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Titolo:
New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia
Autore:
Groenendijk, M; Cantor, RM; De Bruin, TWA; Dallinga-Thie, GM;
Indirizzi:
Univ Utrecht, Med Ctr, Dept Internal Med, NL-3508 GA Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3508 GA 3508 GA Utrecht, Netherlands Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Acad Hosp, Dept Med, NL-6202 AZ Maastricht, Netherlands Acad Hosp Maastricht Netherlands NL-6202 AZ 2 AZ Maastricht, Netherlands Acad Hosp, Dept Endocrinol, NL-6202 AZ Maastricht, Netherlands Acad Hosp Maastricht Netherlands NL-6202 AZ 2 AZ Maastricht, Netherlands
Titolo Testata:
JOURNAL OF LIPID RESEARCH
fascicolo: 2, volume: 42, anno: 2001,
pagine: 188 - 194
SICI:
0022-2275(200102)42:2<188:NGVITA>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
AI-CIII-AIV; FRAGMENT-LENGTH-POLYMORPHISMS; INSULIN-RESPONSE ELEMENT; CORONARY HEART-DISEASE; APOLIPOPROTEIN-C-III; COMBINED HYPERLIPEMIA; TRANSGENIC MICE; PROMOTER REGION; HYPERTRIGLYCERIDEMIA; ASSOCIATION;
Keywords:
haplotypes; polymorphism; apolipoproteins;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Dallinga-Thie, GM Univ Utrecht, Med Ctr, Dept Internal Med, NL-3508 GA Utrecht, Netherlands Univ Utrecht Utrecht Netherlands NL-3508 GA etherlands
Citazione:
M. Groenendijk et al., "New genetic variants in the apoA-I and apoC-III genes and familial combined hyperlipidemia", J LIPID RES, 42(2), 2001, pp. 188-194

Abstract

Linkage and association between the apolipoprotein (apo) A-I/C-III/A-IV gene region on chromosome II and familial combined hyperlipidemia (FCHL) has been observed previously. Using sequence analysis two new allelic variants were identified, C-317-T in intron 2 of the apoA-I gene and C-1100-T in exon 3 of the apoC-III gene. These variants were studied in 30 FCHL probands, 159 hyperlipidemic relatives, 327 normolipidemic relatives, and 218 spouses. The allele frequencies of both variants were significantly different in probands and spouses (P < 0.002 and P < 0.001, respectively), with increasedfrequency of the minor alleles in the probands, The minor genotypes (TL) were associated with elevated plasma triglyceride and apoC-III. Both variants were in strong, although not complete, linkage disequilibrium with each other and with the MspI site in the promoter region of the apoA-I gene and the SstI site in the 3' untranslated region of exon 4 of the apoC-III gene. Haplotypes based on these four variants were constructed and the distributions of haplotype combinations were significantly different (P < 0.0001), Two distinct haplotypes predisposing to FCHL were found: 2-2-1-2 and 1-2-2-2 (MspI, C-317-T; SStI, C-1100-T). The haplotype combinations carrying one ofthese high risk alleles are associated with elevated lipid levels in probands and in spouses. While these effects can be attributed to the presence of the M2 and S2 minor alleles, these results suggest that the importance ofspecific allelic haplotypes may be greater than single genotypic effects.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 21:46:21