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Titolo:
Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants
Autore:
Tanus-Santos, JE; Desai, M; Flockhart, DA;
Indirizzi:
Georgetown Univ, Med Ctr, Div Clin Pharmacol, Washington, DC 20007 USA Georgetown Univ Washington DC USA 20007 armacol, Washington, DC 20007 USA
Titolo Testata:
PHARMACOGENETICS
fascicolo: 8, volume: 11, anno: 2001,
pagine: 719 - 725
SICI:
0960-314X(200111)11:8<719:EOEOTD>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORONARY-ARTERY DISEASE; SYNTHASE GENE POLYMORPHISMS; MISSENSE GLU298ASP VARIANT; MYOCARDIAL-INFARCTION; 5'-FLANKING REGION; T-786->C MUTATION; RISK; ASSOCIATION; SPASM; AMERICANS;
Keywords:
endothelial nitric oxide synthase; genotype; interethnic differences; polymorphism;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Tanus-Santos, JE Georgetown Univ, Med Ctr, Div Clin Pharmacol, 3900 Reservoir Rd NW, Washington, DC 20007 USA Georgetown Univ 3900 Reservoir Rd NW Washington DC USA 20007
Citazione:
J.E. Tanus-Santos et al., "Effects of ethnicity on the distribution of clinically relevant endothelial nitric oxide variants", PHARMACOGEN, 11(8), 2001, pp. 719-725

Abstract

Polymorphisms in the endothelial nitric oxide synthase (eNOS) gene have been associated inconsistently with cardiovascular diseases. A maldistribution of eNOS variants among ethnic groups may explain interethnic differences in nitric oxide (NO)-mediated vasodilation and response to drugs. To test this possibility, we examined the distribution of genetic variants of three clinically relevant eNOS polymorphisms (T-786C in the promoter, the variable number of tandem repeats (VNTR) in intron 4, and the Glu298Asp variant inexon 7) in 305 ethnically well-characterized DNA samples (100 Caucasians, 100 African-Americans, and 105 Asians). We estimated the haplotype frequency, and evaluated associations between these variants. The Asp298 variant was more common in Caucasians (34.5%) than in African-Americans (15.5%) or Asians (8.6%)(P < 0.0001). The C-781 variant was also more common in Caucasians (42.0%) than in African-Americans (17.5%) or Asians (13.8%) (P < 0.0001). The 4a variant in intron 4 was more common in African-Americans (26.5%) than in Caucasians (16.0%) or Asians (12.9%) (P < 0.0001). The most common predicted haplotype in the three groups combined only wild-type variants. Asians had the highest frequency of this haplotype (77% in Asians v. 46% in the other groups). In Caucasians, the Asp298 and C(-786)variants were associated, and this haplotype was predicted to have a frequency of 24%. In African-Americans, the second most common haplotype included the variant 4a and wild-type variants; the Asp298 and 4a variants were associated negatively in this group. The C-786 and 4a variants were associated in Asians (P < 0.0001). The marked interethnic differences that we found in the distribution of eNOS variants, in the estimated haplotype frequency, and in the association between variants may help us to understand how the combination of these genetic variants may influence cardiovascular diseases. Pharmacogenetics 11:719-725 (C) 2001 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/01/20 alle ore 15:37:14