{"id":3522,"date":"2010-01-04T12:30:34","date_gmt":"2010-01-04T10:30:34","guid":{"rendered":"http:\/\/www.wjst.de\/blog\/?p=3522"},"modified":"2010-01-04T12:31:14","modified_gmt":"2010-01-04T10:31:14","slug":"279-cases-of-imprinted-human-loci","status":"publish","type":"post","link":"https:\/\/www.wjst.de\/blog\/sciencesurf\/2010\/01\/279-cases-of-imprinted-human-loci\/","title":{"rendered":"279 cases of imprinted human loci"},"content":{"rendered":"<p><a href=\"http:\/\/igc.otago.ac.nz\/FMPro?-DB=Catalogue.fm&#038;-error=Error.html&#038;-Format=Record3.html&#038;Genetype=maingene&#038;-SortField=Species&#038;custom=Species&#038;-SortField=Chr&#038;custom=Chromosome&#038;-SortField=Location&#038;-SortOrder=Ascending&#038;-Max=all&#038;-Find\">igc.otago.ac.nz<\/a> has a nice list of all imprinted human loci. I have reworked that list and found that most (150) do not have any disease association. Diseases influenced by imprinted marks are<!--more--><\/p>\n<blockquote><p>\nAlcoholism\tType II diabetes susceptibility locus\tNeuroblastoma tumour suppressor locus\tBipolar affective disorder\tRelative hand skill\tSchizophrenia\t4q21\/q23 syndrome\tAsthma\tChildhood-onset schizophrenia\tCornelia de Lange syndrome\tCleft palate\tBody mass index (BMI), obesity\tPsoriasis\tIgA deficiency\tT1D\tCeliac disease\tOdour preference\tMultiple sclerosis\tTransient neonatal diabetes\tAcute myeloid leukaemia\tSilver-Russell syndrome\tWilliams syndrome\tAutism susceptibility\tBirk Barel mental retardation dysmorphism syndrome\tSomatic deletion in ALL\t9p22-pter phenotype\tABO blood group\tObesity and BMI\tAlzheimer disease\tpre-eclampsia\tSilver Russell Syndrome\tGingival fibromatosis\tBeckwith-Wiedemann syndrome (BWS)\tBirth weight\tGilles de la Tourette syndrome\tJacobsen syndrome deletions\tPrader-Willi syndrome (PWS)\tAngelman syndrome\tAutism\tPolycystic kidney disease\tType 1 diabetes\tPsoriatic arthritis\tAdult height\t18q- syndrome\tOligodendrogliomas\tProgressive diaphyseal dysplasia\tMyotonic dystrophy\tDiGeorge \/ velocardiofacial syndrome\tSchizophrenia linkage\tHaematopoiesis\tLongevity\tType I diabetes\tClotting factor VIII\tJuvenile idiopathic arthritis\tMosaic genome-wide paternal UPD\tHypertrophic Cardiomyopathy\tSpina bifida\tPsoriasis and Psoriatic arthritis\tEpilepsy\tAtrial septal defects\tPanic disorder\tRheumatoid arthritis\tCrohn disease\tIMAGE association\tPost traumatic stress disorder in offspring of Holocaust survivors\tX inactivation\tUPD\tMale transsexuals\tTurner syndrome &#8211; Superior temporal gyrus morphology\tKlinefelter syndrome\tTurner syndrome phenotypes\tPremature ovarian failure associated with fragile X\n<\/p><\/blockquote>\n<p>Affected genes are<\/p>\n<blockquote><p>\nDIRAS3 (ARHI, NOEY2) (Provisional data)\tEPS15\tL211\tTP73\tLRRTM1\tU2AF1L1 (U2AF1-RS1, U2AFBPL, Zrsr1)\tCOMMD1 (Murr1)\tN-MYC\tSCA7\tRASSF1 (RASSF1A)\tSFRP2\tAPC\tSPINK5\tclone L59\tPRIM2 (PRIM2A)\tHFE\tHLA class Ia antigens\tBRD2 (EMJ1)\tC6orf66\tPLAGL1 (ZAC, LOT1)\tHYMAI\tIDDM8\tIGF2R (M6PR) (disputed)\tMAS1 (disputed)\tSLC22A2\tSLC22A3\tGRB10 (MEG1)\tDDC\tCALCR\tGNGT1\tTFPI2\tSGCE (epsilon-sarcoglycan)\tPEG10\tPPP1R9A (neurabin-I)\tPON1 (Paraoxonase 1)\tPON3 (paraoxonase 3)\tPON2 (paraoxonase 2)\tASB4\tDLX5 (refuted)\tAPS\tHypothetical protein DKFZp761N09121\tCPA4\tMEST (PEG1)\tMESTIT1 (PEG1-AS)\tCOPG2IT1 (MIT1, CIT1)\tCOPG2 (disputed)\tKLF14\tAutism\tCNTNAP2 (autism)\tDLGAP2\tKCNK9\tIDDM10\tRET or other modifier gene\tCTNNA3\tSTOX1\tINPP5F_V2\tAWT1 (WT1 alternative)\tWT1-AS (provisional)\tBDNF\tCD44\tZNF215 (provisional evidence)\tAMPD3\tH19, miR-675\tIGF2\tIGF2AS, PEG8\tINS, insulin\tTH\tASCL2 (HASH2)\tTSPAN32 (PHEMX, TSSC6)\tCD81 (TAPA1)\tTSSC4\tTRPM5 (LTRPC5, MTR1)\tKCNQ1, KvLQT1\tKCNQ1OT1 (LIT1, KvLQT1-AS, KvDMR1)\tKCNQ1DN (BWRT)\tCDKN1C (p57KIP2)\tSLC22A18AS (SLC22A1LS, BWR1B, BWSCR1B, ORCTL2S)\tSLC22A18 (BWR1A, BWSCR1A, HET, IMPT1, ITM, ORCTL2, SLC22A1L, TSSC5)\tPHLDA2 (TSSC3, IPL, BWR1C)\tOSBPL5 (OBPH1)\tMS4A2, FCERI, FCERIB (Fc epsilon RI-beta),\tDHCR7\tSDHD\tSLC38A4 (NAT3, ATA3)\tWIF1\tDCN\tRB locus\tHTR2A (disputed)\tPHF11 (LOC51131)\tFLJ13639\tSCA8\tTGFB3\tIG-DMR epimutation syndromes\tBEGAIN (KIAA1446)\tDLK1 (PEG9)\tDLK1 downstream transcripts\tMEG3 (GTL2)\tMEG8\tDIO3\tMKRN3 (ZNF127)\tNDN\tMAGEL2 (NDNL1)\tW89101 (provisional)\tSNURF, SNRPN, SNORD107 (HBII-436), SNORD64 (HBII-13), SNORD108(HBII-437), SNORD109A (HBII438A), SNORD116@ (PWCR1; HBII-85), SNORD115@ (HBII-52), SNORD109B (HBII438B), UBE3A-AS (incl. IPW,PAR-SN,PAR1,PAR5)\tUBE3A\tATP10A (ATP10C)\tGABRB3, GABRA5, GABRG3 (conflicting evidence)\tH73492 (Hs.268983) (provisional)\tRASGRF1 (GRF1)\tIL4R (Interleukin 4 receptor)\tZNF597 (FLJ33071)\tGNAL\tType II diabetes susceptibility locus\tClone L3\tIMPACT\tTCEB3C (Elongin A3)\tZNF331 (ZNF463) (provisional evidence)\tUSP29, ZIM3, ZNF264\tITUP1 (MIM1, MIMT1, IMPO1)\tPEG3, ZIM2\tBLCAP (BC10)\tNNAT (Neuronatin)\tPSIMCT-1 (MCTS2, MCTS1 pseudogene)\tHM13 (H13)\tDifferentially methylated gene\tL3MBTL\tGNAS1, Gs alpha, NESP55, XLalpha s, SANG (GNAS1-AS)\tMaternally methylated CpG islands\tamyloid beta A4 precursor protein, APP\tclone L88\tTCOF1\tHLA class II genes\tHLA-DQ\tHLA-DR3\tHLA-DRB1*15\n<\/p><\/blockquote>\n\n<p>&nbsp;<\/p>\n<div class=\"bottom-note\">\n  <span class=\"mod1\">CC-BY-NC Science Surf , accessed 05.04.2026<\/span>\n <\/div>","protected":false},"excerpt":{"rendered":"<p>igc.otago.ac.nz has a nice list of all imprinted human loci. I have reworked that list and found that most (150) do not have any disease association. Diseases influenced by imprinted marks are &nbsp; CC-BY-NC Science Surf , accessed 05.04.2026<\/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":[287,2588],"class_list":["post-3522","post","type-post","status-publish","format-standard","hentry","category-genetics-biology","tag-epigenetics","tag-imprinting"],"_links":{"self":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/3522","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=3522"}],"version-history":[{"count":4,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/3522\/revisions"}],"predecessor-version":[{"id":3526,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/posts\/3522\/revisions\/3526"}],"wp:attachment":[{"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/media?parent=3522"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/categories?post=3522"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.wjst.de\/blog\/wp-json\/wp\/v2\/tags?post=3522"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}