{"id":1038,"date":"2007-06-08T10:35:41","date_gmt":"2007-06-08T09:35:41","guid":{"rendered":"http:\/\/www.wjst.de\/blog\/2007\/06\/08\/busy-times\/"},"modified":"2007-11-02T17:27:32","modified_gmt":"2007-11-02T15:27:32","slug":"busy-times","status":"publish","type":"post","link":"https:\/\/www.wjst.de\/blog\/sciencesurf\/2007\/06\/busy-times\/","title":{"rendered":"Busy times"},"content":{"rendered":"

The last 2 weeks have been extremely busy in population genetics – probably more advances than in the 2 decades before with 2 dozens GWAs (genome wide association scans<\/a>) being published:<\/p>\n

Nature Genetics published on
\n1 Apr prostate cancer<\/a>: rs1447295\/rs6983267 DQ515897
\n26 Apr type II diabetes<\/a>: TCF7L2, CDKAL1
\n1 May Crohns disease<\/a>: CARD15, IL23R, ATG16L1, PHOX2B, NCF4, 16q24.1 (FAM92B)
\n13 May obesity<\/a>: FTO
\n27 May breast cancer<\/a>: FGFR2
\n27 May breast cancer<\/a>: rs13387042, rs3803662 (TNRC9?)
\n6 June Crohns disease<\/a>: IRGM, NKX2-3, PTPN2, 1q, 5p13
\n6 June type 1 diabetes<\/a>: 12q24, 12q13, 16p13, 18p11
\n10 June celiac disease<\/a>: KIAA1109-TENR-IL2-IL21
\n1 July type 2 diabetes<\/a>: WFS1
\n1 July type 2 diabetes<\/a>: TCF2
\n1 July prostate cancer<\/a>: 17q (TCF2)<\/p>\n

Nature published on
\n26 May bipolar disorder<\/a>: PALB2, NDUFAB1, DCTN5, KCNC2, GABRB1
\ndto coronary artery disease: CDKN2A, MTAP, MTHFD1L, ADAMT217
\ndto Crohn’s disease: CARD15, 5q31, IL23R, ATG16L1, ZNF365, IRGM, MST1, NKX2-3, PTPN2, HLA, TFNAIP3, STAT3, CD40LG
\ndto hypertension: RYR2?, CHRM3?
\ndto rheumatoid arthritis: PTPN22, CTLA4, IL2RA, TNFAIP2, GZMB, KAZALD1, HLA
\ndto type 1 diabetes: HLA, PTPN22, IL2RA, CTLA-4, IFIH1, ERBB3?, PTPN11?, CD69?
\ndto type 2 diabetes: PPARG, KCNJ11, TCF7L2, FTO, CDKAL1, CDKN2A, IGF2BP2
\n27 May breast cancer<\/a>: FGFR2, TNRC9, MAP3K1, LSP1
\n1 July atrial fibrillation<\/a>: PITX2<\/p>\n

Science published on
\n1 June type II diabetes<\/a>: CDKN2A, IGF2BP2, HHEX, SLC30A8, GCKR
\n1 June type II diabetes<\/a>: CDKAL1, CDKN2A, IGF2BP2, HHEX, SLC30A8
\n1 June type II diabetes<\/a>: CDKAL1, CDKN2A, TCF7L2, SLC30A8, HHEX, FTO, PPARG, KCNJ11
\n8 Jun coronary heart disease<\/a>: CDKN2A
\n8 Jun myocardial infarction<\/a>: CDKN2A<\/p>\n

American Journal Human Genetics published on
\n8 Mar progressive supranuclear palsy: MAPT, DDB2\/ ACP2
\n7 May type II diabetes<\/a>: TCF7L2<\/p>\n

Molecular Psychiatry published earlier on bipolar disease<\/a> and DGKH, a reminder not to forget the ~10 or so pooling studies, e.g. for RA<\/a> describing HLA, PTPN22 + MAGI3, for asthma<\/a> describing ATPAF1 + IL1RAPL2 or for lung cancer<\/a> describing KLF6.<\/p>\n

It will probably take a long time to figure out what this will mean for an individual. I expect genetics to be only useful if it will reveal targets for new drug treatment or if it will help to define subgroups that benefit from a dedicated treatment.<\/p>\n

There is clearly a bias towards common results as all these studies relied more or less on the same SNP sets ;-) One of the master questions, however, are there any disease hubs? The Wellcome Trust Case Control Consortium<\/a> already noticed<\/p>\n

\nWe observed association at many previously identified loci, and found compelling evidence that some loci confer risk for more than one of the diseases studied.\n<\/p><\/blockquote>\n

There might still be many artifacts as there are errors in assignment of SNPs as I showed here earlier<\/a>. Only rheumatoid arthritis had sex specific effects which comes quite unexpected.<\/p>\n

There could be also stratification effects introduced by the control population (will come back to that later). And of course, none of the papers showed the genetic architecture of a disease. Like the early expression experiments – these studies show only the top hits. This might be quite irrelevant as I expect mainly combinations of variations to be influential.<\/p>\n

BTW, a disappointing situation as that there is virtually no contribution of German science. Yea, yea.<\/p>\n

Addendum<\/h3>\n

15-6-07 The Lancet<\/a> comments “Big step for science, small step for medicine”. I agree.<\/p>\n\n

 <\/p>\n

\n CC-BY-NC Science Surf , accessed 06.04.2026<\/span>\n <\/div>","protected":false},"excerpt":{"rendered":"

The last 2 weeks have been extremely busy in population genetics – probably more advances than in the 2 decades before with 2 dozens GWAs (genome wide association scans) being published:   CC-BY-NC Science Surf , accessed 06.04.2026<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[2],"tags":[1105,1103,1062,1108,1104,1107,1106,1101,1102],"class_list":["post-1038","post","type-post","status-publish","format-standard","hentry","category-genetics-biology","tag-bipolar_disorder","tag-breast_cancer","tag-coronary_heart_disease","tag-crohn_s_disease","tag-crohns_disease","tag-myocardial_infarction","tag-rheumatoid_arthritis","tag-type_1_diabetes","tag-type_2_diabetes"],"_links":{"self":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/1038","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=1038"}],"version-history":[{"count":0,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/1038\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/media?parent=1038"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/categories?post=1038"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/tags?post=1038"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}