{"id":4373,"date":"2010-04-28T15:08:02","date_gmt":"2010-04-28T13:08:02","guid":{"rendered":"http:\/\/www.wjst.de\/blog\/?p=4373"},"modified":"2010-06-12T06:59:56","modified_gmt":"2010-06-12T04:59:56","slug":"rs4711-uh-rs7041","status":"publish","type":"post","link":"https:\/\/www.wjst.de\/blog\/sciencesurf\/2010\/04\/rs4711-uh-rs7041\/","title":{"rendered":"rs4711, uh rs7041"},"content":{"rendered":"

The first GWAS of human vitamin serum D<\/a> level finds the most important SNPs:<\/p>\n

\nIn a genome-wide association study (GWAS) of 4,501 persons of European ancestry drawn from five cohorts, we identified single nucleotide polymorphisms (SNPs) in the gene encoding group-specific component (vitamin D binding) protein, GC, on chromosome 4q12-13 that were associated with 25(OH)D concentrations: rs2282679 (P=2.0 x 10\u00e2\u20ac\u201c30), in LD with rs7041, a nonsynonymous SNP (D432E; P=4.1 x 10-22), and rs1155563 (P = 3.8 x 10\u00e2\u20ac\u201c25).\n<\/p><\/blockquote>\n

Funny, rs7041 is the same variant that we typed earlier<\/a> with limited success<\/a> – maybe I should have also tested for FEV1 in adults only?? At least a new COPD study this month in Thorax<\/a> arrives at this conclusion.<\/p>\n

\n In patients with COPD, 25-OHD levels correlated significantly with forced expiratory volume in 1 s (FEV1) (r=0.28, p<0.0001) [...] Logistic regression corrected for age, gender and smoking history further revealed that homozygous carriers of the rs7041 T allele exhibited an increased risk for COPD (OR 2.11; 95% CI 1.20 to 3.71; p=0.009).\n<\/p><\/blockquote>\n

What really worries me – all these lines are not drawn in the original papers. A most recent review on COPD genetics even fignores GC<\/a> as a candidate, nay, nay.<\/p>\n

Addendum 12-6-2010<\/h3>\n

The 2nd genome screen<\/a> confirms GC with GWAS significance at<\/p>\n

4p12 (overall p=1\u00c2\u00b79\u00c3\u201410^-9 for rs2282679, in GC); 11q12 (p=2\u00c2\u00b71\u00c3\u201410^\u00e2\u02c6\u201927 for rs12785878, near DHCR7); and 11p15 (p=3\u00c2\u00b73\u00c3\u201410^\u00e2\u02c6\u201920 for rs10741657, near CYP2R1). Variants at an additional locus (20q13, CYP24A1) were genome-wide significant in the pooled sample (p=6\u00c2\u00b70\u00c3\u201410\u00e2\u02c6\u201910 for rs6013897).<\/p><\/blockquote>\n\n

 <\/p>\n

\n CC-BY-NC Science Surf , accessed 10.04.2026<\/span>\n <\/div>","protected":false},"excerpt":{"rendered":"

The first GWAS of human vitamin serum D level finds the most important SNPs: In a genome-wide association study (GWAS) of 4,501 persons of European ancestry drawn from five cohorts, we identified single nucleotide polymorphisms (SNPs) in the gene encoding group-specific component (vitamin D binding) protein, GC, on chromosome 4q12-13 that were associated with 25(OH)D … Continue reading rs4711, uh rs7041<\/span> →<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8,2,10],"tags":[1287],"class_list":["post-4373","post","type-post","status-publish","format-standard","hentry","category-asthma-allergy","category-genetics-biology","category-sunshine-vitamin","tag-vitamin-d"],"_links":{"self":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/4373","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/comments?post=4373"}],"version-history":[{"count":8,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/4373\/revisions"}],"predecessor-version":[{"id":4484,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/4373\/revisions\/4484"}],"wp:attachment":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/media?parent=4373"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/categories?post=4373"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/tags?post=4373"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}