Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2
Publication Date
August 04, 2016
Journal
PLOS ONE
Authors
Marijn C. Visschedijk, Rudi Alberts, Soren Mucha, Patrick Deelen, et al
Volume
11
Issue
8
Pages
e0159609
DOI
https://dx.plos.org/10.1371/journal.pone.0159609
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0159609
Web of Science
000381368900013
Scopus
84983271799
Mendeley
http://www.mendeley.com/research/pooled-resequencing-122-ulcerative-colitis-genes-large-dutch-cohort-suggests-populationspecific-asso
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Mendeley | Further Information

{"title"=>"Pooled resequencing of 122 ulcerative colitis genes in a large Dutch cohort suggests population-Specific associations of rare variants in MUC2", "type"=>"journal", "authors"=>[{"first_name"=>"Marijn C.", "last_name"=>"Visschedijk", "scopus_author_id"=>"14066824000"}, {"first_name"=>"Rudi", "last_name"=>"Alberts", "scopus_author_id"=>"9640207100"}, {"first_name"=>"Soren", "last_name"=>"Mucha", "scopus_author_id"=>"56525015600"}, {"first_name"=>"Patrick", "last_name"=>"Deelen", "scopus_author_id"=>"45261113000"}, {"first_name"=>"Dirk J.", "last_name"=>"De Jong", "scopus_author_id"=>"16405231700"}, {"first_name"=>"Marieke", "last_name"=>"Pierik", "scopus_author_id"=>"8571346700"}, {"first_name"=>"Lieke M.", "last_name"=>"Spekhorst", "scopus_author_id"=>"56429647300"}, {"first_name"=>"Floris", "last_name"=>"Imhann", "scopus_author_id"=>"56516960500"}, {"first_name"=>"Andrea E.", "last_name"=>"Van Der Meulen-de Jong", "scopus_author_id"=>"35764157200"}, {"first_name"=>"C.", "last_name"=>"Van Janneke Der Woude", "scopus_author_id"=>"57190816532"}, {"first_name"=>"Adriaan A.", "last_name"=>"Van Bodegraven", "scopus_author_id"=>"35399933600"}, {"first_name"=>"Bas", "last_name"=>"Oldenburg", "scopus_author_id"=>"55204246800"}, {"first_name"=>"Mark", "last_name"=>"Löwenberg", "scopus_author_id"=>"8692744000"}, {"first_name"=>"Gerard", "last_name"=>"Dijkstra", "scopus_author_id"=>"7003514792"}, {"first_name"=>"David", "last_name"=>"Ellinghaus", "scopus_author_id"=>"23666901100"}, {"first_name"=>"Stefan", "last_name"=>"Schreiber", "scopus_author_id"=>"55682654030"}, {"first_name"=>"Cisca", "last_name"=>"Wijmenga", "scopus_author_id"=>"57199743610"}, {"first_name"=>"Manuel A.", "last_name"=>"Rivas", "scopus_author_id"=>"25724653200"}, {"first_name"=>"Andre", "last_name"=>"Franke", "scopus_author_id"=>"55619304234"}, {"first_name"=>"Cleo C.", "last_name"=>"Van Diemen", "scopus_author_id"=>"8584548600"}, {"first_name"=>"Rinse K.", "last_name"=>"Weersma", "scopus_author_id"=>"8238994000"}], "year"=>2016, "source"=>"PLoS ONE", "identifiers"=>{"scopus"=>"2-s2.0-84983271799", "sgr"=>"84983271799", "issn"=>"19326203", "doi"=>"10.1371/journal.pone.0159609", "pmid"=>"27490946", "isbn"=>"1932-6203 (Electronic)\r1932-6203 (Linking)", "pui"=>"611725869"}, "id"=>"85f77b59-52e2-33f1-ae4e-33e391182b46", "abstract"=>"Genome-wide association studies have revealed several common genetic risk variants for ulcerative colitis (UC). However, little is known about the contribution of rare, large effect genetic variants to UC susceptibility. In this study, we performed a deep targeted re-sequencing of 122 genes in Dutch UC patients in order to investigate the contribution of rare variants to the genetic susceptibility to UC. The selection of genes consists of 111 established human UC susceptibility genes and 11 genes that lead to spontaneous colitis when knocked-out in mice. In addition, we sequenced the promoter regions of 45 genes where known variants exert cis-eQTL-effects. Targeted pooled re-sequencing was performed on DNA of 790 Dutch UC cases. The Genome of the Netherlands project provided sequence data of 500 healthy controls. After quality control and prioritization based on allele frequency and pathogenicity probability, follow-up genotyping of 171 rare variants was performed on 1021 Dutch UC cases and 1166 Dutch controls. Single-variant association and gene-based analyses identified an association of rare variants in the MUC2 gene with UC. The associated variants in the Dutch population could not be replicated in a German replication cohort (1026 UC cases, 3532 controls). In conclusion, this study has identified a putative role for MUC2 on UC susceptibility in the Dutch population and suggests a population-specific contribution of rare variants to UC.", "link"=>"http://www.mendeley.com/research/pooled-resequencing-122-ulcerative-colitis-genes-large-dutch-cohort-suggests-populationspecific-asso", "reader_count"=>16, "reader_count_by_academic_status"=>{"Unspecified"=>2, "Researcher"=>4, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>3, "Other"=>1, "Professor"=>2}, "reader_count_by_user_role"=>{"Unspecified"=>2, "Researcher"=>4, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>3, "Other"=>1, "Professor"=>2}, "reader_count_by_subject_area"=>{"Unspecified"=>4, "Engineering"=>1, "Biochemistry, Genetics and Molecular Biology"=>1, "Agricultural and Biological Sciences"=>5, "Medicine and Dentistry"=>4, "Arts and Humanities"=>1}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>1}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>5}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}, "Unspecified"=>{"Unspecified"=>4}, "Arts and Humanities"=>{"Arts and Humanities"=>1}}, "group_count"=>2}

Scopus | Further Information

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