Abstract:
:A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 controls were included in the study. VIP gene variants were screened by direct sequencing, and VIP serum level was determined by enzyme-linked immunosorbent assay. Clinical and hemodynamic data of all patients were also obtained. The variant g.8129T-->C in exon 7 was found to be the only variant in the coding region of VIP gene with a significantly higher frequency in patients (40.7%) than in control samples (15.2%). Moreover, there was marked difference in VIP serum level and hemodynamic data between IPAH patients with and without the variant. The variant g.8129T-->C in exon 7 of VIP gene was correlated with the clinical phenotype of lower VIP serum level, higher mean pulmonary artery pressure and pulmonary vascular resistance in patients with IPAH comparing to those in patients without this variant. The VIP gene variant g.8129T-->C may be one of the risk factors in the pathogenesis of IPAH.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Zhang Y,Zhang JQ,Liu ZH,Xiong CM,Ni XH,Hui RT,He JG,Pu JLdoi
10.1111/j.1399-0004.2009.01196.xsubject
Has Abstractpub_date
2009-06-01 00:00:00pages
544-9issue
6eissn
0009-9163issn
1399-0004pii
CGE1196journal_volume
75pub_type
杂志文章abstract::A third case of an interstitial deletion of the long arm of chromosome 6 with clinical features mimicking Prader-Willi syndrome (PWS) is presented. Although preliminary clinical evaluation in each case suggested PWS, further review revealed that the features in all three cases are not completely compatible with the ch...
journal_title:Clinical genetics
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pub_type: 临床试验,杂志文章
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更新日期:2002-01-01 00:00:00
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