LINKAGE DISEQUILIBRIUM BETWEEN CYP2C SINGLE NUCLEOTIDE POLYMORPHISMS IN A HEALTHY SCANDINAVIAN POPULATION

Rasmus Steen Pedersen; Mette Marie Hougaard Christensen; Kim Brøsen

LINKAGE DISEQUILIBRIUM BETWEEN CYP2C SINGLE NUCLEOTIDE POLYMORPHISMS IN A HEALTHY SCANDINAVIAN POPULATION

Rasmus Steen Pedersen, Mette Marie Hougaard Christensen, Kim Brøsen

Research output: Contribution to conference without publisher/journal › Poster › Research › peer-review

Abstract

The human cytochrome P450 2C subfamily consist of the important drug metabolizing enzymes CYP2C8, CYP2C9 and CYP2C19 encoded from genes with genetic polymorphisms affecting drug metabolism. 396 healthy Scandinavian volunteers were genotyped for the pharmacological important CYP2C allelic variants: CYP2C8*2, CYP2C8*3, CYP2C8*4, CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*17. Genotype- and allele frequencies were calculated and linkage disequilibrium parameters were determined and CYP2C haplo- and diplotypes were inferred.
CYP2C19*17 was in linkage disequilibrium with the six other tested polymorphisms. Ten CYP2C haplotypes were inferred of which the CYP2C wildtype was most frequent (47%). The second most frequent haplotype (18%) is composed by CYP2C19*17 and CYP2C8 and CYP2C9 wildtype alleles. Four rare CYP2C8*2 allele was fund which was all inferred in haplotype with CYP2C19*17. CYP2C19*17 is a frequent allelic variant in linkage disequilibrium with pharmacological important CYP2C8 and CYP2C9 alleles.

Original language	English
Publication date	Jan 2012
Number of pages	1
Publication status	Published - Jan 2012

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title = "LINKAGE DISEQUILIBRIUM BETWEEN CYP2C SINGLE NUCLEOTIDE POLYMORPHISMS IN A HEALTHY SCANDINAVIAN POPULATION",

abstract = "The human cytochrome P450 2C subfamily consist of the important drug metabolizing enzymes CYP2C8, CYP2C9 and CYP2C19 encoded from genes with genetic polymorphisms affecting drug metabolism. 396 healthy Scandinavian volunteers were genotyped for the pharmacological important CYP2C allelic variants: CYP2C8*2, CYP2C8*3, CYP2C8*4, CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*17. Genotype- and allele frequencies were calculated and linkage disequilibrium parameters were determined and CYP2C haplo- and diplotypes were inferred. CYP2C19*17 was in linkage disequilibrium with the six other tested polymorphisms. Ten CYP2C haplotypes were inferred of which the CYP2C wildtype was most frequent (47%). The second most frequent haplotype (18%) is composed by CYP2C19*17 and CYP2C8 and CYP2C9 wildtype alleles. Four rare CYP2C8*2 allele was fund which was all inferred in haplotype with CYP2C19*17. CYP2C19*17 is a frequent allelic variant in linkage disequilibrium with pharmacological important CYP2C8 and CYP2C9 alleles.",

keywords = "CYP2C19*17 , linkage disequilibrium ",

author = "Pedersen, {Rasmus Steen} and {Hougaard Christensen}, {Mette Marie} and Kim Br{\o}sen",

year = "2012",

month = jan,

language = "English",

}

TY - CONF

T1 - LINKAGE DISEQUILIBRIUM BETWEEN CYP2C SINGLE NUCLEOTIDE POLYMORPHISMS IN A HEALTHY SCANDINAVIAN POPULATION

AU - Pedersen, Rasmus Steen

AU - Hougaard Christensen, Mette Marie

AU - Brøsen, Kim

PY - 2012/1

Y1 - 2012/1

N2 - The human cytochrome P450 2C subfamily consist of the important drug metabolizing enzymes CYP2C8, CYP2C9 and CYP2C19 encoded from genes with genetic polymorphisms affecting drug metabolism. 396 healthy Scandinavian volunteers were genotyped for the pharmacological important CYP2C allelic variants: CYP2C8*2, CYP2C8*3, CYP2C8*4, CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*17. Genotype- and allele frequencies were calculated and linkage disequilibrium parameters were determined and CYP2C haplo- and diplotypes were inferred. CYP2C19*17 was in linkage disequilibrium with the six other tested polymorphisms. Ten CYP2C haplotypes were inferred of which the CYP2C wildtype was most frequent (47%). The second most frequent haplotype (18%) is composed by CYP2C19*17 and CYP2C8 and CYP2C9 wildtype alleles. Four rare CYP2C8*2 allele was fund which was all inferred in haplotype with CYP2C19*17. CYP2C19*17 is a frequent allelic variant in linkage disequilibrium with pharmacological important CYP2C8 and CYP2C9 alleles.

AB - The human cytochrome P450 2C subfamily consist of the important drug metabolizing enzymes CYP2C8, CYP2C9 and CYP2C19 encoded from genes with genetic polymorphisms affecting drug metabolism. 396 healthy Scandinavian volunteers were genotyped for the pharmacological important CYP2C allelic variants: CYP2C8*2, CYP2C8*3, CYP2C8*4, CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*17. Genotype- and allele frequencies were calculated and linkage disequilibrium parameters were determined and CYP2C haplo- and diplotypes were inferred. CYP2C19*17 was in linkage disequilibrium with the six other tested polymorphisms. Ten CYP2C haplotypes were inferred of which the CYP2C wildtype was most frequent (47%). The second most frequent haplotype (18%) is composed by CYP2C19*17 and CYP2C8 and CYP2C9 wildtype alleles. Four rare CYP2C8*2 allele was fund which was all inferred in haplotype with CYP2C19*17. CYP2C19*17 is a frequent allelic variant in linkage disequilibrium with pharmacological important CYP2C8 and CYP2C9 alleles.

KW - CYP2C1917

KW - linkage disequilibrium

M3 - Poster

ER -