Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study
Vitiligo is an acquired depigmentation disorder, and reactive oxygen species play an important role in melanocyte damage. Base excision repair is the major pathway responsible for removing reactive oxygen species-induced DNA damage, in which APE1, ADPRT, and XRCC1 play key roles. To investigate the...
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| Veröffentlicht in: | Free radical biology & medicine 2013-05, Vol.58, p.64-72 |
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| creator | Wei, Chao Jian, Zhe Wang, Lin Qiang, Huini Shi, Qiong Guo, Sen Li, Kai Huang, Ye Liu, Ling Li, Qiang Luan, Qi Yi, Xiuli Li, Xia Wang, Gang Gao, Tianwen Li, Chunying |
| description | Vitiligo is an acquired depigmentation disorder, and reactive oxygen species play an important role in melanocyte damage. Base excision repair is the major pathway responsible for removing reactive oxygen species-induced DNA damage, in which APE1, ADPRT, and XRCC1 play key roles. To investigate the association between genetic variations of these genes and the risk of vitiligo in Chinese populations, we genotyped APE1-Asp148Glu, ADPRT-Val762Ala, and XRCC1-Arg399Gln polymorphisms and measured serum 8-OHdG levels in a hospital-based case–control study. We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjusted odds ratio (OR) 1.24; 95% confidence interval (CI) 1.02–1.52) and Glu/Glu genotypes (adjusted OR 1.48; 95% CI 1.13–1.93), compared with the APE1 Asp/Asp genotype, whereas no vitiligo risk was associated with the genotypes ADPRT-Val762Ala and XRCC1-Arg399Gln. Furthermore, serum 8-OHdG levels were elevated in the APE1-148Glu allele carriers (Asp/Glu+Glu/Glu), in an allele dose-response manner, with the risk of vitiligo (Ptrend |
| doi_str_mv | 10.1016/j.freeradbiomed.2013.01.009 |
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| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1325330372</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0891584913000191</els_id><sourcerecordid>1325330372</sourcerecordid><originalsourceid>FETCH-LOGICAL-c383t-d9bc391b8e43694aeae13ec3d2b9c3930193f2320db91a05a62686c77cbe62ba3</originalsourceid><addsrcrecordid>eNqNkM2O0zAURi0EYjoDr4AssWGTYPvmz7CqqjKDNBIsYG059s3UJY2D7VSqxIJ34A15EhLaWbBjZcvf-XztQ8hrznLOePV2n3cBMWjbOn9AmwvGIWc8Z0w-ISve1JAVpayekhVrJM_KppBX5DrGPWOsKKF5Tq4EQCXrslmRH7c4YHKGHnVwekiR-o6mHdL15y2nD3NI9WD_ngQXvy3p0SXXuwdP3UA13ezcgBHp6Mep18n54R1dL0WfTiP-_vlr3F321PgQ8MzQmCZ7ekGedbqP-PKy3pCvH7ZfNnfZ_afbj5v1fWaggZRZ2RqQvG2wmJ9daNTIAQ1Y0co5AMYldAIEs63kmpW6ElVTmbo2LVai1XBD3pzvHYP_PmFM6uCiwb7XA_opKg6iBGBQixl9f0ZN8DEG7NQY3EGHk-JMLfrVXv2jXy36FeNq1j-3X10GTe2SPXYffc_A9gzg_N2jw6CicTgYtC6gScp691-D_gBmIKBx</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1325330372</pqid></control><display><type>article</type><title>Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study</title><source>MEDLINE</source><source>Elsevier ScienceDirect Journals</source><creator>Wei, Chao ; Jian, Zhe ; Wang, Lin ; Qiang, Huini ; Shi, Qiong ; Guo, Sen ; Li, Kai ; Huang, Ye ; Liu, Ling ; Li, Qiang ; Luan, Qi ; Yi, Xiuli ; Li, Xia ; Wang, Gang ; Gao, Tianwen ; Li, Chunying</creator><creatorcontrib>Wei, Chao ; Jian, Zhe ; Wang, Lin ; Qiang, Huini ; Shi, Qiong ; Guo, Sen ; Li, Kai ; Huang, Ye ; Liu, Ling ; Li, Qiang ; Luan, Qi ; Yi, Xiuli ; Li, Xia ; Wang, Gang ; Gao, Tianwen ; Li, Chunying</creatorcontrib><description>Vitiligo is an acquired depigmentation disorder, and reactive oxygen species play an important role in melanocyte damage. Base excision repair is the major pathway responsible for removing reactive oxygen species-induced DNA damage, in which APE1, ADPRT, and XRCC1 play key roles. To investigate the association between genetic variations of these genes and the risk of vitiligo in Chinese populations, we genotyped APE1-Asp148Glu, ADPRT-Val762Ala, and XRCC1-Arg399Gln polymorphisms and measured serum 8-OHdG levels in a hospital-based case–control study. We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjusted odds ratio (OR) 1.24; 95% confidence interval (CI) 1.02–1.52) and Glu/Glu genotypes (adjusted OR 1.48; 95% CI 1.13–1.93), compared with the APE1 Asp/Asp genotype, whereas no vitiligo risk was associated with the genotypes ADPRT-Val762Ala and XRCC1-Arg399Gln. Furthermore, serum 8-OHdG levels were elevated in the APE1-148Glu allele carriers (Asp/Glu+Glu/Glu), in an allele dose-response manner, with the risk of vitiligo (Ptrend<0.05). In addition, we found that the APE1-148Glu variant increased the 8-OHdG levels of cultured human melanocytes treated with H2O2, without any impact on the endonuclease activity. These data suggest that the APE1-Asp148Glu polymorphism aggravates oxidative stress in human melanocytes and contributes to genetic predisposition to vitiligo in Chinese people.
[Display omitted]
► Associations between variants of APE1 and the risk of vitiligo were investigated. ► The SNP rs3136820 was significantly associated with the risk of vitiligo. ► The Glu variant interacted with higher 8-OHdG levels in the deleterious effects. ► The Glu variant increases oxidative DNA damage and influences the risk of vitiligo.</description><identifier>ISSN: 0891-5849</identifier><identifier>EISSN: 1873-4596</identifier><identifier>DOI: 10.1016/j.freeradbiomed.2013.01.009</identifier><identifier>PMID: 23369758</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>8-OHdG ; Base excision repair ; Cells, Cultured ; China ; Deoxyguanosine - analogs & derivatives ; Deoxyguanosine - blood ; DNA Damage - genetics ; DNA-(Apurinic or Apyrimidinic Site) Lyase - genetics ; Genetic Association Studies ; Genetic polymorphism ; Genetic Predisposition to Disease ; Humans ; Hydrogen Peroxide - pharmacology ; Melanocytes - drug effects ; Melanocytes - metabolism ; Oxidative stress ; Oxidative Stress - drug effects ; Oxidative Stress - genetics ; Poly (ADP-Ribose) Polymerase-1 ; Poly(ADP-ribose) Polymerases - genetics ; Reactive Oxygen Species - blood ; Susceptibility ; Vitiligo ; Vitiligo - blood ; Vitiligo - genetics</subject><ispartof>Free radical biology & medicine, 2013-05, Vol.58, p.64-72</ispartof><rights>2013 Elsevier Inc.</rights><rights>Copyright © 2013 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c383t-d9bc391b8e43694aeae13ec3d2b9c3930193f2320db91a05a62686c77cbe62ba3</citedby><cites>FETCH-LOGICAL-c383t-d9bc391b8e43694aeae13ec3d2b9c3930193f2320db91a05a62686c77cbe62ba3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0891584913000191$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23369758$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wei, Chao</creatorcontrib><creatorcontrib>Jian, Zhe</creatorcontrib><creatorcontrib>Wang, Lin</creatorcontrib><creatorcontrib>Qiang, Huini</creatorcontrib><creatorcontrib>Shi, Qiong</creatorcontrib><creatorcontrib>Guo, Sen</creatorcontrib><creatorcontrib>Li, Kai</creatorcontrib><creatorcontrib>Huang, Ye</creatorcontrib><creatorcontrib>Liu, Ling</creatorcontrib><creatorcontrib>Li, Qiang</creatorcontrib><creatorcontrib>Luan, Qi</creatorcontrib><creatorcontrib>Yi, Xiuli</creatorcontrib><creatorcontrib>Li, Xia</creatorcontrib><creatorcontrib>Wang, Gang</creatorcontrib><creatorcontrib>Gao, Tianwen</creatorcontrib><creatorcontrib>Li, Chunying</creatorcontrib><title>Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study</title><title>Free radical biology & medicine</title><addtitle>Free Radic Biol Med</addtitle><description>Vitiligo is an acquired depigmentation disorder, and reactive oxygen species play an important role in melanocyte damage. Base excision repair is the major pathway responsible for removing reactive oxygen species-induced DNA damage, in which APE1, ADPRT, and XRCC1 play key roles. To investigate the association between genetic variations of these genes and the risk of vitiligo in Chinese populations, we genotyped APE1-Asp148Glu, ADPRT-Val762Ala, and XRCC1-Arg399Gln polymorphisms and measured serum 8-OHdG levels in a hospital-based case–control study. We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjusted odds ratio (OR) 1.24; 95% confidence interval (CI) 1.02–1.52) and Glu/Glu genotypes (adjusted OR 1.48; 95% CI 1.13–1.93), compared with the APE1 Asp/Asp genotype, whereas no vitiligo risk was associated with the genotypes ADPRT-Val762Ala and XRCC1-Arg399Gln. Furthermore, serum 8-OHdG levels were elevated in the APE1-148Glu allele carriers (Asp/Glu+Glu/Glu), in an allele dose-response manner, with the risk of vitiligo (Ptrend<0.05). In addition, we found that the APE1-148Glu variant increased the 8-OHdG levels of cultured human melanocytes treated with H2O2, without any impact on the endonuclease activity. These data suggest that the APE1-Asp148Glu polymorphism aggravates oxidative stress in human melanocytes and contributes to genetic predisposition to vitiligo in Chinese people.
[Display omitted]
► Associations between variants of APE1 and the risk of vitiligo were investigated. ► The SNP rs3136820 was significantly associated with the risk of vitiligo. ► The Glu variant interacted with higher 8-OHdG levels in the deleterious effects. ► The Glu variant increases oxidative DNA damage and influences the risk of vitiligo.</description><subject>8-OHdG</subject><subject>Base excision repair</subject><subject>Cells, Cultured</subject><subject>China</subject><subject>Deoxyguanosine - analogs & derivatives</subject><subject>Deoxyguanosine - blood</subject><subject>DNA Damage - genetics</subject><subject>DNA-(Apurinic or Apyrimidinic Site) Lyase - genetics</subject><subject>Genetic Association Studies</subject><subject>Genetic polymorphism</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Hydrogen Peroxide - pharmacology</subject><subject>Melanocytes - drug effects</subject><subject>Melanocytes - metabolism</subject><subject>Oxidative stress</subject><subject>Oxidative Stress - drug effects</subject><subject>Oxidative Stress - genetics</subject><subject>Poly (ADP-Ribose) Polymerase-1</subject><subject>Poly(ADP-ribose) Polymerases - genetics</subject><subject>Reactive Oxygen Species - blood</subject><subject>Susceptibility</subject><subject>Vitiligo</subject><subject>Vitiligo - blood</subject><subject>Vitiligo - genetics</subject><issn>0891-5849</issn><issn>1873-4596</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkM2O0zAURi0EYjoDr4AssWGTYPvmz7CqqjKDNBIsYG059s3UJY2D7VSqxIJ34A15EhLaWbBjZcvf-XztQ8hrznLOePV2n3cBMWjbOn9AmwvGIWc8Z0w-ISve1JAVpayekhVrJM_KppBX5DrGPWOsKKF5Tq4EQCXrslmRH7c4YHKGHnVwekiR-o6mHdL15y2nD3NI9WD_ngQXvy3p0SXXuwdP3UA13ezcgBHp6Mep18n54R1dL0WfTiP-_vlr3F321PgQ8MzQmCZ7ekGedbqP-PKy3pCvH7ZfNnfZ_afbj5v1fWaggZRZ2RqQvG2wmJ9daNTIAQ1Y0co5AMYldAIEs63kmpW6ElVTmbo2LVai1XBD3pzvHYP_PmFM6uCiwb7XA_opKg6iBGBQixl9f0ZN8DEG7NQY3EGHk-JMLfrVXv2jXy36FeNq1j-3X10GTe2SPXYffc_A9gzg_N2jw6CicTgYtC6gScp691-D_gBmIKBx</recordid><startdate>201305</startdate><enddate>201305</enddate><creator>Wei, Chao</creator><creator>Jian, Zhe</creator><creator>Wang, Lin</creator><creator>Qiang, Huini</creator><creator>Shi, Qiong</creator><creator>Guo, Sen</creator><creator>Li, Kai</creator><creator>Huang, Ye</creator><creator>Liu, Ling</creator><creator>Li, Qiang</creator><creator>Luan, Qi</creator><creator>Yi, Xiuli</creator><creator>Li, Xia</creator><creator>Wang, Gang</creator><creator>Gao, Tianwen</creator><creator>Li, Chunying</creator><general>Elsevier Inc</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>7X8</scope></search><sort><creationdate>201305</creationdate><title>Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study</title><author>Wei, Chao ; Jian, Zhe ; Wang, Lin ; Qiang, Huini ; Shi, Qiong ; Guo, Sen ; Li, Kai ; Huang, Ye ; Liu, Ling ; Li, Qiang ; Luan, Qi ; Yi, Xiuli ; Li, Xia ; Wang, Gang ; Gao, Tianwen ; Li, Chunying</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c383t-d9bc391b8e43694aeae13ec3d2b9c3930193f2320db91a05a62686c77cbe62ba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>8-OHdG</topic><topic>Base excision repair</topic><topic>Cells, Cultured</topic><topic>China</topic><topic>Deoxyguanosine - analogs & derivatives</topic><topic>Deoxyguanosine - blood</topic><topic>DNA Damage - genetics</topic><topic>DNA-(Apurinic or Apyrimidinic Site) Lyase - genetics</topic><topic>Genetic Association Studies</topic><topic>Genetic polymorphism</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Hydrogen Peroxide - pharmacology</topic><topic>Melanocytes - drug effects</topic><topic>Melanocytes - metabolism</topic><topic>Oxidative stress</topic><topic>Oxidative Stress - drug effects</topic><topic>Oxidative Stress - genetics</topic><topic>Poly (ADP-Ribose) Polymerase-1</topic><topic>Poly(ADP-ribose) Polymerases - genetics</topic><topic>Reactive Oxygen Species - blood</topic><topic>Susceptibility</topic><topic>Vitiligo</topic><topic>Vitiligo - blood</topic><topic>Vitiligo - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wei, Chao</creatorcontrib><creatorcontrib>Jian, Zhe</creatorcontrib><creatorcontrib>Wang, Lin</creatorcontrib><creatorcontrib>Qiang, Huini</creatorcontrib><creatorcontrib>Shi, Qiong</creatorcontrib><creatorcontrib>Guo, Sen</creatorcontrib><creatorcontrib>Li, Kai</creatorcontrib><creatorcontrib>Huang, Ye</creatorcontrib><creatorcontrib>Liu, Ling</creatorcontrib><creatorcontrib>Li, Qiang</creatorcontrib><creatorcontrib>Luan, Qi</creatorcontrib><creatorcontrib>Yi, Xiuli</creatorcontrib><creatorcontrib>Li, Xia</creatorcontrib><creatorcontrib>Wang, Gang</creatorcontrib><creatorcontrib>Gao, Tianwen</creatorcontrib><creatorcontrib>Li, Chunying</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Free radical biology & medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wei, Chao</au><au>Jian, Zhe</au><au>Wang, Lin</au><au>Qiang, Huini</au><au>Shi, Qiong</au><au>Guo, Sen</au><au>Li, Kai</au><au>Huang, Ye</au><au>Liu, Ling</au><au>Li, Qiang</au><au>Luan, Qi</au><au>Yi, Xiuli</au><au>Li, Xia</au><au>Wang, Gang</au><au>Gao, Tianwen</au><au>Li, Chunying</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study</atitle><jtitle>Free radical biology & medicine</jtitle><addtitle>Free Radic Biol Med</addtitle><date>2013-05</date><risdate>2013</risdate><volume>58</volume><spage>64</spage><epage>72</epage><pages>64-72</pages><issn>0891-5849</issn><eissn>1873-4596</eissn><abstract>Vitiligo is an acquired depigmentation disorder, and reactive oxygen species play an important role in melanocyte damage. Base excision repair is the major pathway responsible for removing reactive oxygen species-induced DNA damage, in which APE1, ADPRT, and XRCC1 play key roles. To investigate the association between genetic variations of these genes and the risk of vitiligo in Chinese populations, we genotyped APE1-Asp148Glu, ADPRT-Val762Ala, and XRCC1-Arg399Gln polymorphisms and measured serum 8-OHdG levels in a hospital-based case–control study. We found that a significantly increased risk of vitiligo was associated with the APE1 Asp/Glu (adjusted odds ratio (OR) 1.24; 95% confidence interval (CI) 1.02–1.52) and Glu/Glu genotypes (adjusted OR 1.48; 95% CI 1.13–1.93), compared with the APE1 Asp/Asp genotype, whereas no vitiligo risk was associated with the genotypes ADPRT-Val762Ala and XRCC1-Arg399Gln. Furthermore, serum 8-OHdG levels were elevated in the APE1-148Glu allele carriers (Asp/Glu+Glu/Glu), in an allele dose-response manner, with the risk of vitiligo (Ptrend<0.05). In addition, we found that the APE1-148Glu variant increased the 8-OHdG levels of cultured human melanocytes treated with H2O2, without any impact on the endonuclease activity. These data suggest that the APE1-Asp148Glu polymorphism aggravates oxidative stress in human melanocytes and contributes to genetic predisposition to vitiligo in Chinese people.
[Display omitted]
► Associations between variants of APE1 and the risk of vitiligo were investigated. ► The SNP rs3136820 was significantly associated with the risk of vitiligo. ► The Glu variant interacted with higher 8-OHdG levels in the deleterious effects. ► The Glu variant increases oxidative DNA damage and influences the risk of vitiligo.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>23369758</pmid><doi>10.1016/j.freeradbiomed.2013.01.009</doi><tpages>9</tpages></addata></record> |
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| subjects | 8-OHdG Base excision repair Cells, Cultured China Deoxyguanosine - analogs & derivatives Deoxyguanosine - blood DNA Damage - genetics DNA-(Apurinic or Apyrimidinic Site) Lyase - genetics Genetic Association Studies Genetic polymorphism Genetic Predisposition to Disease Humans Hydrogen Peroxide - pharmacology Melanocytes - drug effects Melanocytes - metabolism Oxidative stress Oxidative Stress - drug effects Oxidative Stress - genetics Poly (ADP-Ribose) Polymerase-1 Poly(ADP-ribose) Polymerases - genetics Reactive Oxygen Species - blood Susceptibility Vitiligo Vitiligo - blood Vitiligo - genetics |
| title | Genetic variants of the APE1 gene and the risk of vitiligo in a Chinese population: A genotype–phenotype correlation study |
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