Razzaghi_2012_Front.Genet_3_89

Reference

Title : Population-Based Resequencing of LIPG and ZNF202 Genes in Subjects with Extreme HDL Levels - Razzaghi_2012_Front.Genet_3_89
Author(s) : Razzaghi H , Santorico SA , Kamboh MI
Ref : Front Genet , 3 :89 , 2012
Abstract :

Endothelial lipase (LIPG) and zinc finger protein 202 (ZNF202) are two pivotal genes in high density lipoprotein (HDL metabolism). We sought to determine their genetic contribution to variation in HDL-cholesterol levels by comprehensive resequencing of both genes in 235 individuals with high or low HDL-C levels. The selected subjects were 141 Whites (High HDL Group: n = 68, [Formula: see text] Low HDL Group: n = 73, [Formula: see text]) and 94 Hispanics (High HDL Group: n = 46, [Formula: see text] Low HDL Group: n = 48, [Formula: see text]). We identified a total of 185 and 122 sequence variants in LIPG and ZNF202, respectively. We found only two missense variants in LIPG (T111I and N396S) and two in ZNF202 (A154V and K259E). In both genes, there were several variants unique to either the low or high HDL group. For LIPG, the proportion of unique variants differed between the high and low HDL groups in both Whites (p = 0.022) and Hispanics (p = 0.017), but for ZNF202 this difference was observed only in Hispanics (p = 0.021). We also identified a common haplotype in ZNF202 among Whites that was significantly associated with the high HDL group (p = 0.013). These findings provide insights into the genetics of LIPG and ZNF202, and suggest that sequence variants occurring with high frequency in non-exonic regions may play a prominent role in modulating HDL-C levels in the general population.

PubMedSearch : Razzaghi_2012_Front.Genet_3_89
PubMedID: 22723803
Gene_locus related to this paper: human-LIPG

Related information

Mutation T111I_human-LIPG
Gene_locus human-LIPG

Citations formats

Razzaghi H, Santorico SA, Kamboh MI (2012)
Population-Based Resequencing of LIPG and ZNF202 Genes in Subjects with Extreme HDL Levels
Front Genet 3 :89

Razzaghi H, Santorico SA, Kamboh MI (2012)
Front Genet 3 :89