Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
ETHNIC VARIATION AND IN-VIVO EFFECTS OF THE -93T-]G PROMOTER VARIANT IN THE LIPOPROTEIN-LIPASE GENE
Autore:
EHRENBORG E; CLEE SM; PIMSTONE SN; REYMER PWA; BENLIAN P; HOOGENDIJK CF; DAVIS HJ; BISSADA N; MIAO L; GAGNE SE; GREENBERG LJ; HENRY R; HENDERSON H; ORDOVAS JM; SCHAEFER EJ; KASTELEIN JJP; KOTZE MJ; HAYDEN MR;
Indirizzi:
UNIV BRITISH COLUMBIA,DEPT MED GENET,416-2125 E MALL,NCE BLDG VANCOUVER BC V6T 1Z4 CANADA UNIV BRITISH COLUMBIA,DEPT MED GENET VANCOUVER BC V6T 1Z4 CANADA UNIV AMSTERDAM,ACAD MED CTR,LIPID RES GRP NL-1105 AZ AMSTERDAM NETHERLANDS UNIV STELLENBOSCH,DIV HUMAN GENET ZA-7505 TYGERBERG SOUTH AFRICA UNIV CAPE TOWN,SCH MED,DEPT HUMAN GENET ZA-7925 CAPE TOWN SOUTH AFRICA RED CROSS CHILDRENS HOSP,DEPT CHEM PATHOL CAPE TOWN SOUTH AFRICA TUFTS UNIV,USDA,HUMAN NUTR RES CTR AGING,JM BOSTON MA 02111
Titolo Testata:
Arteriosclerosis, thrombosis, and vascular biology
fascicolo: 11, volume: 17, anno: 1997,
pagine: 2672 - 2678
SICI:
1079-5642(1997)17:11<2672:EVAIEO>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL COMBINED HYPERLIPIDEMIA; MYOCARDIAL-INFARCTION; LPL GENE; MUTATION; PLASMA; POPULATIONS; EXPRESSION; SEQUENCE; PATIENT; LINKAGE;
Keywords:
LIPOPROTEIN LIPASE; MUTATION; PROMOTER; LIPIDS; ETHNIC VARIATION;
Tipo documento:
Article
Natura:
Periodico
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
E. Ehrenborg et al., "ETHNIC VARIATION AND IN-VIVO EFFECTS OF THE -93T-]G PROMOTER VARIANT IN THE LIPOPROTEIN-LIPASE GENE", Arteriosclerosis, thrombosis, and vascular biology, 17(11), 1997, pp. 2672-2678

Abstract

Recently, a (t-->g) transition at nucleotide -93 in the lipoprotein lipase (LPL) gene promoter has been observed in Caucasians. Here, we have compared the frequency of the -93g carriers in three distinct populations (Caucasians, South African Blacks, and Chinese). The carrier frequency in the Caucasian population was 1.7% (4/232), which was in contrast to the South African Black population, which had a frequency forthis allele of 76.4% (123/161) of the individuals tested. This transition was not observed in the Chinese population under study. Near complete linkage disequilibrium between the -93g and the previously described D9N mutation was observed in the Caucasian population but not in South African Blacks. To further assess the ancestral origins of these DNA changes, DNA haplotyping using a CA repeal 5' to these substitutions was performed. The -93t allele was associated with only a few specific dinucleotide repeat sizes. In contrast, the -93g allele occurred on chromosomes with many different repeat lengths. The broad distribution of repeats on -93g carrying chromosomes, their high frequency in the South African Black population, and the conservation of the -93g allele among different species may suggest that the -93g allele is the ancestral allele on which a transition to t and the D9N mutations arose. The very high frequency of the -93g allele distinct from the N9 allele in a cohort of Black South Africans allowed us to specifically assess the phenotypic effects of the -93g allele on lipids. Individuals homozygous for the g allele at -93 showed mildly decreased triglycerides compared with individuals homozygous for the t allele (1.14+/-0.66 mmol/L versus 0.82+/-0.3; P=.04). Thus, the -93g allele in this cohort isassociated with low plasma triglyceride levels.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 09:12:46