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Titolo:
Two polymorphisms in the apo A-IV gene and familial combined hyperlipidemia
Autore:
Groenendijk, M; De Bruin, TWA; Dallinga-Thie, GM;
Indirizzi:
Univ Med Ctr Utrecht, Dept Internal Med, NL-3508 GA Utrecht, Netherlands Univ Med Ctr Utrecht Utrecht Netherlands NL-3508 GA Utrecht, Netherlands Acad Hosp Maastricht, Dept Med, Maastricht, Netherlands Acad Hosp Maastricht Maastricht Netherlands ed, Maastricht, Netherlands Acad Hosp Maastricht, Dept Endocrinol, Maastricht, Netherlands Acad Hosp Maastricht Maastricht Netherlands ol, Maastricht, Netherlands
Titolo Testata:
ATHEROSCLEROSIS
fascicolo: 2, volume: 158, anno: 2001,
pagine: 369 - 376
SICI:
0021-9150(200110)158:2<369:TPITAA>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
FRAGMENT-LENGTH-POLYMORPHISMS; INSULIN-RESPONSE ELEMENT; CORONARY HEART-DISEASE; APOLIPOPROTEIN-C-III; CHOLESTEROL EFFLUX; DNA POLYMORPHISMS; HUMAN-PLASMA; HYPERTRIGLYCERIDEMIA; LIPOPROTEIN; ASSOCIATION;
Keywords:
familial combined hyperlipidemia; apolipoprotein AIV; haplotypes; polymorphisms;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Dallinga-Thie, GM Univ Med Ctr Utrecht, Dept Internal Med, G02-228,POB 85500, NL-3508 GA Utrecht, Netherlands Univ Med Ctr Utrecht G02-228,POB 85500 Utrecht Netherlands NL-3508 GA
Citazione:
M. Groenendijk et al., "Two polymorphisms in the apo A-IV gene and familial combined hyperlipidemia", ATHEROSCLER, 158(2), 2001, pp. 369-376

Abstract

Linkage and association of the apo AI-CIII-IV gene region to familial combined hyperlipidemia (FCHL) was reported previously, based on the presence of genetic variants in the apo CIII and apo AI gene. No data were available yet on the contribution of the apo A-IV locus. Two DNA variants in exon 3 of the apo A-IV gene, A (Thr)(347)T (Ser) and [CTGT](3-4) were characterizedby sequencing the coding region of the apo A-IV gene and were analyzed in our Dutch FCHL cohort (30 probands, 159 affected relative, 317 unaffected relatives and 218 spouses). The genotype frequency of the A(347)T variant was different in probands and spouses. In probands no 2/2 carriers were found, resulting in a significant decreased frequency of the 2-allele (P < 0.05). This was suggestive for a protective role of the presence of the serine (T) allele on the prevalence of FCHL. No difference in frequency distribution was found for the [CTGT](3-4) variant between the groups. Homozygous 4/4 carriers in spouses had a more favorable lipid profile (LDL-cholesterol andapo B, P < 0.05). The absence of linkage disequilibrium of the A(347)T with other markers in the gene cluster, and the absence of linkage disequilibrium with [CTGT]3-4 marker and the MspI-AI marker in the apo A-I promoter showed that these two apo A-IV variants reside on different haplotypes from the apo A-I and apo C-III markers. This was illustrated by extensive haplotype analysis. The present data on the contribution of DNA variants in the apo A-IV gene support our previous observations that the apo AI-CIII-AIV genecluster has a complex genetic contribution to FCHL both by conferring susceptibility and protection. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 18:29:35