Genetics of VEGF Serum Variation in Human Isolated Populations of Cilento: Importance of VEGF Polymorphisms
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{"title"=>"Genetics of VEGF serum variation in human isolated populations of Cilento: Importance of VEGF polymorphisms", "type"=>"journal", "authors"=>[{"first_name"=>"Daniela", "last_name"=>"Ruggiero", "scopus_author_id"=>"36515433800"}, {"first_name"=>"Cyril", "last_name"=>"Dalmasso", "scopus_author_id"=>"6603358047"}, {"first_name"=>"Teresa", "last_name"=>"Nutile", "scopus_author_id"=>"57195616934"}, {"first_name"=>"Rossella", "last_name"=>"Sorice", "scopus_author_id"=>"23981326700"}, {"first_name"=>"Laura", "last_name"=>"Dionisi", "scopus_author_id"=>"39761434100"}, {"first_name"=>"Mario", "last_name"=>"Aversano", "scopus_author_id"=>"55161621800"}, {"first_name"=>"Philippe", "last_name"=>"Bröet", "scopus_author_id"=>"55909494300"}, {"first_name"=>"Anne Louise", "last_name"=>"Leutenegger", "scopus_author_id"=>"7005465570"}, {"first_name"=>"Catherine", "last_name"=>"Bourgain", "scopus_author_id"=>"55962505400"}, {"first_name"=>"Marina", "last_name"=>"Ciullo", "scopus_author_id"=>"57191532367"}], "year"=>2011, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "pui"=>"361298756", "doi"=>"10.1371/journal.pone.0016982", "sgr"=>"79951790803", "scopus"=>"2-s2.0-79951790803", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "pmid"=>"21347390"}, "id"=>"a0b0cfd7-582c-353a-8d88-b681e8717ecc", "abstract"=>"Vascular Endothelial Growth Factor (VEGF) is the main player in angiogenesis. Because of its crucial role in this process, the study of the genetic factors controlling VEGF variability may be of particular interest for many angiogenesis-associated diseases. Although some polymorphisms in the VEGF gene have been associated with a susceptibility to several disorders, no genome-wide search on VEGF serum levels has been reported so far. We carried out a genome-wide linkage analysis in three isolated populations and we detected a strong linkage between VEGF serum levels and the 6p21.1 VEGF region in all samples. A new locus on chromosome 3p26.3 significantly linked to VEGF serum levels was also detected in a combined population sample. A sequencing of the gene followed by an association study identified three common single nucleotide polymorphisms (SNPs) influencing VEGF serum levels in one population (Campora), two already reported in the literature (rs3025039, rs25648) and one new signal (rs3025020). A fourth SNP (rs41282644) was found to affect VEGF serum levels in another population (Cardile). All the identified SNPs contribute to the related population linkages (35% of the linkage explained in Campora and 15% in Cardile). Interestingly, none of the SNPs influencing VEGF serum levels in one population was found to be associated in the two other populations. These results allow us to exclude the hypothesis that the common variants located in the exons, intron-exon junctions, promoter and regulative regions of the VEGF gene may have a causal effect on the VEGF variation. The data support the alternative hypothesis of a multiple rare variant model, possibly consisting in distinct variants in different populations, influencing VEGF serum levels.", "link"=>"http://www.mendeley.com/research/genetics-vegf-serum-variation-human-isolated-populations-cilento-importance-vegf-polymorphisms", "reader_count"=>21, "reader_count_by_academic_status"=>{"Unspecified"=>2, "Librarian"=>1, "Researcher"=>6, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Student > Master"=>4, "Student > Bachelor"=>1, "Professor"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>2, "Librarian"=>1, "Researcher"=>6, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>3, "Student > Postgraduate"=>2, "Student > Master"=>4, "Student > Bachelor"=>1, "Professor"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>3, "Agricultural and Biological Sciences"=>10, "Medicine and Dentistry"=>4, "Computer Science"=>1, "Earth and Planetary Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Earth and Planetary Sciences"=>{"Earth and Planetary Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>10}, "Computer Science"=>{"Computer Science"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>3}, "Unspecified"=>{"Unspecified"=>2}}, "reader_count_by_country"=>{"France"=>1}, "group_count"=>0}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/399791", "https://ndownloader.figshare.com/files/399830", "https://ndownloader.figshare.com/files/399859", "https://ndownloader.figshare.com/files/399893"], "description"=>"<div><p>Vascular Endothelial Growth Factor (VEGF) is the main player in angiogenesis. Because of its crucial role in this process, the study of the genetic factors controlling VEGF variability may be of particular interest for many angiogenesis-associated diseases. Although some polymorphisms in the <em>VEGF</em> gene have been associated with a susceptibility to several disorders, no genome-wide search on VEGF serum levels has been reported so far. We carried out a genome-wide linkage analysis in three isolated populations and we detected a strong linkage between VEGF serum levels and the 6p21.1 <em>VEGF</em> region in all samples. A new locus on chromosome 3p26.3 significantly linked to VEGF serum levels was also detected in a combined population sample. A sequencing of the gene followed by an association study identified three common single nucleotide polymorphisms (SNPs) influencing VEGF serum levels in one population (Campora), two already reported in the literature (rs3025039, rs25648) and one new signal (rs3025020). A fourth SNP (rs41282644) was found to affect VEGF serum levels in another population (Cardile). All the identified SNPs contribute to the related population linkages (35% of the linkage explained in Campora and 15% in Cardile). Interestingly, none of the SNPs influencing VEGF serum levels in one population was found to be associated in the two other populations. These results allow us to exclude the hypothesis that the common variants located in the exons, intron-exon junctions, promoter and regulative regions of the <em>VEGF</em> gene may have a causal effect on the VEGF variation. The data support the alternative hypothesis of a multiple rare variant model, possibly consisting in distinct variants in different populations, influencing VEGF serum levels.</p> </div>", "links"=>[], "tags"=>["genetics", "vegf", "serum", "populations", "polymorphisms"], "article_id"=>138979, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.s001", "https://dx.doi.org/10.1371/journal.pone.0016982.s002", "https://dx.doi.org/10.1371/journal.pone.0016982.s003", "https://dx.doi.org/10.1371/journal.pone.0016982.s004"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Genetics_of_VEGF_Serum_Variation_in_Human_Isolated_Populations_of_Cilento_Importance_of_VEGF_Polymorphisms/138979", "title"=>"Genetics of VEGF Serum Variation in Human Isolated Populations of Cilento: Importance of VEGF Polymorphisms", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2011-02-09 02:29:39"}
  • {"files"=>["https://ndownloader.figshare.com/files/799572"], "description"=>"<p>The increase of VEGF levels with ageing is reported in each population sample with the related p-values. In Campora, the VEGF levels are higher than in Gioi and Cardile. The median values and 95% IC of the VEGF levels for each age class are reported.</p>", "links"=>[], "tags"=>["vegf", "serum", "levels", "populations", "gioi"], "article_id"=>469925, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.g001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Correlation_between_VEGF_serum_levels_and_age_in_the_populations_of_Campora_Gioi_and_Cardile_/469925", "title"=>"Correlation between VEGF serum levels and age in the populations of Campora, Gioi and Cardile.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2011-02-09 02:45:25"}
  • {"files"=>["https://ndownloader.figshare.com/files/799708"], "description"=>"<p>The percentages reported correspond to the mean LOD score over all sub-pedigree sets analyzed conditional on SNP genotypes divided by the mean LOD score over all sub-pedigree sets analyzed unconditionally. A decrease of the linkage peak is observed after adjusting for the genotypes at each associated SNP. A greater effect is observed when the three SNPs detected in Campora are considered simultaneously.</p>", "links"=>[], "tags"=>["linkage", "explained", "snp", "campora", "cardile"], "article_id"=>470066, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.g002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Graphical_representation_of_the_proportion_of_linkage_explained_by_the_SNP_in_Campora_A_and_Cardile_B_/470066", "title"=>"Graphical representation of the proportion of linkage explained by the SNP in Campora (A) and Cardile (B).", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2011-02-09 00:01:06"}
  • {"files"=>["https://ndownloader.figshare.com/files/799790"], "description"=>"<p>Characteristics of the study samples.</p>", "links"=>[], "tags"=>["genetics and genomics"], "article_id"=>470158, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.t001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Characteristics_of_the_study_samples_/470158", "title"=>"Characteristics of the study samples.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 00:02:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/799843"], "description"=>"<p>For each sample the mean LOD scores over all sub-pedigree sets and the corresponding q-value are reported.</p><p>*value of the maximum and minimum LOD scores observed over all sub-pedigree sets.</p>", "links"=>[], "tags"=>["linkage", "vegf", "serum", "levels", "populations"], "article_id"=>470197, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.t002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genome_wide_linkage_results_for_VEGF_serum_levels_in_the_three_populations_and_combined_sample_/470197", "title"=>"Genome-wide linkage results for VEGF serum levels in the three populations and combined sample.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 00:03:17"}
  • {"files"=>["https://ndownloader.figshare.com/files/799875"], "description"=>"<p>The 26 polymorphisms having a MAF>5% in at least one of the samples are reported in bold. New SNPs, not reported in the NCBI, are denoted “new”. Two SNPs (*), already available from previous studies and located outside the sequencing region, were included in the study.</p>", "links"=>[], "tags"=>["sequencing", "detection"], "article_id"=>470237, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.t003"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Polymorphisms_identified_in_the_VEGF_gene_through_sequencing_analysis_of_the_three_detection_samples_/470237", "title"=>"Polymorphisms identified in the <i>VEGF</i> gene through sequencing analysis of the three detection samples.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 00:03:57"}
  • {"files"=>["https://ndownloader.figshare.com/files/799917"], "description"=>"<p>The SNPs significantly associated in the <i>detection sample</i> of each population are reported. The results for the SNP (*) repeatedly associated with VEGF levels and/or related diseases in the literature are also presented.</p><p>p-value threshold corrected for multiple testing = 0.003.</p>", "links"=>[], "tags"=>["snps", "levels", "detection"], "article_id"=>470278, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.t004"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_results_between_the_SNPs_in_the_VEGF_gene_and_the_protein_levels_in_the_detection_samples_/470278", "title"=>"Association results between the SNPs in the <i>VEGF</i> gene and the protein levels in the detection samples.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 00:04:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/799952"], "description"=>"<p>Only the SNPs significantly associated in the <i>population sample</i> of each village, three SNPs in Campora and one in Cardile, are reported.</p><p>p-value threshold corrected for multiple testing = 0.01.</p>", "links"=>[], "tags"=>["snps", "levels"], "article_id"=>470316, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.t005"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_results_between_the_SNPs_in_the_VEGF_gene_and_the_protein_levels_in_the_population_samples_/470316", "title"=>"Association results between the SNPs in the <i>VEGF</i> gene and the protein levels in the population samples.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 00:05:16"}
  • {"files"=>["https://ndownloader.figshare.com/files/799988"], "description"=>"<p>Associations between the rs25648, rs3025020 and rs3025039 haplotypes and the VEGF serum levels (A) and associations between the rs25648, rs3025020, rs3025039 and rs41282644 haplotypes and the VEGF serum levels (B) in the population samples of Campora, Gioi and Cardile are presented. Only the haplotypes with a frequency>1% were tested.</p>", "links"=>[], "tags"=>["genetics and genomics"], "article_id"=>470351, "categories"=>["Genetics"], "users"=>["Daniela Ruggiero", "Cyril Dalmasso", "Teresa Nutile", "Rossella Sorice", "Laura Dionisi", "Mario Aversano", "Philippe Broët", "Anne-Louise Leutenegger", "Catherine Bourgain", "Marina Ciullo"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0016982.t006"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Haplotype_association_results_/470351", "title"=>"Haplotype association results.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2011-02-09 00:05:51"}

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