FOXC2 and FLT4 Gene Variants in Lymphatic Filariasis.
Identifieur interne : 000F30 ( PubMed/Checkpoint ); précédent : 000F29; suivant : 000F31FOXC2 and FLT4 Gene Variants in Lymphatic Filariasis.
Auteurs : Yasmeen Sheik [Inde] ; Sameera Fatima Qureshi [Inde] ; Basheeruddin Mohhammed [Inde] ; Pratibha Nallari [Inde]Source :
- Lymphatic research and biology [ 1557-8585 ] ; 2015.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Allèles, Facteurs de transcription Forkhead (génétique), Femelle, Filariose lymphatique (diagnostic), Filariose lymphatique (génétique), Fréquence d'allèle, Génotype, Humains, Mâle, Odds ratio, Polymorphisme de nucléotide simple, Prédisposition génétique à une maladie, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Variation génétique, Études de cohortes.
- MESH :
- diagnostic : Filariose lymphatique.
- génétique : Facteurs de transcription Forkhead, Filariose lymphatique, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Adulte, Adulte d'âge moyen, Allèles, Femelle, Fréquence d'allèle, Génotype, Humains, Mâle, Odds ratio, Polymorphisme de nucléotide simple, Prédisposition génétique à une maladie, Variation génétique, Études de cohortes.
English descriptors
- KwdEn :
- Adult, Alleles, Cohort Studies, Elephantiasis, Filarial (diagnosis), Elephantiasis, Filarial (genetics), Female, Forkhead Transcription Factors (genetics), Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Male, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide, Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : Forkhead Transcription Factors, Vascular Endothelial Growth Factor Receptor-3.
- diagnosis : Elephantiasis, Filarial.
- genetics : Elephantiasis, Filarial.
- Adult, Alleles, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Male, Middle Aged, Odds Ratio, Polymorphism, Single Nucleotide.
Abstract
Lymphatic filariasis is the leading cause of secondary lymphedema wherein lymph transport is impaired due to lymphatic damage. FLT4 signaling and transcription factors such as FOXC2 play an important role in this type of lymphangiogenesis process induced by filarial parasites. The present study aims to assess the association of FLT4 and FOXC2 genes in lymphatic development/remodeling in lymphatic filariasis. A total of 118 lymphatic filariasis patients and 100 non-endemic and 50 endemic healthy subjects were enrolled for the present study. Allele-specific PCR and PCR-RFLP were adopted for the genotyping, and screening of FLT4 and FOXC2 genes was carried out by PCR-SSCP, followed by in-silico and statistical analysis. A novel variation (G357A SNP) was identified on FOXC2 gene screening that may have an effect on codon usage frequency during translational process. In FLT4, A3123G mutation was found in 3.39% of the case subjects but the functional role of this mutation, along with subject's clinical presentations and patient's age, emphasize its pathogenic role in lymphedema development. Two of the subjects exhibit compound heterozygosity (A3123G FLT4 mutation and G357A SNP of FOXC2 gene). As these two genes share a common pathway, we hypothesise a synergistic interaction of these two SNPs in inhibiting the downstream signaling resulting in lymphedema progression.
DOI: 10.1089/lrb.2014.0025
PubMed: 26091406
Affiliations:
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uniqKey="Sheik Y" first="Yasmeen" last="Sheik">Yasmeen Sheik</name><affiliation wicri:level="1"><nlm:affiliation>1 Department of Genetics, Osmania University , Hyderabad, Telangana, India .</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>1 Department of Genetics, Osmania University , Hyderabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Qureshi, Sameera Fatima" sort="Qureshi, Sameera Fatima" uniqKey="Qureshi S" first="Sameera Fatima" last="Qureshi">Sameera Fatima Qureshi</name><affiliation wicri:level="1"><nlm:affiliation>1 Department of Genetics, Osmania University , Hyderabad, Telangana, India .</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>1 Department of Genetics, Osmania University , Hyderabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Mohhammed, Basheeruddin" sort="Mohhammed, Basheeruddin" uniqKey="Mohhammed B" first="Basheeruddin" last="Mohhammed">Basheeruddin Mohhammed</name><affiliation wicri:level="1"><nlm:affiliation>2 NFCP (National Filariasis Control program Centre) , Siddipet, Medak, Telangana, India .</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>2 NFCP (National Filariasis Control program Centre) , Siddipet, Medak, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author><author><name sortKey="Nallari, Pratibha" sort="Nallari, Pratibha" uniqKey="Nallari P" first="Pratibha" last="Nallari">Pratibha Nallari</name><affiliation wicri:level="1"><nlm:affiliation>1 Department of Genetics, Osmania University , Hyderabad, Telangana, India .</nlm:affiliation><country xml:lang="fr">Inde</country><wicri:regionArea>1 Department of Genetics, Osmania University , Hyderabad, Telangana</wicri:regionArea><wicri:noRegion>Telangana</wicri:noRegion></affiliation></author></analytic><series><title 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(génétique)</term><term>Femelle</term><term>Filariose lymphatique (diagnostic)</term><term>Filariose lymphatique (génétique)</term><term>Fréquence d'allèle</term><term>Génotype</term><term>Humains</term><term>Mâle</term><term>Odds ratio</term><term>Polymorphisme de nucléotide simple</term><term>Prédisposition génétique à une maladie</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Variation génétique</term><term>Études de cohortes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Elephantiasis, Filarial</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Filariose lymphatique</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Elephantiasis, Filarial</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription Forkhead</term><term>Filariose lymphatique</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Alleles</term><term>Cohort Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genetic Variation</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Odds Ratio</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Adulte d'âge moyen</term><term>Allèles</term><term>Femelle</term><term>Fréquence d'allèle</term><term>Génotype</term><term>Humains</term><term>Mâle</term><term>Odds ratio</term><term>Polymorphisme de nucléotide simple</term><term>Prédisposition génétique à une maladie</term><term>Variation génétique</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lymphatic filariasis is the leading cause of secondary lymphedema wherein lymph transport is impaired due to lymphatic damage. FLT4 signaling and transcription factors such as FOXC2 play an important role in this type of lymphangiogenesis process induced by filarial parasites. The present study aims to assess the association of FLT4 and FOXC2 genes in lymphatic development/remodeling in lymphatic filariasis. A total of 118 lymphatic filariasis patients and 100 non-endemic and 50 endemic healthy subjects were enrolled for the present study. Allele-specific PCR and PCR-RFLP were adopted for the genotyping, and screening of FLT4 and FOXC2 genes was carried out by PCR-SSCP, followed by in-silico and statistical analysis. A novel variation (G357A SNP) was identified on FOXC2 gene screening that may have an effect on codon usage frequency during translational process. In FLT4, A3123G mutation was found in 3.39% of the case subjects but the functional role of this mutation, along with subject's clinical presentations and patient's age, emphasize its pathogenic role in lymphedema development. Two of the subjects exhibit compound heterozygosity (A3123G FLT4 mutation and G357A SNP of FOXC2 gene). As these two genes share a common pathway, we hypothesise a synergistic interaction of these two SNPs in inhibiting the downstream signaling resulting in lymphedema progression.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26091406</PMID><DateCreated><Year>2015</Year><Month>06</Month><Day>20</Day></DateCreated><DateCompleted><Year>2016</Year><Month>03</Month><Day>24</Day></DateCompleted><DateRevised><Year>2015</Year><Month>06</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1557-8585</ISSN><JournalIssue CitedMedium="Internet"><Volume>13</Volume><Issue>2</Issue><PubDate><Year>2015</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Lymphatic research and biology</Title><ISOAbbreviation>Lymphat Res Biol</ISOAbbreviation></Journal><ArticleTitle>FOXC2 and FLT4 Gene Variants in Lymphatic Filariasis.</ArticleTitle><Pagination><MedlinePgn>112-9</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1089/lrb.2014.0025</ELocationID><Abstract><AbstractText>Lymphatic filariasis is the leading cause of secondary lymphedema wherein lymph transport is impaired due to lymphatic damage. FLT4 signaling and transcription factors such as FOXC2 play an important role in this type of lymphangiogenesis process induced by filarial parasites. The present study aims to assess the association of FLT4 and FOXC2 genes in lymphatic development/remodeling in lymphatic filariasis. A total of 118 lymphatic filariasis patients and 100 non-endemic and 50 endemic healthy subjects were enrolled for the present study. Allele-specific PCR and PCR-RFLP were adopted for the genotyping, and screening of FLT4 and FOXC2 genes was carried out by PCR-SSCP, followed by in-silico and statistical analysis. A novel variation (G357A SNP) was identified on FOXC2 gene screening that may have an effect on codon usage frequency during translational process. In FLT4, A3123G mutation was found in 3.39% of the case subjects but the functional role of this mutation, along with subject's clinical presentations and patient's age, emphasize its pathogenic role in lymphedema development. Two of the subjects exhibit compound heterozygosity (A3123G FLT4 mutation and G357A SNP of FOXC2 gene). As these two genes share a common pathway, we hypothesise a synergistic interaction of these two SNPs in inhibiting the downstream signaling resulting in lymphedema progression.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sheik</LastName><ForeName>Yasmeen</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>1 Department of Genetics, Osmania University , Hyderabad, Telangana, India .</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Qureshi</LastName><ForeName>Sameera Fatima</ForeName><Initials>SF</Initials><AffiliationInfo><Affiliation>1 Department of Genetics, Osmania University , Hyderabad, Telangana, India .</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mohhammed</LastName><ForeName>Basheeruddin</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>2 NFCP (National Filariasis Control program Centre) , Siddipet, Medak, Telangana, India .</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nallari</LastName><ForeName>Pratibha</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>1 Department of Genetics, Osmania University , Hyderabad, Telangana, India .</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>06</Month><Day>02</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Lymphat Res Biol</MedlineTA><NlmUniqueID>101163587</NlmUniqueID><ISSNLinking>1539-6851</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="D040321">Vascular Endothelial Growth Factor Receptor-3</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000483" MajorTopicYN="N">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015331" MajorTopicYN="N">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004605" MajorTopicYN="N">Elephantiasis, Filarial</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005787" MajorTopicYN="N">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014644" MajorTopicYN="Y">Genetic Variation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016017" MajorTopicYN="N">Odds Ratio</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="N">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>6</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>6</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>3</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26091406</ArticleId><ArticleId IdType="doi">10.1089/lrb.2014.0025</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Inde</li></country></list><tree><country name="Inde"><noRegion><name sortKey="Sheik, Yasmeen" sort="Sheik, Yasmeen" uniqKey="Sheik Y" first="Yasmeen" last="Sheik">Yasmeen Sheik</name></noRegion><name sortKey="Mohhammed, Basheeruddin" sort="Mohhammed, Basheeruddin" uniqKey="Mohhammed B" first="Basheeruddin" last="Mohhammed">Basheeruddin Mohhammed</name><name sortKey="Nallari, Pratibha" sort="Nallari, Pratibha" uniqKey="Nallari P" first="Pratibha" last="Nallari">Pratibha Nallari</name><name sortKey="Qureshi, Sameera Fatima" sort="Qureshi, Sameera Fatima" uniqKey="Qureshi S" first="Sameera Fatima" last="Qureshi">Sameera Fatima Qureshi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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