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WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels.

Abstract：

:Low serum HDL-cholesterol (HDL-C) is a major risk factor for coronary artery disease. We performed targeted genotyping of a 12.4 Mb linked region on 16q to test for association with low HDL-C by using a regional-tag SNP strategy. We identified one SNP, rs2548861, in the WW-domain-containing oxidoreductase (WWOX) gene with region-wide significance for low HDL-C in dyslipidemic families of Mexican and European descent and in low-HDL-C cases and controls of European descent (p = 6.9 x 10(-7)). We extended our investigation to the population level by using two independent unascertained population-based Finnish cohorts, the cross-sectional METSIM cohort of 4,463 males and the prospective Young Finns cohort of 2,265 subjects. The combined analysis provided p = 4 x 10(-4) to 2 x 10(-5). Importantly, in the prospective cohort, we observed a significant longitudinal association of rs2548861 with HDL-C levels obtained at four different time points over 21 years (p = 0.003), and the T risk allele explained 1.5% of the variance in HDL-C levels. The rs2548861 resides in a highly conserved region in intron 8 of WWOX. Results from our in vitro reporter assay and electrophoretic mobility-shift assay demonstrate that this region functions as a cis-regulatory element whose associated rs2548861 SNP has a specific allelic effect and that the region forms an allele-specific DNA-nuclear-factor complex. In conclusion, analyses of 9,798 subjects show significant association between HDL-C and a WWOX variant with an allele-specific cis-regulatory function.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Lee JC,Weissglas-Volkov D,Kyttälä M,Dastani Z,Cantor RM,Sobel EM,Plaisier CL,Engert JC,van Greevenbroek MM,Kane JP,Malloy MJ,Pullinger CR,Huertas-Vazquez A,Aguilar-Salinas CA,Tusie-Luna T,de Bruin TW,Aouizerat BE,van de

doi

10.1016/j.ajhg.2008.07.002

subject

Has Abstract

pub_date

2008-08-01 00:00:00

pages

180-92

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(08)00399-6

journal_volume

83

pub_type

杂志文章

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