The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III hyperlipidemia.
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The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III hyperlipidemia. / Evans, David; Beil, Frank Ulrich.
In: BMC MED GENET, Vol. 8, 2007, p. 56.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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T1 - The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III hyperlipidemia.
AU - Evans, David
AU - Beil, Frank Ulrich
PY - 2007
Y1 - 2007
N2 - BACKGROUND: Type III hyperlipidemia (Type III HLP) is associated with homozygosity for the epsilon2 allele of the APOE gene. However only about 10% of epsilon2 homozygotes develop Type III HLP and it is assumed that additional genetic and/or environmental factors are required for its development. Common variants in the LPL gene have been proposed as likely genetic co-factors. METHODS: The frequency of the LPL SNPs D9N, N291S and S447X in 100 patients with hyperlipidemia and APOE2/2 genotype has been determined and compared to that in healthy blood donors and patients with hyperlipidemia. RESULTS: There were no statistically significant difference in the frequencies of the variants between APOE2/2 patients and controls. CONCLUSION: It is unlikely that the D9N, N291S or S447X variants in the LPL gene play an important role in the development of Type III HLP.
AB - BACKGROUND: Type III hyperlipidemia (Type III HLP) is associated with homozygosity for the epsilon2 allele of the APOE gene. However only about 10% of epsilon2 homozygotes develop Type III HLP and it is assumed that additional genetic and/or environmental factors are required for its development. Common variants in the LPL gene have been proposed as likely genetic co-factors. METHODS: The frequency of the LPL SNPs D9N, N291S and S447X in 100 patients with hyperlipidemia and APOE2/2 genotype has been determined and compared to that in healthy blood donors and patients with hyperlipidemia. RESULTS: There were no statistically significant difference in the frequencies of the variants between APOE2/2 patients and controls. CONCLUSION: It is unlikely that the D9N, N291S or S447X variants in the LPL gene play an important role in the development of Type III HLP.
U2 - 10.1186/1471-2350-8-56
DO - 10.1186/1471-2350-8-56
M3 - SCORING: Zeitschriftenaufsatz
VL - 8
SP - 56
JO - BMC MED GENET
JF - BMC MED GENET
SN - 1471-2350
ER -