Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico
BACKGROUND Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivat...
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| Veröffentlicht in: | Birth defects research. A Clinical and molecular teratology 2010-11, Vol.88 (11), p.987-994 |
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| container_title | Birth defects research. A Clinical and molecular teratology |
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| creator | Gonzalez-Herrera, Lizbeth Martín Cerda-Flores, Ricardo Luna-Rivero, Marianne Canto-Herrera, Jorge Pinto-Escalante, Doris Perez-Herrera, Norma Quintanilla-Vega, Betzabet |
| description | BACKGROUND
Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivation of organophosphates (OP) in the central nervous system. Polymorphisms of PON1 genes influence the catalytic activity and plasma protein level of the enzyme, therefore, genotypic characterization of PON1 gene represents a potential predictor for susceptibility to OP‐related effects.
METHODS
The frequency of PON1 haplotypes and polymorphisms (−108CT, L55M, and Q192R) were determined in this study. A case‐control study was performed to evaluate the risk for having offspring affected by SB in 152 cases and 160 control parents. Polymorphisms were determined by PCR amplification and restriction fragment length polymorphism and Real Time‐PCR. Odds ratios and confidence interval 95% were estimated.
RESULTS
Genotype frequencies for the three PON1 polymorphisms were distributed according to Hardy–Weinberg expectations (p > 0.05) and were significantly different between cases and controls (p < 0.05). The heterozygous CT genotype of −108CT polymorphism, the RR genotype of Q192R polymorphism, both LM and MM genotypes of L55M polymorphism, and the haplotypes 221 and 222 (for −108CT, L55M, and Q192R) were associated with the risk for having a child affected by SB (p < 0.02). The heterozygous −108CT genotype was associated only maternally, whereas the heterozygous L55M genotype was relevant only in the fathers. The RR homozygous genotype was relevant both in mothers and fathers, suggesting the importance of this substrate‐specific polymorphism.
CONCLUSION
Results suggest that PON1 polymorphisms are relevant risk factors for having offspring affected with SB in this population from Southeast Mexico. Birth Defects Research (Part A), 2010. © 2010 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/bdra.20727 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1758246329</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1758246329</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3677-ce55583225124691ca0ec48aaf5f4bd392308602936f52ff60166e553bcebbbc3</originalsourceid><addsrcrecordid>eNp9kF1PFDEUhhuiAVy58QeYXhqTwX5s29lLWBQlgERAL5tO59StzEzHdlZ2w5-ny8BeenXOSZ_3Sfoi9I6SQ0oI-1TV0RwyopjaQftUTFlBlCSvtrtge-hNSn8yy5VSu2iPUcKpkHwfPVyZaMIqdCYBprgPzboNsV_41CZsuhovTN-EYd3DeA4LwNGnO-xCzG__fPcbB-dSHzebcQ7sADW-98MCp953Blfe-dpg3-HrsMxxkwZ8AStvw1v02pkmwcHznKDbL59v5l-L8--n3-ZH54XlUqnCghCi5IwJyqZyRq0hYKelMU64aVXzGeOklITNuHSCOScJlTJneGWhqirLJ-jD6O1j-LuENOjWJwtNYzoIy6SpEmU282yYoI8jamNIKYLT-WOtiWtNid6UrTdl66eyM_z-2busWqi36Eu7GaAjcO8bWP9HpY9Pfhy9SIsx49MAq23GxDstFVdC_7o81eX8WF2R2U99xh8B68uaDg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1758246329</pqid></control><display><type>article</type><title>Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Gonzalez-Herrera, Lizbeth ; Martín Cerda-Flores, Ricardo ; Luna-Rivero, Marianne ; Canto-Herrera, Jorge ; Pinto-Escalante, Doris ; Perez-Herrera, Norma ; Quintanilla-Vega, Betzabet</creator><creatorcontrib>Gonzalez-Herrera, Lizbeth ; Martín Cerda-Flores, Ricardo ; Luna-Rivero, Marianne ; Canto-Herrera, Jorge ; Pinto-Escalante, Doris ; Perez-Herrera, Norma ; Quintanilla-Vega, Betzabet</creatorcontrib><description>BACKGROUND
Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivation of organophosphates (OP) in the central nervous system. Polymorphisms of PON1 genes influence the catalytic activity and plasma protein level of the enzyme, therefore, genotypic characterization of PON1 gene represents a potential predictor for susceptibility to OP‐related effects.
METHODS
The frequency of PON1 haplotypes and polymorphisms (−108CT, L55M, and Q192R) were determined in this study. A case‐control study was performed to evaluate the risk for having offspring affected by SB in 152 cases and 160 control parents. Polymorphisms were determined by PCR amplification and restriction fragment length polymorphism and Real Time‐PCR. Odds ratios and confidence interval 95% were estimated.
RESULTS
Genotype frequencies for the three PON1 polymorphisms were distributed according to Hardy–Weinberg expectations (p > 0.05) and were significantly different between cases and controls (p < 0.05). The heterozygous CT genotype of −108CT polymorphism, the RR genotype of Q192R polymorphism, both LM and MM genotypes of L55M polymorphism, and the haplotypes 221 and 222 (for −108CT, L55M, and Q192R) were associated with the risk for having a child affected by SB (p < 0.02). The heterozygous −108CT genotype was associated only maternally, whereas the heterozygous L55M genotype was relevant only in the fathers. The RR homozygous genotype was relevant both in mothers and fathers, suggesting the importance of this substrate‐specific polymorphism.
CONCLUSION
Results suggest that PON1 polymorphisms are relevant risk factors for having offspring affected with SB in this population from Southeast Mexico. Birth Defects Research (Part A), 2010. © 2010 Wiley‐Liss, Inc.</description><identifier>ISSN: 1542-0752</identifier><identifier>EISSN: 1542-0760</identifier><identifier>DOI: 10.1002/bdra.20727</identifier><identifier>PMID: 21031563</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adolescent ; Adult ; Aryldialkylphosphatase - genetics ; Aryldialkylphosphatase - metabolism ; Case-Control Studies ; Child ; Female ; Gene Frequency ; Genotype ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; Male ; Mexico - epidemiology ; Middle Aged ; neural tube defects ; Odds Ratio ; Organophosphates - toxicity ; paraoxonase 1 ; paraoxonase 1, PON1 polymorphisms ; Pesticides - toxicity ; Polymerase Chain Reaction ; Polymorphism, Genetic - genetics ; Polymorphism, Restriction Fragment Length ; PON1 polymorphisms ; Risk Factors ; spina bifida ; Spinal Dysraphism - epidemiology ; Spinal Dysraphism - genetics ; Young Adult ; Yucatán</subject><ispartof>Birth defects research. A Clinical and molecular teratology, 2010-11, Vol.88 (11), p.987-994</ispartof><rights>Copyright © 2010 Wiley‐Liss, Inc.</rights><rights>2010 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3677-ce55583225124691ca0ec48aaf5f4bd392308602936f52ff60166e553bcebbbc3</citedby><cites>FETCH-LOGICAL-c3677-ce55583225124691ca0ec48aaf5f4bd392308602936f52ff60166e553bcebbbc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fbdra.20727$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fbdra.20727$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21031563$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gonzalez-Herrera, Lizbeth</creatorcontrib><creatorcontrib>Martín Cerda-Flores, Ricardo</creatorcontrib><creatorcontrib>Luna-Rivero, Marianne</creatorcontrib><creatorcontrib>Canto-Herrera, Jorge</creatorcontrib><creatorcontrib>Pinto-Escalante, Doris</creatorcontrib><creatorcontrib>Perez-Herrera, Norma</creatorcontrib><creatorcontrib>Quintanilla-Vega, Betzabet</creatorcontrib><title>Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico</title><title>Birth defects research. A Clinical and molecular teratology</title><addtitle>Birth Defects Research Part A: Clinical and Molecular Teratology</addtitle><description>BACKGROUND
Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivation of organophosphates (OP) in the central nervous system. Polymorphisms of PON1 genes influence the catalytic activity and plasma protein level of the enzyme, therefore, genotypic characterization of PON1 gene represents a potential predictor for susceptibility to OP‐related effects.
METHODS
The frequency of PON1 haplotypes and polymorphisms (−108CT, L55M, and Q192R) were determined in this study. A case‐control study was performed to evaluate the risk for having offspring affected by SB in 152 cases and 160 control parents. Polymorphisms were determined by PCR amplification and restriction fragment length polymorphism and Real Time‐PCR. Odds ratios and confidence interval 95% were estimated.
RESULTS
Genotype frequencies for the three PON1 polymorphisms were distributed according to Hardy–Weinberg expectations (p > 0.05) and were significantly different between cases and controls (p < 0.05). The heterozygous CT genotype of −108CT polymorphism, the RR genotype of Q192R polymorphism, both LM and MM genotypes of L55M polymorphism, and the haplotypes 221 and 222 (for −108CT, L55M, and Q192R) were associated with the risk for having a child affected by SB (p < 0.02). The heterozygous −108CT genotype was associated only maternally, whereas the heterozygous L55M genotype was relevant only in the fathers. The RR homozygous genotype was relevant both in mothers and fathers, suggesting the importance of this substrate‐specific polymorphism.
CONCLUSION
Results suggest that PON1 polymorphisms are relevant risk factors for having offspring affected with SB in this population from Southeast Mexico. Birth Defects Research (Part A), 2010. © 2010 Wiley‐Liss, Inc.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aryldialkylphosphatase - genetics</subject><subject>Aryldialkylphosphatase - metabolism</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Mexico - epidemiology</subject><subject>Middle Aged</subject><subject>neural tube defects</subject><subject>Odds Ratio</subject><subject>Organophosphates - toxicity</subject><subject>paraoxonase 1</subject><subject>paraoxonase 1, PON1 polymorphisms</subject><subject>Pesticides - toxicity</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>PON1 polymorphisms</subject><subject>Risk Factors</subject><subject>spina bifida</subject><subject>Spinal Dysraphism - epidemiology</subject><subject>Spinal Dysraphism - genetics</subject><subject>Young Adult</subject><subject>Yucatán</subject><issn>1542-0752</issn><issn>1542-0760</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kF1PFDEUhhuiAVy58QeYXhqTwX5s29lLWBQlgERAL5tO59StzEzHdlZ2w5-ny8BeenXOSZ_3Sfoi9I6SQ0oI-1TV0RwyopjaQftUTFlBlCSvtrtge-hNSn8yy5VSu2iPUcKpkHwfPVyZaMIqdCYBprgPzboNsV_41CZsuhovTN-EYd3DeA4LwNGnO-xCzG__fPcbB-dSHzebcQ7sADW-98MCp953Blfe-dpg3-HrsMxxkwZ8AStvw1v02pkmwcHznKDbL59v5l-L8--n3-ZH54XlUqnCghCi5IwJyqZyRq0hYKelMU64aVXzGeOklITNuHSCOScJlTJneGWhqirLJ-jD6O1j-LuENOjWJwtNYzoIy6SpEmU282yYoI8jamNIKYLT-WOtiWtNid6UrTdl66eyM_z-2busWqi36Eu7GaAjcO8bWP9HpY9Pfhy9SIsx49MAq23GxDstFVdC_7o81eX8WF2R2U99xh8B68uaDg</recordid><startdate>201011</startdate><enddate>201011</enddate><creator>Gonzalez-Herrera, Lizbeth</creator><creator>Martín Cerda-Flores, Ricardo</creator><creator>Luna-Rivero, Marianne</creator><creator>Canto-Herrera, Jorge</creator><creator>Pinto-Escalante, Doris</creator><creator>Perez-Herrera, Norma</creator><creator>Quintanilla-Vega, Betzabet</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><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>7TK</scope></search><sort><creationdate>201011</creationdate><title>Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico</title><author>Gonzalez-Herrera, Lizbeth ; Martín Cerda-Flores, Ricardo ; Luna-Rivero, Marianne ; Canto-Herrera, Jorge ; Pinto-Escalante, Doris ; Perez-Herrera, Norma ; Quintanilla-Vega, Betzabet</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3677-ce55583225124691ca0ec48aaf5f4bd392308602936f52ff60166e553bcebbbc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aryldialkylphosphatase - genetics</topic><topic>Aryldialkylphosphatase - metabolism</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Heterozygote</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Male</topic><topic>Mexico - epidemiology</topic><topic>Middle Aged</topic><topic>neural tube defects</topic><topic>Odds Ratio</topic><topic>Organophosphates - toxicity</topic><topic>paraoxonase 1</topic><topic>paraoxonase 1, PON1 polymorphisms</topic><topic>Pesticides - toxicity</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>PON1 polymorphisms</topic><topic>Risk Factors</topic><topic>spina bifida</topic><topic>Spinal Dysraphism - epidemiology</topic><topic>Spinal Dysraphism - genetics</topic><topic>Young Adult</topic><topic>Yucatán</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gonzalez-Herrera, Lizbeth</creatorcontrib><creatorcontrib>Martín Cerda-Flores, Ricardo</creatorcontrib><creatorcontrib>Luna-Rivero, Marianne</creatorcontrib><creatorcontrib>Canto-Herrera, Jorge</creatorcontrib><creatorcontrib>Pinto-Escalante, Doris</creatorcontrib><creatorcontrib>Perez-Herrera, Norma</creatorcontrib><creatorcontrib>Quintanilla-Vega, Betzabet</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><jtitle>Birth defects research. A Clinical and molecular teratology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gonzalez-Herrera, Lizbeth</au><au>Martín Cerda-Flores, Ricardo</au><au>Luna-Rivero, Marianne</au><au>Canto-Herrera, Jorge</au><au>Pinto-Escalante, Doris</au><au>Perez-Herrera, Norma</au><au>Quintanilla-Vega, Betzabet</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico</atitle><jtitle>Birth defects research. A Clinical and molecular teratology</jtitle><addtitle>Birth Defects Research Part A: Clinical and Molecular Teratology</addtitle><date>2010-11</date><risdate>2010</risdate><volume>88</volume><issue>11</issue><spage>987</spage><epage>994</epage><pages>987-994</pages><issn>1542-0752</issn><eissn>1542-0760</eissn><abstract>BACKGROUND
Spina bifida (SB) is a common congenital malformation in Southeast Mexico. Parents of children with SB reside in areas with frequent pesticide spraying or have agriculture activities, suggesting potential exposure to pesticides. Paraoxonase 1 (PON1) is the responsible enzyme for deactivation of organophosphates (OP) in the central nervous system. Polymorphisms of PON1 genes influence the catalytic activity and plasma protein level of the enzyme, therefore, genotypic characterization of PON1 gene represents a potential predictor for susceptibility to OP‐related effects.
METHODS
The frequency of PON1 haplotypes and polymorphisms (−108CT, L55M, and Q192R) were determined in this study. A case‐control study was performed to evaluate the risk for having offspring affected by SB in 152 cases and 160 control parents. Polymorphisms were determined by PCR amplification and restriction fragment length polymorphism and Real Time‐PCR. Odds ratios and confidence interval 95% were estimated.
RESULTS
Genotype frequencies for the three PON1 polymorphisms were distributed according to Hardy–Weinberg expectations (p > 0.05) and were significantly different between cases and controls (p < 0.05). The heterozygous CT genotype of −108CT polymorphism, the RR genotype of Q192R polymorphism, both LM and MM genotypes of L55M polymorphism, and the haplotypes 221 and 222 (for −108CT, L55M, and Q192R) were associated with the risk for having a child affected by SB (p < 0.02). The heterozygous −108CT genotype was associated only maternally, whereas the heterozygous L55M genotype was relevant only in the fathers. The RR homozygous genotype was relevant both in mothers and fathers, suggesting the importance of this substrate‐specific polymorphism.
CONCLUSION
Results suggest that PON1 polymorphisms are relevant risk factors for having offspring affected with SB in this population from Southeast Mexico. Birth Defects Research (Part A), 2010. © 2010 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>21031563</pmid><doi>10.1002/bdra.20727</doi><tpages>8</tpages></addata></record> |
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| subjects | Adolescent Adult Aryldialkylphosphatase - genetics Aryldialkylphosphatase - metabolism Case-Control Studies Child Female Gene Frequency Genotype Haplotypes Heterozygote Homozygote Humans Male Mexico - epidemiology Middle Aged neural tube defects Odds Ratio Organophosphates - toxicity paraoxonase 1 paraoxonase 1, PON1 polymorphisms Pesticides - toxicity Polymerase Chain Reaction Polymorphism, Genetic - genetics Polymorphism, Restriction Fragment Length PON1 polymorphisms Risk Factors spina bifida Spinal Dysraphism - epidemiology Spinal Dysraphism - genetics Young Adult Yucatán |
| title | Paraoxonase 1 polymorphisms and haplotypes and the risk for having offspring affected with spina bifida in Southeast Mexico |
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