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Titolo:
Identification of human ccn2*(connective tissue growth factor) promoter polymorphisms
Autore:
Blom, IE; van Dijk, AJ; de Weger, RA; Tilanus, MGJ; Goldschmeding, R;
Indirizzi:
Univ Utrecht, Med Ctr, Dept Pathol, NL-3584 CX Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3584 CX 3584 CX Utrecht, Netherlands
Titolo Testata:
JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY
fascicolo: 3, volume: 54, anno: 2001,
pagine: 192 - 196
SICI:
1366-8714(200106)54:3<192:IOHCTG>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN LIVER; FACTOR-BETA; GENE-EXPRESSION; MESANGIAL CELLS; POTENT INDUCER; FIBROSIS; GLOMERULOSCLEROSIS; SCLERODERMA; FIBROBLASTS; ACTIVATION;
Keywords:
connective tissue growth factor; ccn2; promoter; polymorphism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Goldschmeding, R Univ Utrecht, Med Ctr, Dept Pathol, H04312,Heidelberglaan100, NL-3584 CX Utrecht, Netherlands Univ Utrecht H04312,Heidelberglaan 100 Utrecht Netherlands NL-3584 CX
Citazione:
I.E. Blom et al., "Identification of human ccn2*(connective tissue growth factor) promoter polymorphisms", J CL PATH-M, 54(3), 2001, pp. 192-196

Abstract

Background-Connective tissue growth factor (CCN2; CTGF) is a newly identified growth factor, which is involved in the regulation of wound repair and fibrosis. Because there is variation among individuals with respect to tissue response to injury, genetic factors might be involved in the final outcome of tissue repair or scarring. For example, polymorphisms in the promoterregion of genes, such as those encoding transforming growth factor beta1 (TGF-beta1), interleukin 10 (IL-10), and tumour necrosis factor alpha (TNF-alpha), influence transcriptional responses and are thought to contribute tothe dysregulation of these genes in pathological conditions. Aim-To investigate whether the promoter region of the ccn2 (ctgf) gene contains polymorphic sequences that might account for differential expression. Materials/Methods-Seventy seven human DNA samples were sequenced - 45 werefrom healthy controls and 32 were from patients with ischaemic heart disease (IHD) - using M13 tailed sequence specific ccn2 (ctgf) primers for amplification of a 600 bp fragment upstream of the transcription start site. Amplicons were bidirectionally sequenced with a dye primer M13 forward and reverse sequencing kit. Results-A C to G substitution was identified at position -132 in one of the patients with IHD. Moreover, in five of the 32 patients with IHD and in six of the 45 healthy controls, a G to C polymorphism was found at position -447. These substitutions at -132 and -447 are thought to Lie within predicted binding domains for the transcription factors Pbx-l and MZF1, respectively. In addition, insertions at position -43 (G), -47 (C), -71 (G) and a C to T substitution at position -198 were found in all DNA samples compared with the published ccn2 (ctgf) promoter sequence. These corrections do not involve sequences predicted to function as transcription factor binding sites. Conclusion-Sequence analysis of the ccn2 (ctgf) promoter of 77 human DNA samples has revealed corrections and polymorphic sites. The latter Lie within putative regulatory elements.

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Documento generato il 06/04/20 alle ore 21:43:50