Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation.

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Abstract Text:

Suzan L Carmichael,Gary M Shaw,David M Iovannisci,Wei Yang,Richard H Finnell,Suzanne Cheng,Edward J Lammer,

This study explored risks of limb deficiency anomalies associated with 29 single nucleotide polymorphisms (SNPs) of genes involved in homocysteine metabolism, coagulation, cell-cell interaction, inflammatory response, and blood pressure regulation. The authors genotyped 96 cases and 437 non-malformed controls from a California population-based case-control study (1987-1988 birth cohort). Increased risk of limb anomaly was observed for three SNPs: heterozygosity for F5 Arg506Gln, with an odds ratio (OR) of 2.5 (95% confidence interval (CI), 1.0, 6.5); heterozygosity for TNF (-376)G > A, OR 2.1 (0.7, 6.2); and homozygosity for NPPA 2238T > C, OR 4.0 (1.1, 15.4). We hypothesized that effects of variant genotypes in the presence of maternal smoking, and/or in the absence of supplement intake, may exceed effects of any of these factors alone. In particular, findings for polymorphisms in SERPINE1, ITGA2, SELE, TNF, LTA, NPPA, GNB3, and ADRB2 supported the hypotheses, both for smoking and for supplement intake. These results suggest involvement of genetic variation of biologically relevant candidate genes, and gene-environment interaction, for some limb anomalies whose pathogenesis may be related to altered vascular tone or integrity.

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Publishing Authors By Initials

SL Carmichael,GM Shaw,DM Iovannisci,W Yang,RH Finnell,S Cheng,EJ Lammer,

For similar chemical actions and uses: pharmacologic actions: physiological effects of drugs: growth substances: micronutrients: vitamins research abstracts see: chemical actions and uses: pharmacologic actions: physiological effects of drugs: growth substances: micronutrients: vitamins research

PUBMED ID PMID:

MEDLINE DATE:

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: American journal of medical genetics. Part A

VOLUME: 140

Page Numbers: 2433-40

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 15

MONTH: Nov

YEAR: 2006

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Keywords Mesh Terms:

KEYWORDS: Vitamins

MESH TERMS: administration & dosage

Chemical & Substance for Abstract: Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation. Information

Substance Name: Homocysteine

Registry Number: 454-28-4

Grant and Affiliation Information for Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation.

AFFILIATION: California Birth Defects Monitoring Program, March of Dimes Birth Defects Foundation, Berkeley, California 94710, USA. sca@cbdmp.org

Country: United States

AGENCY: United States PHS

GRANT: U50/CCU913241

ACRONYM: HL

MEDLINETA: Am J Med Genet A

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation Related Publications

• Association between 49 infant gene polymorphisms and preterm delivery.
• Biological responses to the simulated Martian UV radiation of bacteriophages and isolated DNA.
• Elective endovascular stent-graft repair of atherosclerotic thoracic aortic aneurysms: clinical results and midterm follow-up.
• Endovascular repair of inflammatory aortic aneurysms: long-term results.
• Evaluation of the Cited2 gene and risk for spina bifida and congenital heart defects.
• Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects.
• Feasibility study of NeoMend, a percutaneous arterial closure device that uses a nonthrombogenic bioadhesive.
• Hepatic artery embolotherapy of hepatic metastases from carcinoid tumors: value of using a mixture of cyanoacrylate and ethiodized oil.
• Internal iliac artery embolization before endovascular repair of abdominal aortic aneurysms: frequency, efficacy, and clinical results.
• Maternal corticosteroid use and orofacial clefts.
• Maternal reproductive and demographic characteristics as risk factors for hypospadias.
• Maternal stressful life events and risks of birth defects.
• Mid- and long-term quality-of-life assessment in patients undergoing uterine fibroid embolization.
• Nutrient intakes in women and risks of anophthalmia and microphthalmia in their offspring.
• Palliative treatment of obstructing esophageal cancer with nitinol stents: value, safety, and long-term results.
• Peripheral CT angiography for interventional treatment planning.
• Risks of human limb deficiency anomalies associated with 29 SNPs of genes involved in homocysteine metabolism, coagulation, cell-cell interactions, inflammatory response, and blood pressure regulation.
• TASC II section F on revascularization in PAD.
• Three-dimensional color Doppler sonography in carotid artery stenosis.
• Treatment of malignant biliary obstruction with polyurethane-covered Wallstents.
• [Angioscopy--a new tool in percutaneous interventions]
• [Bleeding esophageal varices: endoscopic therapy (sclerosing, rubber band ligation and balloon tamponade]
• [Selective thrombolysis of peripheral arterial occlusions using Rt-PA]
• [Selective thrombolysis with recombinant tissue type plasminogen activator in combination with prostaglandin E1]