Influence of GSTP1 rs1695 polymorphism on survival in male patients’ amyotrophic lateral sclerosis: a genetic association study in Brazilian population
Background Glutathione S -transferase Pi (GSTP1) enzyme has a major antioxidant effect on the central nervous system (CNS), where it acts against oxidative damage, an established risk factor for amyotrophic lateral sclerosis (ALS). Hence, the purpose of this study was to evaluate a possible relation...
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description | Background
Glutathione
S
-transferase Pi (GSTP1) enzyme has a major antioxidant effect on the central nervous system (CNS), where it acts against oxidative damage, an established risk factor for amyotrophic lateral sclerosis (ALS). Hence, the purpose of this study was to evaluate a possible relationship between
GSTP1
rs1695 polymorphism and the survival rate of male ALS patients, which is the gender more affected by the disease.
Methods and results
A case-control study was performed with 56 male ALS patients and 70 healthy male individuals from Midwestern Brazil, which were age-adjusted.
GSTP1
rs1695 polymorphism molecular analysis was carried out with restriction fragment length polymorphism. The relationship between ALS patients and
GSTP1
rs1695 polymorphism was analyzed using cumulative survival rate as the major outcome, where differences in survival were evaluated through the log-rank test. Our results revealed that mutant genotype (G/G) did not influence the cumulative survival rate of male ALS patients regarding the age of diagnosis (p = 0.5) and time from symptom to diagnosis (p = 0.3). On the other hand, mutant carriers exhibited a significant survival of fewer than 25 months compared to A/A and A/G genotypes that survive more than 100 months (p = 7−E10) in comparison with symptom onset to outcome (p = 0.00006).
Conclusions
In summary, our findings revealed that mutant genotype carriers’ male patients had a reduced lifetime, which probably may be resulted from oxidative stress exposure in CNS. |
doi_str_mv | 10.1007/s11033-021-06724-z |
format | Article |
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Glutathione
S
-transferase Pi (GSTP1) enzyme has a major antioxidant effect on the central nervous system (CNS), where it acts against oxidative damage, an established risk factor for amyotrophic lateral sclerosis (ALS). Hence, the purpose of this study was to evaluate a possible relationship between
GSTP1
rs1695 polymorphism and the survival rate of male ALS patients, which is the gender more affected by the disease.
Methods and results
A case-control study was performed with 56 male ALS patients and 70 healthy male individuals from Midwestern Brazil, which were age-adjusted.
GSTP1
rs1695 polymorphism molecular analysis was carried out with restriction fragment length polymorphism. The relationship between ALS patients and
GSTP1
rs1695 polymorphism was analyzed using cumulative survival rate as the major outcome, where differences in survival were evaluated through the log-rank test. Our results revealed that mutant genotype (G/G) did not influence the cumulative survival rate of male ALS patients regarding the age of diagnosis (p = 0.5) and time from symptom to diagnosis (p = 0.3). On the other hand, mutant carriers exhibited a significant survival of fewer than 25 months compared to A/A and A/G genotypes that survive more than 100 months (p = 7−E10) in comparison with symptom onset to outcome (p = 0.00006).
Conclusions
In summary, our findings revealed that mutant genotype carriers’ male patients had a reduced lifetime, which probably may be resulted from oxidative stress exposure in CNS.</description><identifier>ISSN: 0301-4851</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-021-06724-z</identifier><identifier>PMID: 34623592</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Adult ; Amyotrophic lateral sclerosis ; Amyotrophic Lateral Sclerosis - genetics ; Amyotrophic Lateral Sclerosis - metabolism ; Animal Anatomy ; Animal Biochemistry ; Antioxidants ; Biomedical and Life Sciences ; Brazil - epidemiology ; Case-Control Studies ; Central nervous system ; Diagnosis ; Gene polymorphism ; Genetic Association Studies - methods ; Genetic Predisposition to Disease ; Genotype ; Glutathione S-Transferase pi - genetics ; Glutathione S-Transferase pi - metabolism ; Glutathione transferase ; Histology ; Humans ; Life Sciences ; Male ; Middle Aged ; Morphology ; Mutants ; Oxidative stress ; Polymorphism ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide - genetics ; Population studies ; Rapid Communication ; Restriction fragment length polymorphism ; Risk Factors ; Survival</subject><ispartof>Molecular biology reports, 2022-02, Vol.49 (2), p.1655-1659</ispartof><rights>The Author(s), under exclusive licence to Springer Nature B.V. 2021</rights><rights>2021. The Author(s), under exclusive licence to Springer Nature B.V.</rights><rights>The Author(s), under exclusive licence to Springer Nature B.V. 2021.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-5df99317389e8c8452fd34be8893640abebef378a2bcaa3546a7a6d87af670263</citedby><cites>FETCH-LOGICAL-c375t-5df99317389e8c8452fd34be8893640abebef378a2bcaa3546a7a6d87af670263</cites><orcidid>0000-0001-8895-2628 ; 0000-0002-8281-7334 ; 0000-0002-0555-3072 ; 0000-0002-1743-8151 ; 0000-0002-0377-3004 ; 0000-0002-9480-4362</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/s11033-021-06724-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11033-021-06724-z$$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/34623592$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>de Sousa Barros, Jéssica Barletto</creatorcontrib><creatorcontrib>de Faria Santos, Kamilla</creatorcontrib><creatorcontrib>da Cruz Pereira Bento, Dhiogo</creatorcontrib><creatorcontrib>Prado Assunção, Leandro do</creatorcontrib><creatorcontrib>da Silva Santos, Rodrigo</creatorcontrib><creatorcontrib>da Silva Reis, Angela Adamski</creatorcontrib><title>Influence of GSTP1 rs1695 polymorphism on survival in male patients’ amyotrophic lateral sclerosis: a genetic association study in Brazilian population</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><description>Background
Glutathione
S
-transferase Pi (GSTP1) enzyme has a major antioxidant effect on the central nervous system (CNS), where it acts against oxidative damage, an established risk factor for amyotrophic lateral sclerosis (ALS). Hence, the purpose of this study was to evaluate a possible relationship between
GSTP1
rs1695 polymorphism and the survival rate of male ALS patients, which is the gender more affected by the disease.
Methods and results
A case-control study was performed with 56 male ALS patients and 70 healthy male individuals from Midwestern Brazil, which were age-adjusted.
GSTP1
rs1695 polymorphism molecular analysis was carried out with restriction fragment length polymorphism. The relationship between ALS patients and
GSTP1
rs1695 polymorphism was analyzed using cumulative survival rate as the major outcome, where differences in survival were evaluated through the log-rank test. Our results revealed that mutant genotype (G/G) did not influence the cumulative survival rate of male ALS patients regarding the age of diagnosis (p = 0.5) and time from symptom to diagnosis (p = 0.3). On the other hand, mutant carriers exhibited a significant survival of fewer than 25 months compared to A/A and A/G genotypes that survive more than 100 months (p = 7−E10) in comparison with symptom onset to outcome (p = 0.00006).
Conclusions
In summary, our findings revealed that mutant genotype carriers’ male patients had a reduced lifetime, which probably may be resulted from oxidative stress exposure in CNS.</description><subject>Adult</subject><subject>Amyotrophic lateral sclerosis</subject><subject>Amyotrophic Lateral Sclerosis - genetics</subject><subject>Amyotrophic Lateral Sclerosis - metabolism</subject><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>Antioxidants</subject><subject>Biomedical and Life Sciences</subject><subject>Brazil - epidemiology</subject><subject>Case-Control Studies</subject><subject>Central nervous system</subject><subject>Diagnosis</subject><subject>Gene polymorphism</subject><subject>Genetic Association Studies - methods</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Glutathione S-Transferase pi - genetics</subject><subject>Glutathione S-Transferase pi - metabolism</subject><subject>Glutathione transferase</subject><subject>Histology</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Morphology</subject><subject>Mutants</subject><subject>Oxidative stress</subject><subject>Polymorphism</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Population studies</subject><subject>Rapid Communication</subject><subject>Restriction fragment length polymorphism</subject><subject>Risk Factors</subject><subject>Survival</subject><issn>0301-4851</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kc1u1DAUhS0EokPhBVggS2zYBPxvhx2toFSqBBJlbTnJTXHl2MFOKs2seI2-Hk-Cp1NAYsHKi_Odc33vQeg5Ja8pIfpNoZRw3hBGG6I0E83uAdpQqXkjWm0eog3hhDbCSHqEnpRyTQgRVMvH6IgLxbhs2QbdnscxrBB7wGnEZ18uP1OcC1WtxHMK2ynl-ZsvE04RlzXf-BsXsI94cgHw7BYPcSk_f9xiN23TklOFexzcArlypQ-QU_HlLXb4CiIsVXSlpN5X5z5xWYftPu4ku50P3sU6dF7DnfoUPRpdKPDs_j1GXz-8vzz92Fx8Ojs_fXfR9FzLpZHD2Lacam5aML0Rko0DFx0Y03IliOugg5Fr41jXO8elUE47NRjtRqUJU_wYvTrkzjl9X6EsdvKlhxBchLQWy6Qh9RxKi4q-_Ae9TmuO9XeWKab2V2eyUuxA9XX5kmG0c_aTy1tLid0XZw_F2VqcvSvO7qrpxX302k0w_LH8bqoC_ACUKsUryH9n_yf2F-Q8pzI</recordid><startdate>20220201</startdate><enddate>20220201</enddate><creator>de Sousa Barros, Jéssica Barletto</creator><creator>de Faria Santos, Kamilla</creator><creator>da Cruz Pereira Bento, Dhiogo</creator><creator>Prado Assunção, Leandro do</creator><creator>da Silva Santos, Rodrigo</creator><creator>da Silva Reis, Angela Adamski</creator><general>Springer Netherlands</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>3V.</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-8895-2628</orcidid><orcidid>https://orcid.org/0000-0002-8281-7334</orcidid><orcidid>https://orcid.org/0000-0002-0555-3072</orcidid><orcidid>https://orcid.org/0000-0002-1743-8151</orcidid><orcidid>https://orcid.org/0000-0002-0377-3004</orcidid><orcidid>https://orcid.org/0000-0002-9480-4362</orcidid></search><sort><creationdate>20220201</creationdate><title>Influence of GSTP1 rs1695 polymorphism on survival in male patients’ amyotrophic lateral sclerosis: a genetic association study in Brazilian population</title><author>de Sousa Barros, Jéssica Barletto ; de Faria Santos, Kamilla ; da Cruz Pereira Bento, Dhiogo ; Prado Assunção, Leandro do ; da Silva Santos, Rodrigo ; da Silva Reis, Angela Adamski</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-5df99317389e8c8452fd34be8893640abebef378a2bcaa3546a7a6d87af670263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Adult</topic><topic>Amyotrophic lateral sclerosis</topic><topic>Amyotrophic Lateral Sclerosis - genetics</topic><topic>Amyotrophic Lateral Sclerosis - metabolism</topic><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>Antioxidants</topic><topic>Biomedical and Life Sciences</topic><topic>Brazil - epidemiology</topic><topic>Case-Control Studies</topic><topic>Central nervous system</topic><topic>Diagnosis</topic><topic>Gene polymorphism</topic><topic>Genetic Association Studies - methods</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Glutathione S-Transferase pi - genetics</topic><topic>Glutathione S-Transferase pi - metabolism</topic><topic>Glutathione transferase</topic><topic>Histology</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Morphology</topic><topic>Mutants</topic><topic>Oxidative stress</topic><topic>Polymorphism</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Population studies</topic><topic>Rapid Communication</topic><topic>Restriction fragment length polymorphism</topic><topic>Risk Factors</topic><topic>Survival</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>de Sousa Barros, Jéssica Barletto</creatorcontrib><creatorcontrib>de Faria Santos, Kamilla</creatorcontrib><creatorcontrib>da Cruz Pereira Bento, Dhiogo</creatorcontrib><creatorcontrib>Prado Assunção, Leandro do</creatorcontrib><creatorcontrib>da Silva Santos, Rodrigo</creatorcontrib><creatorcontrib>da Silva Reis, Angela Adamski</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>de Sousa Barros, Jéssica Barletto</au><au>de Faria Santos, Kamilla</au><au>da Cruz Pereira Bento, Dhiogo</au><au>Prado Assunção, Leandro do</au><au>da Silva Santos, Rodrigo</au><au>da Silva Reis, Angela Adamski</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Influence of GSTP1 rs1695 polymorphism on survival in male patients’ amyotrophic lateral sclerosis: a genetic association study in Brazilian population</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2022-02-01</date><risdate>2022</risdate><volume>49</volume><issue>2</issue><spage>1655</spage><epage>1659</epage><pages>1655-1659</pages><issn>0301-4851</issn><eissn>1573-4978</eissn><abstract>Background
Glutathione
S
-transferase Pi (GSTP1) enzyme has a major antioxidant effect on the central nervous system (CNS), where it acts against oxidative damage, an established risk factor for amyotrophic lateral sclerosis (ALS). Hence, the purpose of this study was to evaluate a possible relationship between
GSTP1
rs1695 polymorphism and the survival rate of male ALS patients, which is the gender more affected by the disease.
Methods and results
A case-control study was performed with 56 male ALS patients and 70 healthy male individuals from Midwestern Brazil, which were age-adjusted.
GSTP1
rs1695 polymorphism molecular analysis was carried out with restriction fragment length polymorphism. The relationship between ALS patients and
GSTP1
rs1695 polymorphism was analyzed using cumulative survival rate as the major outcome, where differences in survival were evaluated through the log-rank test. Our results revealed that mutant genotype (G/G) did not influence the cumulative survival rate of male ALS patients regarding the age of diagnosis (p = 0.5) and time from symptom to diagnosis (p = 0.3). On the other hand, mutant carriers exhibited a significant survival of fewer than 25 months compared to A/A and A/G genotypes that survive more than 100 months (p = 7−E10) in comparison with symptom onset to outcome (p = 0.00006).
Conclusions
In summary, our findings revealed that mutant genotype carriers’ male patients had a reduced lifetime, which probably may be resulted from oxidative stress exposure in CNS.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>34623592</pmid><doi>10.1007/s11033-021-06724-z</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-8895-2628</orcidid><orcidid>https://orcid.org/0000-0002-8281-7334</orcidid><orcidid>https://orcid.org/0000-0002-0555-3072</orcidid><orcidid>https://orcid.org/0000-0002-1743-8151</orcidid><orcidid>https://orcid.org/0000-0002-0377-3004</orcidid><orcidid>https://orcid.org/0000-0002-9480-4362</orcidid></addata></record> |
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subjects | Adult Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - metabolism Animal Anatomy Animal Biochemistry Antioxidants Biomedical and Life Sciences Brazil - epidemiology Case-Control Studies Central nervous system Diagnosis Gene polymorphism Genetic Association Studies - methods Genetic Predisposition to Disease Genotype Glutathione S-Transferase pi - genetics Glutathione S-Transferase pi - metabolism Glutathione transferase Histology Humans Life Sciences Male Middle Aged Morphology Mutants Oxidative stress Polymorphism Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide - genetics Population studies Rapid Communication Restriction fragment length polymorphism Risk Factors Survival |
title | Influence of GSTP1 rs1695 polymorphism on survival in male patients’ amyotrophic lateral sclerosis: a genetic association study in Brazilian population |
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