Sökning: WFRF:(Hofman S) > (2005-2009) > Common variants in ...
Fältnamn | Indikatorer | Metadata |
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000 | 04285naa a2200709 4500 | |
001 | oai:DiVA.org:uu-86906 | |
003 | SwePub | |
008 | 081209s2009 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-869062 URI |
024 | 7 | a https://doi.org/10.1093/hmg/ddn3502 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Johansson, Åsau Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)asjoh108 |
245 | 1 0 | a Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis |
264 | c 2008-10-24 | |
264 | 1 | b Oxford University Press (OUP),c 2009 |
338 | a print2 rdacarrier | |
520 | a Genes for height has gained interest for decades, but only recently have candidate genes started to be identified. We have performed linkage analysis and genome-wide association for height in approximately 4,000 individuals from five European populations. A total of 5 chromosomal regions showed suggestive linkage and in one of these regions, two SNPs (rs849140 and rs1635852) were associated with height (nominal p=7.0 x 10(-8) and p=9.6 x 10(-7) respectively). In total, five SNPs across the genome showed an association with height that reached the threshold of genome-wide significance (nominal p<1.6 x 10(-7)). The association with height was replicated for two SNPs (rs1635852 and rs849140) using three independent studies (N=31,077, N=1,268 and N=5,746) with overall meta p-values of 9.4x10(-10) and 5.3x10(-8). These SNPs are located in the JAZF1 gene, which has recently been associated with type II diabetes, prostate and endometrial cancer. JAZF1 is a transcriptional repressor of NR2C2, which results in low IGF1 serum concentrations, perinatal and early postnatal hypoglycaemia and growth retardation when knocked-out in mice. Both the linkage and association analyses independently identified the JAZF1 region affecting human height. We have demonstrated, through replication in additional independent populations, the consistency of the effect of the JAZF1 SNPs on height. Since this gene also has a key function in the metabolism of growth, JAZF1 represents one of the strongest candidates influencing human height so far identified. | |
653 | a MEDICINE | |
653 | a MEDICIN | |
700 | 1 | a Marroni, Fabio4 aut |
700 | 1 | a Hayward, Caroline4 aut |
700 | 1 | a Franklin, Christopher S.4 aut |
700 | 1 | a Kirichenko, Anatoly V.4 aut |
700 | 1 | a Jonasson, Ingeru Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)ingejona |
700 | 1 | a Hicks, Andrew A.4 aut |
700 | 1 | a Vitart, Veronique4 aut |
700 | 1 | a Isaacs, Aaron4 aut |
700 | 1 | a Axenovich, Tatiana4 aut |
700 | 1 | a Campbell, Susan4 aut |
700 | 1 | a Dunlop, Malcolm G.4 aut |
700 | 1 | a Floyd, Jamie4 aut |
700 | 1 | a Hastie, Nick4 aut |
700 | 1 | a Hofman, Albert4 aut |
700 | 1 | a Knott, Sara4 aut |
700 | 1 | a Kolcic, Ivana4 aut |
700 | 1 | a Pichler, Irene4 aut |
700 | 1 | a Polasek, Ozren4 aut |
700 | 1 | a Rivadeneira, Fernando4 aut |
700 | 1 | a Tenesa, Albert4 aut |
700 | 1 | a Uitterlinden, André G.4 aut |
700 | 1 | a Wild, Sarah H.4 aut |
700 | 1 | a Zorkoltseva, Irina V.4 aut |
700 | 1 | a Meitinger, Thomas4 aut |
700 | 1 | a Wilson, James F.4 aut |
700 | 1 | a Rudan, Igor4 aut |
700 | 1 | a Campbell, Harry4 aut |
700 | 1 | a Pattaro, Cristian4 aut |
700 | 1 | a Pramstaller, Peter4 aut |
700 | 1 | a Oostra, Ben A.4 aut |
700 | 1 | a Wright, Alan F.4 aut |
700 | 1 | a Duijn, Cornelia M. van4 aut |
700 | 1 | a Aulchenko, Yurii S.4 aut |
700 | 1 | a Gyllensten, Ulfu Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)ulfgyll |
710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
773 | 0 | t Human Molecular Geneticsd : Oxford University Press (OUP)g 18:2, s. 373-380q 18:2<373-380x 0964-6906x 1460-2083 |
856 | 4 | u https://academic.oup.com/hmg/article-pdf/18/2/373/17247107/ddn350.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-86906 |
856 | 4 8 | u https://doi.org/10.1093/hmg/ddn350 |
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