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Titolo:
THE ASN9 VARIANT OF LIPOPROTEIN-LIPASE IS ASSOCIATED WITH THE -93G PROMOTER MUTATION AND AN INCREASED RISK OF CORONARY-ARTERY DISEASE
Autore:
KASTELEIN JJP; GROENEMEYER BD; HALLMAN DM; HENDERSON H; REYMER PWA; GAGNE SE; JANSEN H; SEIDELL JC; KROMHOUT D; JUKEMA JW; BRUSCHKE AVG; BOERWINKLE E; HAYDEN MR;
Indirizzi:
UNIV BRITISH COLUMBIA,DEPT MED GENET,416-2125 EAST MALL,NCE BLDG VANCOUVER BC V6T 1Z4 CANADA UNIV AMSTERDAM,ACAD MED CTR NL-1105 AZ AMSTERDAM NETHERLANDS UNIV TEXAS,SCH PUBL HLTH,HOUSTON HLTH SCI CTR,CTR HUMAN GENET HOUSTONTX 00000 NATL INST PUBL HLTH & ENVIRONM PROTECT,DEPT CHRON DIS & ENVIRONM EPIDEMIOL NL-3720 BA BILTHOVEN NETHERLANDS LEIDEN UNIV,DEPT CARDIOL LEIDEN NETHERLANDS UNIV CAPE TOWN,DEPT CHEM PATHOL ZA-7925 CAPE TOWN SOUTH AFRICA ERASMUS UNIV ROTTERDAM,DEPT BIOCHEM NL-3000 DR ROTTERDAM NETHERLANDS
Titolo Testata:
Clinical genetics
fascicolo: 1, volume: 53, anno: 1998,
pagine: 27 - 33
SICI:
0009-9163(1998)53:1<27:TAVOLI>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL COMBINED HYPERLIPIDEMIA; LPL GENE; PLASMA-LIPOPROTEINS; CHOLESTEROL LEVELS; TRIGLYCERIDE-RICH; SERUM-CHOLESTEROL; PROGRESSION; DEFICIENCY; MEN; ANGIOGRAPHY;
Keywords:
CORONARY ARTERY DISEASE; DYSLIPIDEMIA; LIPOPROTEIN LIPASE; MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
32
Recensione:
Indirizzi per estratti:
Citazione:
J.J.P. Kastelein et al., "THE ASN9 VARIANT OF LIPOPROTEIN-LIPASE IS ASSOCIATED WITH THE -93G PROMOTER MUTATION AND AN INCREASED RISK OF CORONARY-ARTERY DISEASE", Clinical genetics, 53(1), 1998, pp. 27-33

Abstract

Two mutations in the lipoprotein lipase (LPL) gene, a T to G transition at position -93 of the proximal promoter region and an Asp9Asn substitution in exon 2, were examined in 762 Dutch males with angiographically-diagnosed coronary artery disease (CAD) and 296 healthy normolipidemic Dutch males. The two mutations exhibited strong linkage disequilibrium (D' = 0.975). A significantly higher proportion of cases (4.86%) than controls (1.37%) carried the -93G/Asn9 allele (p = 0.008). In the combined sample of cases and controls, adjusted mean plasma total cholesterol (TC) levels were significantly higher in -93G/Asn9 carriers(6.20 +/- 0.13 mmol/l) than in non-carriers (5.93 +/- 0.03 mmol/l; p = 0.048), while mean high-density lipoprotein cholesterol (HDL-C) levels were lower in carriers (0.88 +/- 0.03 mmol/l) than in non-carriers (0.98 +/- 0.01 mmol/l; p = 0.002). There was a trend towards higher triglyceride (TG) levels in carriers (1.96 +/- 0.14 mmol/l) compared with non-carriers (1.73 +/- 0.03 mmol/l) (p = 0.08). Addition ally, carrier frequencies in tertiles of TC, HDL-C, TG, and LPL activity, suggested an association of the -93G/Asn9 variant with higher TC and TG levels, and with lower HDL-C and LPL activity levels. Logistic regression revealed a significant odds ratio (OR) for the combined -93G/Asn9 genotype in CAD cases relative to controls (OR: 5.36; 95% CI: 1.57-18.24), with age, body mass index (BMI), smoking, and plasma total-and HDL-cholesterol levels included in the model. In conclusion, we show that theLPL Asp9Asn mutation is in non-random association with a T -->G substitution at position -93 of the proximal promoter region and that the combined -93G/Asn9 genotype predisposes to decreased HDL-C levels and an increased risk of CAD.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/03/20 alle ore 22:47:02