About: The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10

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About: The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10 Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The (TTTTA)(n) repetition from the promoter of the apo(a) gene is supposed to be a relevant candidate for the additional regulation of lipoprotein (a) levels. We scanned the kringle IV types 8-10 of the apo(a) gene for candidate variants that could be at least partly responsible for the (TTTTA)(n) repetition effect. The selected sample group comprises of 160 unrelated individuals designed to cover a representative amount even of the rare TTTTA(n) allele carriers. The high resolution melting method was used to scan exons of selected kringles for alteration. Linkage disequilibrium and haplotype frequencies were assigned using Arlequine software. Overall eight different sequence variants were detected from which all but two were rare (c.66A-->C; c.74C-->T; c.133G-->A; c.154C-->T;+1G-->A 5'splice site; c.16G-->T; c.61G-->A; c.63C-->T). However the TTTTA(n) repetition was in allelic association with all five tested polymorphic loci (P<0.0023). The (TTTTA)(n) repetition from the promoter of the apo(a) gene is supposed to be a relevant candidate for the additional regulation of lipoprotein (a) levels. We scanned the kringle IV types 8-10 of the apo(a) gene for candidate variants that could be at least partly responsible for the (TTTTA)(n) repetition effect. The selected sample group comprises of 160 unrelated individuals designed to cover a representative amount even of the rare TTTTA(n) allele carriers. The high resolution melting method was used to scan exons of selected kringles for alteration. Linkage disequilibrium and haplotype frequencies were assigned using Arlequine software. Overall eight different sequence variants were detected from which all but two were rare (c.66A-->C; c.74C-->T; c.133G-->A; c.154C-->T;+1G-->A 5'splice site; c.16G-->T; c.61G-->A; c.63C-->T). However the TTTTA(n) repetition was in allelic association with all five tested polymorphic loci (P<0.0023). (en)
Title	The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10 The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10 (en)
skos:prefLabel	The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10 The apo(a) gene (TTTTA)(n) promoter polymorphism and its association with variability in exons of the kringle IV types 8 to 10 (en)
skos:notation	RIV/00216208:11110/09:4884!RIV10-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9411), Z(MSM0021620807)
http://linked.open...iv/cisloPeriodika	1-2
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Češka, Richard Hirschfeldová, Kateřina
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	303705
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/09:4884
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Apolipoprotein(a); Haplotypes; Lipoprotein(a); Polymorphism; Kringles; pentanucleotide repeat polymorphism; coronary-heart-disease; apolipoprotein(a) gene; lipoprotein(a) concentrations; sequence polymorphisms; linkage disequilibrium; plasma-concentrations; lp(a); caucasians; size (en)
http://linked.open.../riv/klicoveSlovo	Lipoprotein(a) Apolipoprotein(a) Kringles apolipoprotein(a) gene caucasians lipoprotein(a) concentrations lp(a) pentanucleotide repeat polymorphism plasma-concentrations sequence polymorphisms Polymorphism size linkage disequilibrium coronary-heart-disease Haplotypes
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[3CBC0F9D3392]
http://linked.open...i/riv/nazevZdroje	Clinica chimica acta
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...vavai/riv/projekt	Genetic determination of the hypolipidemic treatment efficacy
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	405
http://linked.open...iv/tvurceVysledku	Hirschfeldová, Kateřina Češka, Richard Lipovska, D. Skrha, P.
http://linked.open...ain/vavai/riv/wos	000267448300007
http://linked.open...n/vavai/riv/zamer	Metabolické, endokrinní a genetické aspekty prevence, diagnostiky a terapie kardiovaskulárních, cerebrovaskulárních a renovaskulárních onemocnění
issn	0009-8981
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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