A Genome-Wide Association Study of Female Sexual Dysfunction
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{"title"=>"A genome-wide association study of female sexual dysfunction", "type"=>"journal", "authors"=>[{"first_name"=>"Andrea", "last_name"=>"Burri", "scopus_author_id"=>"25926359500"}, {"first_name"=>"Pirro", "last_name"=>"Hysi", "scopus_author_id"=>"18133899000"}, {"first_name"=>"Alex", "last_name"=>"Clop", "scopus_author_id"=>"6603336145"}, {"first_name"=>"Qazi", "last_name"=>"Rahman", "scopus_author_id"=>"7006117575"}, {"first_name"=>"Tim D.", "last_name"=>"Spector", "scopus_author_id"=>"35351391300"}], "year"=>2012, "source"=>"PLoS ONE", "identifiers"=>{"pui"=>"364606642", "issn"=>"19326203", "isbn"=>"1932-6203", "doi"=>"10.1371/journal.pone.0035041", "scopus"=>"2-s2.0-84859620148", "pmid"=>"22509378", "sgr"=>"84859620148"}, "id"=>"af5b141e-69f0-3ae4-8c84-6efc53b2b50a", "abstract"=>"BACKGROUND: Female sexual dysfunction (FSD) is an important but controversial problem with serious negative impact on women's quality of life. Data from twin studies have shown a genetic contribution to the development and maintenance of FSD.\\n\\nMETHODOLOGY/PRINCIPAL FINDINGS: We performed a genome-wide association study (GWAS) on 2.5 million single-nucleotide polymorphisms (SNPs) in 1,104 female twins (25-81 years of age) in a population-based register and phenotypic data on lifelong sexual functioning. Although none reached conventional genome-wide level of significance (10 × -8), we found strongly suggestive associations with the phenotypic dimension of arousal (rs13202860, P = 1.2 × 10(-7); rs1876525, P = 1.2 × 10(-7); and rs13209281 P = 8.3 × 10(-7)) on chromosome 6, around 500 kb upstream of the locus HTR1E (5-hydroxytryptamine receptor 1E) locus, related to the serotonin brain pathways. We could not replicate previously reported candidate SNPs associated with FSD in the DRD4, 5HT2A and IL-1B loci.\\n\\nCONCLUSIONS/SIGNIFICANCE: We report the first GWAS of FSD symptoms in humans. This has pointed to several \"risk alleles\" and the implication of the serotonin and GABA pathways. Ultimately, understanding key mechanisms via this research may lead to new FSD treatments and inform clinical practice and developments in psychiatric nosology.", "link"=>"http://www.mendeley.com/research/genomewide-association-study-female-sexual-dysfunction", "reader_count"=>14, "reader_count_by_academic_status"=>{"Student > Doctoral Student"=>1, "Researcher"=>3, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>1, "Student > Master"=>3, "Student > Bachelor"=>2}, "reader_count_by_user_role"=>{"Student > Doctoral Student"=>1, "Researcher"=>3, "Student > Ph. D. Student"=>4, "Student > Postgraduate"=>1, "Student > Master"=>3, "Student > Bachelor"=>2}, "reader_count_by_subject_area"=>{"Unspecified"=>2, "Biochemistry, Genetics and Molecular Biology"=>1, "Medicine and Dentistry"=>3, "Agricultural and Biological Sciences"=>4, "Psychology"=>3, "Social Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>3}, "Social Sciences"=>{"Social Sciences"=>1}, "Psychology"=>{"Psychology"=>3}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>4}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}, "Unspecified"=>{"Unspecified"=>2}}, "reader_count_by_country"=>{"Malaysia"=>1}, "group_count"=>1}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/655695"], "description"=>"*<p>Effect, β coefficient of linear regression. The effect sizes denote changes in phenotype unit per each additional copy of the reference allele.</p>", "links"=>[], "tags"=>["snps", "measures", "cohort", "females", "european"], "article_id"=>326186, "categories"=>["Biological Sciences", "Mathematics", "Genetics", "Biotechnology"], "users"=>["Andrea Burri", "Pirro Hysi", "Alex Clop", "Qazi Rahman", "Tim D. Spector"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0035041.t001", "stats"=>{"downloads"=>2, "page_views"=>10, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Top_SNPs_associated_with_sexual_function_related_measures_in_a_cohort_of_females_of_European_ancestry_/326186", "title"=>"Top SNPs associated with sexual function related measures in a cohort of females of European ancestry.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-20 06:41:14"}
  • {"files"=>["https://ndownloader.figshare.com/files/655556"], "description"=>"<p>The LD blocks were defined by confidence intervals according to Gabriel and colleagues <a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035041#pone.0035041-Gabriel1\" target=\"_blank\">[45]</a>. The x-axis corresponds to the genomic position in kb and the red triangles defined by black lines represent LD blocks. The yellow arrow and the red box indicate the location of three GWAS associated SNP and the position of <i>HTR1E</i>, respectively.</p>", "links"=>[], "tags"=>["ld", "uses", "hapmapphase3", "ceu", "tsi", "caucasian", "populations", "encompasses", "800", "kbp", "containing", "snp", "chromosome"], "article_id"=>326030, "categories"=>["Biological Sciences", "Mathematics", "Genetics", "Biotechnology"], "users"=>["Andrea Burri", "Pirro Hysi", "Alex Clop", "Qazi Rahman", "Tim D. Spector"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0035041.g003", "stats"=>{"downloads"=>4, "page_views"=>318, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Haploview_LD_plot_The_plot_uses_the_hapmapPhase3_data_on_the_CEU_and_the_TSI_Caucasian_populations_and_encompasses_an_800_kbp_segment_containing_the_associated_SNP_on_chromosome_6_and_HTR1E_/326030", "title"=>"Haploview LD plot. The plot uses the hapmapPhase3 data on the CEU and the TSI Caucasian populations and encompasses an 800 kbp segment containing the associated SNP on chromosome 6 and <i>HTR1E</i>.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-20 06:40:27"}
  • {"files"=>["https://ndownloader.figshare.com/files/655442"], "description"=>"<p>TwinsUK discovery cohort. Negative logarithms of the P values for the association of each SNP with spherical equivalence are plotted. The lead SNP is plotted in diamond shape, with the GWAS-analysis P value for that SNP indicated. Genotyped SNPs are plotted as squares, with the colour indicating the degree of pairwise LD between the lead and neighbouring SNPs. Red indicates strong pairwise LD, with r2≥0.8; orange indicates moderate LD, with 0.5</p>", "links"=>[], "tags"=>["snps", "1mbp", "upstream"], "article_id"=>325930, "categories"=>["Biological Sciences", "Mathematics", "Genetics", "Biotechnology"], "users"=>["Andrea Burri", "Pirro Hysi", "Alex Clop", "Qazi Rahman", "Tim D. Spector"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0035041.g002", "stats"=>{"downloads"=>2, "page_views"=>23, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Association_scatter_plot_for_SNPs_in_the_gene_desert_approximately_1Mbp_upstream_of_the_HTR1E_gene_/325930", "title"=>"Association scatter plot for SNPs in the gene desert approximately 1Mbp upstream of the <i>HTR1E</i> gene.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-20 06:39:55"}
  • {"files"=>["https://ndownloader.figshare.com/files/655318"], "description"=>"<p>SNPs with <i>P</i>≤10–6 are highlighted with a red circle (n = 1104 females).</p>", "links"=>[], "tags"=>["plots", "describing", "snps", "lubrication"], "article_id"=>325810, "categories"=>["Biological Sciences", "Mathematics", "Genetics", "Biotechnology"], "users"=>["Andrea Burri", "Pirro Hysi", "Alex Clop", "Qazi Rahman", "Tim D. Spector"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0035041.g001", "stats"=>{"downloads"=>1, "page_views"=>5, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Manhattan_plots_describing_the_association_of_2_5_M_SNPs_with_sexual_arousal_lubrication_and_overall_sexual_functioning_/325810", "title"=>"Manhattan plots describing the association of 2.5 M SNPs with sexual arousal, lubrication and overall sexual functioning.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-20 06:39:15"}
  • {"files"=>["https://ndownloader.figshare.com/files/655655"], "description"=>"*<p>Bonferroni corrected p-value.</p>", "links"=>[], "tags"=>["markers", "reported", "problems"], "article_id"=>326145, "categories"=>["Biological Sciences", "Mathematics", "Genetics", "Biotechnology"], "users"=>["Andrea Burri", "Pirro Hysi", "Alex Clop", "Qazi Rahman", "Tim D. Spector"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0035041.t002", "stats"=>{"downloads"=>0, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_P_values_of_available_markers_in_our_GWAS_reported_to_be_associated_with_specific_sexual_problems_in_previous_candidate_gene_studies_/326145", "title"=>"P-values of available markers in our GWAS, reported to be associated with specific sexual problems in previous candidate gene studies.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-20 06:41:04"}

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  • {"unique-ip"=>"19", "full-text"=>"19", "pdf"=>"3", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"5"}
  • {"unique-ip"=>"12", "full-text"=>"11", "pdf"=>"6", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"1", "year"=>"2019", "month"=>"8"}

Relative Metric

{"start_date"=>"2012-01-01T00:00:00Z", "end_date"=>"2012-12-31T00:00:00Z", "subject_areas"=>[{"subject_area"=>"/Biology and life sciences/Behavior", "average_usage"=>[354, 559, 676, 770, 854, 949, 1040, 1128, 1220, 1295, 1364, 1439, 1511, 1580, 1636, 1693, 1753, 1808, 1882, 1944, 2019, 2070, 2120, 2176, 2247]}, {"subject_area"=>"/Biology and life sciences/Cell biology", "average_usage"=>[319, 556, 679, 785, 881, 970, 1062, 1149, 1236, 1323, 1402, 1474, 1545, 1617, 1681, 1754, 1822, 1892, 1963, 2031, 2099, 2165, 2233, 2299, 2359]}, {"subject_area"=>"/Biology and life sciences/Computational biology", "average_usage"=>[375, 629, 760, 889, 1000, 1110, 1203, 1298, 1399, 1492, 1603, 1699, 1774, 1855, 1918, 1998, 2062, 2152, 2227, 2312, 2378, 2461, 2528, 2600, 2664]}, {"subject_area"=>"/Biology and life sciences/Molecular biology", "average_usage"=>[324, 551, 679, 782, 879, 971, 1064, 1154, 1245, 1328, 1406, 1476, 1541, 1617, 1683, 1754, 1818, 1893, 1962, 2025, 2092, 2164, 2227, 2294, 2355]}, {"subject_area"=>"/Medicine and health sciences", "average_usage"=>[312, 547, 668, 769, 861, 953, 1046, 1135, 1224, 1307, 1388, 1464, 1536, 1606, 1676, 1744, 1812, 1882, 1954, 2020, 2089, 2155, 2218, 2282, 2344]}, {"subject_area"=>"/Medicine and health sciences/Mental health and psychiatry", "average_usage"=>[341, 608, 746, 856, 954, 1057, 1164, 1270, 1368, 1453, 1563, 1640, 1735, 1813, 1893, 1982, 2056, 2134, 2213, 2310, 2366, 2434, 2496, 2563, 2624]}, {"subject_area"=>"/Medicine and health sciences/Urology", "average_usage"=>[354, 588, 721, 835, 935, 1015, 1103, 1217, 1309, 1400, 1505, 1594, 1662, 1738, 1799, 1873, 1937, 2016, 2085, 2151, 2234, 2302, 2401, 2443, 2500]}, {"subject_area"=>"/Medicine and health sciences/Women's health", "average_usage"=>[335, 562, 652, 758, 855, 968, 1105, 1204, 1286, 1399, 1500, 1586, 1673, 1753, 1811, 1907, 1974, 2053, 2111, 2191, 2264, 2350, 2410, 2486, 2541]}]}
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