Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis

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Fältnamn	Indikatorer	Metadata
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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