Common Variants in CYP2R1 and GC Genes Predict Vitamin D Concentrations in Healthy Danish Children and Adults
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{"title"=>"Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children", "type"=>"journal", "authors"=>[{"first_name"=>"Janna", "last_name"=>"Nissen", "scopus_author_id"=>"56070723800"}, {"first_name"=>"Lone Banke", "last_name"=>"Rasmussen", "scopus_author_id"=>"7201874815"}, {"first_name"=>"Gitte", "last_name"=>"Ravn-Haren", "scopus_author_id"=>"8346721200"}, {"first_name"=>"Elisabeth", "last_name"=>"Wreford Andersen", "scopus_author_id"=>"37110428200"}, {"first_name"=>"Bettina", "last_name"=>"Hansen", "scopus_author_id"=>"7403015345"}, {"first_name"=>"Rikke", "last_name"=>"Andersen", "scopus_author_id"=>"7402653772"}, {"first_name"=>"Heddie", "last_name"=>"Mejborn", "scopus_author_id"=>"14822349700"}, {"first_name"=>"Katja Howarth", "last_name"=>"Madsen", "scopus_author_id"=>"55816206000"}, {"first_name"=>"Ulla", "last_name"=>"Vogel", "scopus_author_id"=>"7102692493"}], "year"=>2014, "source"=>"PLoS ONE", "identifiers"=>{"pui"=>"372629994", "sgr"=>"84896380840", "issn"=>"19326203", "pmid"=>"24587115", "scopus"=>"2-s2.0-84896380840", "doi"=>"10.1371/journal.pone.0089907", "isbn"=>"1932-6203"}, "id"=>"190c82aa-fab2-31b0-ba35-17b55807799e", "abstract"=>"Environmental factors such as diet, intake of vitamin D supplements and exposure to sunlight are known to influence serum vitamin D concentrations. Genetic epidemiology of vitamin D is in its infancy and a better understanding on how genetic variation influences vitamin D concentration is needed. We aimed to analyse previously reported vitamin D-related polymorphisms in relation to serum 25(OH)D concentrations in 201 healthy Danish families with dependent children in late summer in Denmark. Serum 25(OH)D concentrations and a total of 25 SNPs in GC, VDR, CYP2R1, CYP24A1, CYP27B1, C10or88 and DHCR7/NADSYN1 genes were analysed in 758 participants. Genotype distributions were in Hardy-Weinberg equilibrium for the adult population for all the studied polymorphisms. Four SNPs in CYP2R1 (rs1562902, rs7116978, rs10741657 and rs10766197) and six SNPs in GC (rs4588, rs842999, rs2282679, rs12512631, rs16846876 and rs17467825) were statistically significantly associated with serum 25(OH)D concentrations in children, adults and all combined. Several of the SNPs were in strong linkage disequilibrium, and the associations were driven by CYP2R1-rs10741657 and rs10766197, and by GC-rs4588 and rs842999. Genetic risk score analysis showed that carriers with no risk alleles of CYP2R1-rs10741657 and rs10766197, and/or GC rs4588 and rs842999 had significantly higher serum 25(OH)D concentrations compared to carriers of all risk alleles. To conclude, our results provide supporting evidence that common polymorphisms in GC and CYP2R1 are associated with serum 25(OH)D concentrations in the Caucasian population and that certain haplotypes may predispose to lower 25(OH)D concentrations in late summer in Denmark.", "link"=>"http://www.mendeley.com/research/common-variants-cyp2r1-gc-genes-predict-vitamin-d-concentrations-healthy-danish-children", "reader_count"=>51, "reader_count_by_academic_status"=>{"Unspecified"=>2, "Librarian"=>1, "Researcher"=>10, "Student > Doctoral Student"=>2, "Student > Ph. D. Student"=>10, "Student > Postgraduate"=>4, "Student > Master"=>6, "Other"=>5, "Student > Bachelor"=>5, "Lecturer"=>1, "Lecturer > Senior Lecturer"=>1, "Professor"=>4}, "reader_count_by_user_role"=>{"Unspecified"=>2, "Librarian"=>1, "Researcher"=>10, "Student > Doctoral Student"=>2, "Student > Ph. D. Student"=>10, "Student > Postgraduate"=>4, "Student > Master"=>6, "Other"=>5, "Student > Bachelor"=>5, "Lecturer"=>1, "Lecturer > Senior Lecturer"=>1, "Professor"=>4}, "reader_count_by_subject_area"=>{"Unspecified"=>5, "Engineering"=>1, "Biochemistry, Genetics and Molecular Biology"=>5, "Nursing and Health Professions"=>4, "Mathematics"=>2, "Agricultural and Biological Sciences"=>14, "Medicine and Dentistry"=>16, "Pharmacology, Toxicology and Pharmaceutical Science"=>1, "Sports and Recreations"=>1, "Social Sciences"=>1, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Engineering"=>{"Engineering"=>1}, "Medicine and Dentistry"=>{"Medicine and Dentistry"=>16}, "Social Sciences"=>{"Social Sciences"=>1}, "Sports and Recreations"=>{"Sports and Recreations"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>14}, "Computer Science"=>{"Computer Science"=>1}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>4}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}, "Mathematics"=>{"Mathematics"=>2}, "Unspecified"=>{"Unspecified"=>5}, "Pharmacology, Toxicology and Pharmaceutical Science"=>{"Pharmacology, Toxicology and Pharmaceutical Science"=>1}}, "reader_count_by_country"=>{"Denmark"=>1}, "group_count"=>7}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1401437"], "description"=>"<p>X-axis stands for the sum of risk alleles. Y-axis stand for serum 25(OH)D (nmol/L). Errors bars stand for 95%-confidence interval and serum 25(OH)D concentrations are given as geometric means. Linear mixed models with family as a random factor, adjusted for age, sex, BMI, ski and sun holidays, solarium use at least once a week, dietary vitamin D intake, multivitamin and vitamin D supplement users was conducted to compare sum of risk alleles and serum 25(OH)D concentrations. Increasing number of risk alleles give rise to decreasing 25(OH)D concentrations.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Genetic association studies", "Personalized medicine", "population genetics", "Genetic polymorphism", "haplotypes", "mutation", "nutrition", "malnutrition", "vitamins", "adults"], "article_id"=>946969, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Janna Nissen", "Lone Banke Rasmussen", "Gitte Ravn-Haren", "Elisabeth Wreford Andersen", "Bettina Hansen", "Rikke Andersen", "Heddie Mejborn", "Katja Howarth Madsen", "Ulla Vogel"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0089907.g001", "stats"=>{"downloads"=>1, "page_views"=>19, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Genetic_risk_score_for_CYP2R1_rs10741657_and_rs10766197_Figure_A_GC_r4588_and_rs842999_figure_B_and_CYP2R1_rs10741657_and_rs10766197_and_GC_r4588_and_rs842999_figure_C_in_children_adults_and_all_combined_/946969", "title"=>"Genetic risk score for <i>CYP2R1</i> (rs10741657 and rs10766197) (Figure A), <i>GC</i> (r4588 and rs842999) (figure B) and <i>CYP2R1</i> (rs10741657 and rs10766197) and <i>GC</i> (r4588 and rs842999) (figure C) in children, adults and all combined.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-02-27 03:27:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1401452"], "description"=>"<p>X-axis stands for genotype GG (GG), GX (GC or GA) and XX (CC, CA or AA) of rs842999. Y-axis stand for serum 25(OH)D (nmol/L). Errors bars stand for 95%-confidence interval and serum 25(OH)D concentrations are given as geometric means. Linear mixed models with family as a random factor, adjusted for age, sex, BMI, ski and sun holidays, solarium use at least once a week, dietary vitamin D intake, multivitamin and vitamin D supplement users was conducted to compare rs842999 genotypes with serum 25(OH)D concentrations. There was a dose-dependent relationship between serum 25(OH)D concentrations and carriers of none, one or two copies of the G-allele. Carriers of two copies of the G-allele, had higher serum 25(OH)D concentrations compared to carriers with only one G-allele or non-carriers in children, adults and all combined, respectively.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Genetic association studies", "Personalized medicine", "population genetics", "Genetic polymorphism", "haplotypes", "mutation", "nutrition", "malnutrition", "vitamins", "genotype", "gx", "xx", "rs842999", "serum"], "article_id"=>946971, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Janna Nissen", "Lone Banke Rasmussen", "Gitte Ravn-Haren", "Elisabeth Wreford Andersen", "Bettina Hansen", "Rikke Andersen", "Heddie Mejborn", "Katja Howarth Madsen", "Ulla Vogel"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0089907.g002", "stats"=>{"downloads"=>0, "page_views"=>28, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Dose_dependent_relationship_between_genotype_GG_GX_and_XX_of_rs842999_and_serum_25_OH_D_concentrations_/946971", "title"=>"Dose-dependent relationship between genotype GG, GX and XX of rs842999 and serum 25(OH)D concentrations.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2014-02-27 03:27:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1401454"], "description"=>"<p>Bold numbers represent significant P values.</p><p>Haplotype combinations were manually inferred and numbered. Homozygote haplotype combinations were numbered 11, 22, 33 and 44. The combinations of the heterozygote haplotypes (12 to 24) were given by one number of each homozygote haplotype e.g. 11+ 22 = 12.</p><p>* Also haplotype combination 34, but the most likely haplotype combination is 12.</p>1<p><i>M</i> major allele, <i>m</i> minor allele.</p>2<p>Raw geometric mean of serum 25(OH)D concentrations (nmol/L) and corresponding 95%-confidence interval.</p>3<p>Adjusted geometric mean of 25(OH)D concentrations (nmol/L) ) and corresponding 95%-confidence interval. Linear mixed models with family as a random factor, adjusted for age, sex, BMI, ski and sun holidays, use of solarium, dietary vitamin D intake, use of multivitamin and vitamin D supplements.</p>adj<p>Adjusted P values. Haplotype combination 44 was excluded in the linear mixed model due to inadequate participants carrying this haplotype combination.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Genetic association studies", "Personalized medicine", "population genetics", "Genetic polymorphism", "haplotypes", "mutation", "nutrition", "malnutrition", "vitamins", "haplotype", "combinations", "serum", "concentrations", "adults"], "article_id"=>946972, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Janna Nissen", "Lone Banke Rasmussen", "Gitte Ravn-Haren", "Elisabeth Wreford Andersen", "Bettina Hansen", "Rikke Andersen", "Heddie Mejborn", "Katja Howarth Madsen", "Ulla Vogel"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0089907.t003", "stats"=>{"downloads"=>0, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Distribution_of_CYP2R1_haplotype_combinations_and_serum_25_OH_D_concentrations_in_children_adults_and_all_combined_/946972", "title"=>"Distribution of <i>CYP2R1</i> haplotype combinations and serum 25(OH)D concentrations in children, adults and all combined.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-02-27 03:27:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1401455"], "description"=>"<p>Bold numbers represent significant P values.</p><p><i>SNP</i> single nucleotide polymorphism (ordered by position), <i>MAF</i> minor allele frequency for the adult population in procent, <i>HWE</i> P-values for Hardy-Weinberg equilibrium in the adult population, <i>M/m</i> major and minor alleles, <i>Gt</i> genotype, <i>Mean</i>, raw serum 25(OH)D concentrations were log-transformed to approximate a normal distribution an given as geometric mean (nmol/L), <i>95% CI</i> 95%-confident interval.</p>1<p>Unadjusted P values.</p>2<p>Adjusted P values. Linear mixed models with family as a random factor, adjusted for age, sex, BMI, ski and sun holidays, use of solarium, dietary vitamin D intake, use of multivitamin and vitamin D supplementation.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Genetic association studies", "Personalized medicine", "population genetics", "Genetic polymorphism", "haplotypes", "mutation", "nutrition", "malnutrition", "vitamins", "snp", "serum", "concentrations", "adults"], "article_id"=>946973, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Janna Nissen", "Lone Banke Rasmussen", "Gitte Ravn-Haren", "Elisabeth Wreford Andersen", "Bettina Hansen", "Rikke Andersen", "Heddie Mejborn", "Katja Howarth Madsen", "Ulla Vogel"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0089907.t002", "stats"=>{"downloads"=>4, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Basic_characteristics_of_the_individual_SNP_and_the_association_with_serum_25_OH_D_concentrations_in_children_adults_and_all_combined_/946973", "title"=>"Basic characteristics of the individual SNP and the association with serum 25(OH)D concentrations in children, adults and all combined.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-02-27 03:27:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1401456"], "description"=>"<p>*Mean ± SD.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Genetic association studies", "Personalized medicine", "population genetics", "Genetic polymorphism", "haplotypes", "mutation", "nutrition", "malnutrition", "vitamins", "determinants", "serum"], "article_id"=>946974, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Janna Nissen", "Lone Banke Rasmussen", "Gitte Ravn-Haren", "Elisabeth Wreford Andersen", "Bettina Hansen", "Rikke Andersen", "Heddie Mejborn", "Katja Howarth Madsen", "Ulla Vogel"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0089907.t001", "stats"=>{"downloads"=>0, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Basic_characteristics_of_the_study_population_and_determinants_of_serum_25_OH_D_concentrations_/946974", "title"=>"Basic characteristics of the study population and determinants of serum 25(OH)D concentrations", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-02-27 03:27:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/1401457"], "description"=>"<p>Bold numbers represent significant P values.</p><p>Haplotype combinations were manually inferred and numbered. Homozygote haplotype combinations were numbered 11, 22, 33, 44 and 55. The combinations of the heterozygote haplotypes (12 to 45) were given by one number of each homozygote haplotype e.g. 1 + 2 = 12.</p>1<p><i>M</i> major allele, <i>m</i> minor allele.</p>2<p>Raw geometric mean of serum 25(OH)D concentrations (nmol/L) and corresponding 95%-confidence interval.</p>3<p>Adjusted geometric mean of 25(OH)D concentrations (nmol/L) and corresponding 95%-confidence interval. Linear mixed models with family as a random factor, adjusted for age, sex, BMI, holiday, use of solarium, dietary vitamin D intake, use of multivitamin and vitamin D supplements.</p>adj<p>Adjusted P values. Haplotype combination 44 was excluded in the linear mixed model due to inadequate participants carrying this haplotype combination.</p>", "links"=>[], "tags"=>["genetics", "Human genetics", "Genetic association studies", "Personalized medicine", "population genetics", "Genetic polymorphism", "haplotypes", "mutation", "nutrition", "malnutrition", "vitamins", "haplotype", "combinations", "serum", "concentrations", "adults"], "article_id"=>946975, "categories"=>["Biological Sciences", "Medicine"], "users"=>["Janna Nissen", "Lone Banke Rasmussen", "Gitte Ravn-Haren", "Elisabeth Wreford Andersen", "Bettina Hansen", "Rikke Andersen", "Heddie Mejborn", "Katja Howarth Madsen", "Ulla Vogel"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0089907.t004", "stats"=>{"downloads"=>0, "page_views"=>19, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Distribution_of_GC_haplotype_combinations_and_serum_25_OH_D_concentrations_in_children_adults_and_all_combined_/946975", "title"=>"Distribution of <i>GC</i> haplotype combinations and serum 25(OH)D concentrations in children, adults and all combined.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2014-02-27 03:27:08"}

PMC Usage Stats | Further Information

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  • {"unique-ip"=>"23", "full-text"=>"28", "pdf"=>"16", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2014", "month"=>"12"}
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  • {"unique-ip"=>"15", "full-text"=>"17", "pdf"=>"6", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"4"}
  • {"unique-ip"=>"27", "full-text"=>"28", "pdf"=>"8", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"5"}
  • {"unique-ip"=>"14", "full-text"=>"16", "pdf"=>"6", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"6"}
  • {"unique-ip"=>"11", "full-text"=>"12", "pdf"=>"4", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"7"}
  • {"unique-ip"=>"25", "full-text"=>"36", "pdf"=>"12", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"4", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"8"}
  • {"unique-ip"=>"18", "full-text"=>"12", "pdf"=>"8", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"9"}
  • {"unique-ip"=>"18", "full-text"=>"19", "pdf"=>"5", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"10"}
  • {"unique-ip"=>"23", "full-text"=>"30", "pdf"=>"10", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"11"}
  • {"unique-ip"=>"11", "full-text"=>"17", "pdf"=>"5", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"12"}
  • {"unique-ip"=>"16", "full-text"=>"20", "pdf"=>"6", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"1"}
  • {"unique-ip"=>"1", "full-text"=>"1", "pdf"=>"0", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2018", "month"=>"2"}
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  • {"unique-ip"=>"30", "full-text"=>"28", "pdf"=>"7", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2019", "month"=>"1"}
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Relative Metric

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