
ESR1
) and aryl hydrocarbon receptor (
AHR
) SNPs with IS in a small Egyptian population of IS patients. Sixty IS patients and 60 matched healthy controls were included in this case–control study. Genotyping of
ESR1
PvuII (rs2234693),
ESR1
XbaI (rs9340799), and
AHR
rs2066853 SNPs was performed using real-time PCR.
ESR1
PvuII TC and CC genotypes were associated with IS (odds ratio (OR) = 2.821, 95% confidence interval (CI) = 1.204–6.609,
p
= 0.017, and OR = 9.455, 95% CI = 2.222–40.237,
p
= 0.002, respectively), and TC genotype in female IS (OR = 4.018, 95% CI = 1.117–14.455,
p
= 0.033). Additionally,
ESR1
XbaI GA and GG genotypes were associated with IS (OR = 2.833, 95% CI = 1.190–6.749,
p
= 0.019, and OR = 34.000, 95% CI = 6.965–165.980,
p
|
doi_str_mv | 10.1007/s12031-024-02255-x |
format | Article |
fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_3103450452</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3103655234</sourcerecordid><originalsourceid>FETCH-LOGICAL-c256t-51c43bc4a735cd028365599b6cb704b9f82c633b9557b88c871c87a9df850ca03</originalsourceid><addsrcrecordid>eNp9kc1O3DAUha2qiAHKC3RRWeqmm4D_k7AboSkgITEqdG05jjNjmsSpnQjyGrwJL8IzYSbAoC66uLpX8nfP8dUB4CtGRxih9DhggihOEGGxCOfJ_SewhznPE4yF-PxhnoH9EG4RIpjhbBfMaE4EY0LsgYd5CE5b1VvXQlfBRei9W5kW_jLadL3zydMjVG0J536s4flYeqeVL9wWgGemNXDp6rFxvlvb0AR4Z_s1vAh6bRqr4XWU_GOgbaMQXKzGrrdxWLpuqDe-J3AOl7Z2fSSHcvwCdipVB3P42g_A75-Lm9Pz5PLq7OJ0fplowkWfcKwZLTRTKeW6RCSjIp6bF0IXKWJFXmVEC0qLnPO0yDKdpTiWyssq40grRA_Aj0m38-7vYEIvGxu0qWvVGjcESTGijCPGSUS__4PeusG38XcbKhoTyiJFJkp7F4I3ley8bZQfJUbyJTE5JSZjYnKTmLyPS99epYeiMeX7yltEEaATEOJTuzJ-6_0f2WdM4aMM</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3103655234</pqid></control><display><type>article</type><title>Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study</title><source>MEDLINE</source><source>SpringerNature Journals</source><creator>Aboelroos, Sara A. ; Segaey, Dina Gamal El ; Elgawad, Amr Kamal Abd ; Orabi, Marwa ; Mohamed, Marwa Hussein ; Hassan, Nashwa R.</creator><creatorcontrib>Aboelroos, Sara A. ; Segaey, Dina Gamal El ; Elgawad, Amr Kamal Abd ; Orabi, Marwa ; Mohamed, Marwa Hussein ; Hassan, Nashwa R.</creatorcontrib><description>Stroke is the second leading cause of death and a major contributor to disability worldwide, with the highest prevalence in developing countries. Ischemic stroke (IS) is a complex disease resulting from genetic and environmental interactions. The present work is a pilot study exploring the association of estrogen receptor-α (
ESR1
) and aryl hydrocarbon receptor (
AHR
) SNPs with IS in a small Egyptian population of IS patients. Sixty IS patients and 60 matched healthy controls were included in this case–control study. Genotyping of
ESR1
PvuII (rs2234693),
ESR1
XbaI (rs9340799), and
AHR
rs2066853 SNPs was performed using real-time PCR.
ESR1
PvuII TC and CC genotypes were associated with IS (odds ratio (OR) = 2.821, 95% confidence interval (CI) = 1.204–6.609,
p
= 0.017, and OR = 9.455, 95% CI = 2.222–40.237,
p
= 0.002, respectively), and TC genotype in female IS (OR = 4.018, 95% CI = 1.117–14.455,
p
= 0.033). Additionally,
ESR1
XbaI GA and GG genotypes were associated with IS (OR = 2.833, 95% CI = 1.190–6.749,
p
= 0.019, and OR = 34.000, 95% CI = 6.965–165.980,
p
< 0.001, respectively), and the AG and GG genotypes in male IS (OR = 3.378, 95% CI = 1.103–10.347,
p
= 0.033 and OR = 22.8, 95% CI = 2.580–201.488,
p
= 0.005, respectively) and the GG genotype in female IS (95% CI = 7.259–1115.914,
p
< 0.001).
ESR1
PvuII and XbaI haplotypes C—A, T—G, and C—A increased the risk of IS in both genders, in male IS, and in female IS apart from C—A. The AG genotype of
AHR
rs2066853 was associated with male IS (OR = 6.900, 95% CI = 2.120–22.457
p
= 0.001).
ESR1
PvuII,
ESR1
XbaI, and
AHR
rs2066853 SNPs are associated with IS in Egyptians. However, this is a small sample, and the findings should be replicated in a larger population.</description><identifier>ISSN: 1559-1166</identifier><identifier>ISSN: 0895-8696</identifier><identifier>EISSN: 1559-1166</identifier><identifier>DOI: 10.1007/s12031-024-02255-x</identifier><identifier>PMID: 39264466</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Aged ; Aromatic compounds ; Basic Helix-Loop-Helix Transcription Factors - genetics ; Biomedical and Life Sciences ; Biomedicine ; Case-Control Studies ; Cell Biology ; Developing countries ; Egypt ; Estrogen Receptor alpha - genetics ; Estrogen receptors ; Estrogens ; Female ; Females ; Gene polymorphism ; Genotype & phenotype ; Genotypes ; Genotyping ; Haplotypes ; Humans ; Hydrocarbons ; Ischemia ; Ischemic Stroke - epidemiology ; Ischemic Stroke - genetics ; LDCs ; Male ; Males ; Middle Aged ; Neurochemistry ; Neurology ; Neurosciences ; Pilot Projects ; Polymorphism, Single Nucleotide ; Population studies ; Proteomics ; Real time ; Receptors ; Receptors, Aryl Hydrocarbon - genetics ; Single-nucleotide polymorphism ; Stroke</subject><ispartof>Journal of molecular neuroscience, 2024-09, Vol.74 (3), p.85, Article 85</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c256t-51c43bc4a735cd028365599b6cb704b9f82c633b9557b88c871c87a9df850ca03</cites><orcidid>0009-0007-1433-8650</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s12031-024-02255-x$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12031-024-02255-x$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39264466$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Aboelroos, Sara A.</creatorcontrib><creatorcontrib>Segaey, Dina Gamal El</creatorcontrib><creatorcontrib>Elgawad, Amr Kamal Abd</creatorcontrib><creatorcontrib>Orabi, Marwa</creatorcontrib><creatorcontrib>Mohamed, Marwa Hussein</creatorcontrib><creatorcontrib>Hassan, Nashwa R.</creatorcontrib><title>Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study</title><title>Journal of molecular neuroscience</title><addtitle>J Mol Neurosci</addtitle><addtitle>J Mol Neurosci</addtitle><description>Stroke is the second leading cause of death and a major contributor to disability worldwide, with the highest prevalence in developing countries. Ischemic stroke (IS) is a complex disease resulting from genetic and environmental interactions. The present work is a pilot study exploring the association of estrogen receptor-α (
ESR1
) and aryl hydrocarbon receptor (
AHR
) SNPs with IS in a small Egyptian population of IS patients. Sixty IS patients and 60 matched healthy controls were included in this case–control study. Genotyping of
ESR1
PvuII (rs2234693),
ESR1
XbaI (rs9340799), and
AHR
rs2066853 SNPs was performed using real-time PCR.
ESR1
PvuII TC and CC genotypes were associated with IS (odds ratio (OR) = 2.821, 95% confidence interval (CI) = 1.204–6.609,
p
= 0.017, and OR = 9.455, 95% CI = 2.222–40.237,
p
= 0.002, respectively), and TC genotype in female IS (OR = 4.018, 95% CI = 1.117–14.455,
p
= 0.033). Additionally,
ESR1
XbaI GA and GG genotypes were associated with IS (OR = 2.833, 95% CI = 1.190–6.749,
p
= 0.019, and OR = 34.000, 95% CI = 6.965–165.980,
p
< 0.001, respectively), and the AG and GG genotypes in male IS (OR = 3.378, 95% CI = 1.103–10.347,
p
= 0.033 and OR = 22.8, 95% CI = 2.580–201.488,
p
= 0.005, respectively) and the GG genotype in female IS (95% CI = 7.259–1115.914,
p
< 0.001).
ESR1
PvuII and XbaI haplotypes C—A, T—G, and C—A increased the risk of IS in both genders, in male IS, and in female IS apart from C—A. The AG genotype of
AHR
rs2066853 was associated with male IS (OR = 6.900, 95% CI = 2.120–22.457
p
= 0.001).
ESR1
PvuII,
ESR1
XbaI, and
AHR
rs2066853 SNPs are associated with IS in Egyptians. However, this is a small sample, and the findings should be replicated in a larger population.</description><subject>Aged</subject><subject>Aromatic compounds</subject><subject>Basic Helix-Loop-Helix Transcription Factors - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Case-Control Studies</subject><subject>Cell Biology</subject><subject>Developing countries</subject><subject>Egypt</subject><subject>Estrogen Receptor alpha - genetics</subject><subject>Estrogen receptors</subject><subject>Estrogens</subject><subject>Female</subject><subject>Females</subject><subject>Gene polymorphism</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Genotyping</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Hydrocarbons</subject><subject>Ischemia</subject><subject>Ischemic Stroke - epidemiology</subject><subject>Ischemic Stroke - genetics</subject><subject>LDCs</subject><subject>Male</subject><subject>Males</subject><subject>Middle Aged</subject><subject>Neurochemistry</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Pilot Projects</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population studies</subject><subject>Proteomics</subject><subject>Real time</subject><subject>Receptors</subject><subject>Receptors, Aryl Hydrocarbon - genetics</subject><subject>Single-nucleotide polymorphism</subject><subject>Stroke</subject><issn>1559-1166</issn><issn>0895-8696</issn><issn>1559-1166</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1O3DAUha2qiAHKC3RRWeqmm4D_k7AboSkgITEqdG05jjNjmsSpnQjyGrwJL8IzYSbAoC66uLpX8nfP8dUB4CtGRxih9DhggihOEGGxCOfJ_SewhznPE4yF-PxhnoH9EG4RIpjhbBfMaE4EY0LsgYd5CE5b1VvXQlfBRei9W5kW_jLadL3zydMjVG0J536s4flYeqeVL9wWgGemNXDp6rFxvlvb0AR4Z_s1vAh6bRqr4XWU_GOgbaMQXKzGrrdxWLpuqDe-J3AOl7Z2fSSHcvwCdipVB3P42g_A75-Lm9Pz5PLq7OJ0fplowkWfcKwZLTRTKeW6RCSjIp6bF0IXKWJFXmVEC0qLnPO0yDKdpTiWyssq40grRA_Aj0m38-7vYEIvGxu0qWvVGjcESTGijCPGSUS__4PeusG38XcbKhoTyiJFJkp7F4I3ley8bZQfJUbyJTE5JSZjYnKTmLyPS99epYeiMeX7yltEEaATEOJTuzJ-6_0f2WdM4aMM</recordid><startdate>20240912</startdate><enddate>20240912</enddate><creator>Aboelroos, Sara A.</creator><creator>Segaey, Dina Gamal El</creator><creator>Elgawad, Amr Kamal Abd</creator><creator>Orabi, Marwa</creator><creator>Mohamed, Marwa Hussein</creator><creator>Hassan, Nashwa R.</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QL</scope><scope>7QR</scope><scope>7T7</scope><scope>7TK</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>P64</scope><scope>7X8</scope><orcidid>https://orcid.org/0009-0007-1433-8650</orcidid></search><sort><creationdate>20240912</creationdate><title>Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study</title><author>Aboelroos, Sara A. ; Segaey, Dina Gamal El ; Elgawad, Amr Kamal Abd ; Orabi, Marwa ; Mohamed, Marwa Hussein ; Hassan, Nashwa R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c256t-51c43bc4a735cd028365599b6cb704b9f82c633b9557b88c871c87a9df850ca03</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Aged</topic><topic>Aromatic compounds</topic><topic>Basic Helix-Loop-Helix Transcription Factors - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Case-Control Studies</topic><topic>Cell Biology</topic><topic>Developing countries</topic><topic>Egypt</topic><topic>Estrogen Receptor alpha - genetics</topic><topic>Estrogen receptors</topic><topic>Estrogens</topic><topic>Female</topic><topic>Females</topic><topic>Gene polymorphism</topic><topic>Genotype & phenotype</topic><topic>Genotypes</topic><topic>Genotyping</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>Hydrocarbons</topic><topic>Ischemia</topic><topic>Ischemic Stroke - epidemiology</topic><topic>Ischemic Stroke - genetics</topic><topic>LDCs</topic><topic>Male</topic><topic>Males</topic><topic>Middle Aged</topic><topic>Neurochemistry</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Pilot Projects</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population studies</topic><topic>Proteomics</topic><topic>Real time</topic><topic>Receptors</topic><topic>Receptors, Aryl Hydrocarbon - genetics</topic><topic>Single-nucleotide polymorphism</topic><topic>Stroke</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Aboelroos, Sara A.</creatorcontrib><creatorcontrib>Segaey, Dina Gamal El</creatorcontrib><creatorcontrib>Elgawad, Amr Kamal Abd</creatorcontrib><creatorcontrib>Orabi, Marwa</creatorcontrib><creatorcontrib>Mohamed, Marwa Hussein</creatorcontrib><creatorcontrib>Hassan, Nashwa R.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Chemoreception Abstracts</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of molecular neuroscience</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Aboelroos, Sara A.</au><au>Segaey, Dina Gamal El</au><au>Elgawad, Amr Kamal Abd</au><au>Orabi, Marwa</au><au>Mohamed, Marwa Hussein</au><au>Hassan, Nashwa R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study</atitle><jtitle>Journal of molecular neuroscience</jtitle><stitle>J Mol Neurosci</stitle><addtitle>J Mol Neurosci</addtitle><date>2024-09-12</date><risdate>2024</risdate><volume>74</volume><issue>3</issue><spage>85</spage><pages>85-</pages><artnum>85</artnum><issn>1559-1166</issn><issn>0895-8696</issn><eissn>1559-1166</eissn><abstract>Stroke is the second leading cause of death and a major contributor to disability worldwide, with the highest prevalence in developing countries. Ischemic stroke (IS) is a complex disease resulting from genetic and environmental interactions. The present work is a pilot study exploring the association of estrogen receptor-α (
ESR1
) and aryl hydrocarbon receptor (
AHR
) SNPs with IS in a small Egyptian population of IS patients. Sixty IS patients and 60 matched healthy controls were included in this case–control study. Genotyping of
ESR1
PvuII (rs2234693),
ESR1
XbaI (rs9340799), and
AHR
rs2066853 SNPs was performed using real-time PCR.
ESR1
PvuII TC and CC genotypes were associated with IS (odds ratio (OR) = 2.821, 95% confidence interval (CI) = 1.204–6.609,
p
= 0.017, and OR = 9.455, 95% CI = 2.222–40.237,
p
= 0.002, respectively), and TC genotype in female IS (OR = 4.018, 95% CI = 1.117–14.455,
p
= 0.033). Additionally,
ESR1
XbaI GA and GG genotypes were associated with IS (OR = 2.833, 95% CI = 1.190–6.749,
p
= 0.019, and OR = 34.000, 95% CI = 6.965–165.980,
p
< 0.001, respectively), and the AG and GG genotypes in male IS (OR = 3.378, 95% CI = 1.103–10.347,
p
= 0.033 and OR = 22.8, 95% CI = 2.580–201.488,
p
= 0.005, respectively) and the GG genotype in female IS (95% CI = 7.259–1115.914,
p
< 0.001).
ESR1
PvuII and XbaI haplotypes C—A, T—G, and C—A increased the risk of IS in both genders, in male IS, and in female IS apart from C—A. The AG genotype of
AHR
rs2066853 was associated with male IS (OR = 6.900, 95% CI = 2.120–22.457
p
= 0.001).
ESR1
PvuII,
ESR1
XbaI, and
AHR
rs2066853 SNPs are associated with IS in Egyptians. However, this is a small sample, and the findings should be replicated in a larger population.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>39264466</pmid><doi>10.1007/s12031-024-02255-x</doi><orcidid>https://orcid.org/0009-0007-1433-8650</orcidid></addata></record> |
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subjects | Aged Aromatic compounds Basic Helix-Loop-Helix Transcription Factors - genetics Biomedical and Life Sciences Biomedicine Case-Control Studies Cell Biology Developing countries Egypt Estrogen Receptor alpha - genetics Estrogen receptors Estrogens Female Females Gene polymorphism Genotype & phenotype Genotypes Genotyping Haplotypes Humans Hydrocarbons Ischemia Ischemic Stroke - epidemiology Ischemic Stroke - genetics LDCs Male Males Middle Aged Neurochemistry Neurology Neurosciences Pilot Projects Polymorphism, Single Nucleotide Population studies Proteomics Real time Receptors Receptors, Aryl Hydrocarbon - genetics Single-nucleotide polymorphism Stroke |
title | Association of Estrogen Receptor-α and Aryl Hydrocarbon Receptor Gene Polymorphisms with Ischemic Stroke in an Egyptian Population: A Pilot Study |
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