| Endothelial nitric oxide synthase polymorphisms associated with abnormal nitric oxide production are not over-represented in children with Down syndrome. | |
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MedLine Citation:
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PMID: 18377542 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: Down syndrome patients are at increased risk for developing pulmonary hypertension (PHTN). Nitric oxide (NO) is an important factor for pulmonary vasoreactivity. Various endothelial nitric oxide synthase (eNOS) polymorphisms have been shown to affect NO. The goal of this study was to determine whether there was a difference in prevalence of eNOS polymorphisms between Down syndrome patients vs. non-Down syndrome patients. METHODS: Down syndrome patients were recruited as well as non-Down syndrome patients. Gene polymorphisms for eNOS-3 (GG, GT, TT), eNOS-4 (bb, ba, aa), and eNOS-P (TT, TC, CC) were determined. Three forms of the 3 genes were compared in cross-tabulation tables with Down syndrome patients vs. non-Down syndrome patients and Down syndrome patients with heart defects vs. those without defects. Association was tested with chi-square and significance was set at P < or = .05. RESULTS: Fifty-one Down syndrome patients and 411 controls were studied. Twenty-one Down syndrome patients had heart defects and 6 of these patients had documented PHTN. There was no difference in gender between Down syndrome patients (males 56.9%) and controls (males 50.4%), P = .38. Prevalence of eNOS polymorphisms between Down syndrome patients and controls was not different for the genes (eNOS-3, P = .94; eNOS-4, P = .40; eNOS-P, P = .18). There was no difference in gene polymorphisms between Down syndrome patients with heart defects vs. those without defects (eNOS-3, P = .19; eNOS-4, P = .29; eNOS-P, P = .99). CONCLUSION: Prevalence of various eNOS polymorphisms between Down syndrome patients and controls was not different. Other polymorphisms that are associated with PHTN should be studied to determine whether they may be the cause of the increased risk of PHTN in Down syndrome patients. |
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Authors:
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Clifford L Cua; Glen Cooke; Mackenzie Taylor; John Hayes; Laurie Waldon; Patricia Lipowski; Beth Kossman; Patricia L Nash |
Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Congenital heart disease Volume: 1 ISSN: 1747-0803 ISO Abbreviation: - Publication Date: 2006 Jul |
Date Detail:
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Created Date: 2008-04-01 Completed Date: 2008-04-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101256510 Medline TA: Congenit Heart Dis Country: United States |
Other Details:
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Languages: eng Pagination: 169-74 Citation Subset: IM |
Affiliation:
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Columbus Children's Hospital, Columbus, Ohio 43205-2696, USA. clcua@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Down Syndrome / complications*, genetics* Female Gene Frequency* Genetic Predisposition to Disease / epidemiology Heart Defects, Congenital / complications, genetics Humans Hypertension, Pulmonary / complications*, genetics* Male Nitric Oxide / biosynthesis Nitric Oxide Synthase Type III / genetics* Polymorphism, Genetic* Prevalence |
| Chemical | |
Reg. No./Substance:
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10102-43-9/Nitric Oxide; EC 1.14.13.39/Nitric Oxide Synthase Type III |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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