Common Variants within MECP2 Confer Risk of Systemic Lupus Erythematosus
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{"title"=>"Common variants within MECP2 confer risk of systemic lupus erythematosus", "type"=>"journal", "authors"=>[{"first_name"=>"Amr H.", "last_name"=>"Sawalha", "scopus_author_id"=>"6603053810"}, {"first_name"=>"Ryan", "last_name"=>"Webb", "scopus_author_id"=>"8651219200"}, {"first_name"=>"Shizhong", "last_name"=>"Han", "scopus_author_id"=>"23480012700"}, {"first_name"=>"Jennifer A.", "last_name"=>"Kelly", "scopus_author_id"=>"8536891600"}, {"first_name"=>"Kenneth M.", "last_name"=>"Kaufman", "scopus_author_id"=>"7102773191"}, {"first_name"=>"Robert P.", "last_name"=>"Kimberly", "scopus_author_id"=>"7005738540"}, {"first_name"=>"Marta E.", "last_name"=>"Alarcón-Riquelme", "scopus_author_id"=>"7004201121"}, {"first_name"=>"Judith A.", "last_name"=>"James", "scopus_author_id"=>"35429413300"}, {"first_name"=>"Timothy J.", "last_name"=>"Vyse", "scopus_author_id"=>"7003955999"}, {"first_name"=>"Gary S.", "last_name"=>"Gilkeson", "scopus_author_id"=>"7005802718"}, {"first_name"=>"Chan Bum", "last_name"=>"Choi", "scopus_author_id"=>"56735124600"}, {"first_name"=>"R. Hal", "last_name"=>"Scofield", "scopus_author_id"=>"7005409257"}, {"first_name"=>"Sang Cheol", "last_name"=>"Bae", "scopus_author_id"=>"55489131800"}, {"first_name"=>"Swapan K.", "last_name"=>"Nath", "scopus_author_id"=>"7102759611"}, {"first_name"=>"John B.", "last_name"=>"Harley", "scopus_author_id"=>"7201902945"}], "year"=>2008, "source"=>"PLoS ONE", "identifiers"=>{"scopus"=>"2-s2.0-45849119873", "doi"=>"10.1371/journal.pone.0001727", "sgr"=>"45849119873", "isbn"=>"1932-6203 (Electronic)", "pmid"=>"18320046", "issn"=>"19326203", "pui"=>"351903230"}, "id"=>"fb6eb3c0-3f4f-3219-9b39-b37841051ec5", "abstract"=>"Systemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene association with SLE. Methyl-CpG-binding protein 2 (MECP2) is located on chromosome Xq28 and encodes for a protein that plays a critical role in epigenetic transcriptional regulation of methylation-sensitive genes. Utilizing a candidate gene association approach, we genotyped 21 SNPs within and around MECP2 in SLE patients and controls. We identify and replicate association between SLE and the genomic element containing MECP2 in two independent SLE cohorts from two ethnically divergent populations. These findings are potentially related to the overexpression of methylation-sensitive genes in SLE.", "link"=>"http://www.mendeley.com/research/common-variants-within-mecp2-confer-risk-systemic-lupus-erythematosus-3", "reader_count"=>25, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>3, "Researcher"=>6, "Student > Ph. D. Student"=>5, "Student > Postgraduate"=>1, "Student > Master"=>2, "Other"=>2, "Student > Bachelor"=>3, "Lecturer > Senior Lecturer"=>1, "Professor"=>2}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>3, "Researcher"=>6, "Student > Ph. D. Student"=>5, "Student > Postgraduate"=>1, "Student > Master"=>2, "Other"=>2, "Student > Bachelor"=>3, "Lecturer > Senior Lecturer"=>1, "Professor"=>2}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>4, "Agricultural and Biological Sciences"=>10, "Medicine and Dentistry"=>10}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>10}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>10}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>4}, "Unspecified"=>{"Unspecified"=>1}}, "reader_count_by_country"=>{"United States"=>3, "United Kingdom"=>1, "Portugal"=>1}, "group_count"=>1}

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Figshare

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  • {"files"=>["https://ndownloader.figshare.com/files/936334"], "description"=>"<p>SNPs genotyped in the <i>MECP2</i> region in SLE patients and controls</p>", "links"=>[], "tags"=>["genotyped", "sle", "patients"], "article_id"=>606764, "categories"=>["Genetics"], "users"=>["Amr H. Sawalha", "Ryan Webb", "Shizhong Han", "Jennifer A. Kelly", "Kenneth M. Kaufman", "Robert P. Kimberly", "Marta E. Alarcón-Riquelme", "Judith A. James", "Timothy J. Vyse", "Gary S. Gilkeson", "Chan-Bum Choi", "R. Hal Scofield", "Sang-Cheol Bae", "Swapan K. Nath", "John B. Harley"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0001727.t001", "stats"=>{"downloads"=>1, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_SNPs_genotyped_in_the_MECP2_region_in_SLE_patients_and_controls_/606764", "title"=>"SNPs genotyped in the <i>MECP2</i> region in SLE patients and controls", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 10:56:20"}
  • {"files"=>["https://ndownloader.figshare.com/files/935862"], "description"=>"<p>The allelic association p values of the SNPs analyzed are shown in the Korean cohort included in this study.</p>", "links"=>[], "tags"=>["linkage", "disequilibrium", "chromosome", "xq28"], "article_id"=>606280, "categories"=>["Genetics"], "users"=>["Amr H. Sawalha", "Ryan Webb", "Shizhong Han", "Jennifer A. Kelly", "Kenneth M. Kaufman", "Robert P. Kimberly", "Marta E. Alarcón-Riquelme", "Judith A. James", "Timothy J. Vyse", "Gary S. Gilkeson", "Chan-Bum Choi", "R. Hal Scofield", "Sang-Cheol Bae", "Swapan K. Nath", "John B. Harley"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0001727.g001", "stats"=>{"downloads"=>0, "page_views"=>14, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Allelic_association_results_and_linkage_disequilibrium_LD_plot_of_the_chromosome_Xq28_region_around_the_MECP2_gene_/606280", "title"=>"Allelic association results and linkage disequilibrium (LD) plot of the chromosome Xq28 region around the <i>MECP2</i> gene.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-21 10:53:24"}
  • {"files"=>["https://ndownloader.figshare.com/files/936295"], "description"=>"<p>OR, odds ratio; CI, confidence interval; HWE, Hardy-Weinberg equilibrium.</p>*<p>A total of 628 independent female SLE patients and 736 healthy unrelated female controls were genotyped</p>", "links"=>[], "tags"=>["frequencies", "snps", "genotyped", "korean", "sle", "patients", "allele"], "article_id"=>606724, "categories"=>["Genetics"], "users"=>["Amr H. Sawalha", "Ryan Webb", "Shizhong Han", "Jennifer A. Kelly", "Kenneth M. Kaufman", "Robert P. Kimberly", "Marta E. Alarcón-Riquelme", "Judith A. James", "Timothy J. Vyse", "Gary S. Gilkeson", "Chan-Bum Choi", "R. Hal Scofield", "Sang-Cheol Bae", "Swapan K. Nath", "John B. Harley"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0001727.t002", "stats"=>{"downloads"=>0, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Allele_frequencies_of_SNPs_in_the_MECP2_gene_region_genotyped_in_Korean_SLE_patients_and_that_have_a_minor_allele_frequency_of_0_05_/606724", "title"=>"Allele frequencies of SNPs in the <i>MECP2</i> gene region genotyped in Korean SLE patients and that have a minor allele frequency of >0.05", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 10:56:02"}
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  • {"files"=>["https://ndownloader.figshare.com/files/936055"], "description"=>"<p>OR, odds ratio; CI, confidence interval</p>", "links"=>[], "tags"=>["alleles", "sle-associated", "snps", "korean", "european-derived"], "article_id"=>606487, "categories"=>["Genetics"], "users"=>["Amr H. Sawalha", "Ryan Webb", "Shizhong Han", "Jennifer A. Kelly", "Kenneth M. Kaufman", "Robert P. Kimberly", "Marta E. Alarcón-Riquelme", "Judith A. James", "Timothy J. Vyse", "Gary S. Gilkeson", "Chan-Bum Choi", "R. Hal Scofield", "Sang-Cheol Bae", "Swapan K. Nath", "John B. Harley"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0001727.t007", "stats"=>{"downloads"=>0, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Meta_analysis_for_risk_alleles_in_SLE_associated_MECP2_SNPs_in_Korean_and_European_derived_cohorts_/606487", "title"=>"Meta-analysis for risk alleles in SLE-associated <i>MECP2</i> SNPs in Korean and European-derived cohorts", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 10:54:37"}
  • {"files"=>["https://ndownloader.figshare.com/files/936202"], "description"=>"<p>OR, odds ratio; CI, confidence interval.</p>*<p>A total of 628 independent female SLE patients and 736 healthy unrelated female controls were genotyped</p>", "links"=>[], "tags"=>["homozygous", "allele", "genotypes", "korean", "sle", "patients", "compared"], "article_id"=>606628, "categories"=>["Genetics"], "users"=>["Amr H. Sawalha", "Ryan Webb", "Shizhong Han", "Jennifer A. Kelly", "Kenneth M. Kaufman", "Robert P. Kimberly", "Marta E. Alarcón-Riquelme", "Judith A. James", "Timothy J. Vyse", "Gary S. Gilkeson", "Chan-Bum Choi", "R. Hal Scofield", "Sang-Cheol Bae", "Swapan K. Nath", "John B. Harley"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0001727.t004", "stats"=>{"downloads"=>1, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Frequencies_of_homozygous_risk_allele_genotypes_in_Korean_SLE_patients_compared_to_controls_/606628", "title"=>"Frequencies of homozygous risk allele genotypes in Korean SLE patients compared to controls.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 10:55:28"}
  • {"files"=>["https://ndownloader.figshare.com/files/936248"], "description"=>"<p>OR, odds ratio; CI, confidence interval.</p>", "links"=>[], "tags"=>["haplotype", "frequencies", "korean", "sle", "patients"], "article_id"=>606674, "categories"=>["Genetics"], "users"=>["Amr H. Sawalha", "Ryan Webb", "Shizhong Han", "Jennifer A. Kelly", "Kenneth M. Kaufman", "Robert P. Kimberly", "Marta E. Alarcón-Riquelme", "Judith A. James", "Timothy J. Vyse", "Gary S. Gilkeson", "Chan-Bum Choi", "R. Hal Scofield", "Sang-Cheol Bae", "Swapan K. Nath", "John B. Harley"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0001727.t003", "stats"=>{"downloads"=>0, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_MECP2_haplotype_frequencies_in_the_Korean_SLE_patients_and_controls_/606674", "title"=>"<i>MECP2</i> haplotype frequencies in the Korean SLE patients and controls.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 10:55:45"}
  • {"files"=>["https://ndownloader.figshare.com/files/936102"], "description"=>"<p>OR, odds ratio; CI, confidence interval.</p>", "links"=>[], "tags"=>["haplotype", "frequencies", "european-derived", "sle", "patients"], "article_id"=>606527, "categories"=>["Genetics"], "users"=>["Amr H. Sawalha", "Ryan Webb", "Shizhong Han", "Jennifer A. Kelly", "Kenneth M. Kaufman", "Robert P. Kimberly", "Marta E. Alarcón-Riquelme", "Judith A. James", "Timothy J. Vyse", "Gary S. Gilkeson", "Chan-Bum Choi", "R. Hal Scofield", "Sang-Cheol Bae", "Swapan K. Nath", "John B. Harley"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0001727.t006", "stats"=>{"downloads"=>1, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_MECP2_haplotype_frequencies_in_the_European_derived_female_SLE_patients_and_controls_/606527", "title"=>"<i>MECP2</i> haplotype frequencies in the European-derived female SLE patients and controls.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 10:54:54"}

PMC Usage Stats | Further Information

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Relative Metric

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