Submitted on October 30, 2007
Revised on April 25, 2008
Accepted on April 30, 2008
Estrogen receptor 1 (ESR1) polymorphism is associated with plasma lipid and apolipoprotein levels in caucasians of the Rochester family heart study
Kathy L. E. Klos, Eric Boerwinkle, Robert E. Ferrell, Stephen T. Turner, and Alanna C. Morrison
Health Science Center at Houston, University of Texas, School of Public Health, Houston, TX 77225
Corresponding Author: kklos{at}sph.uth.tmc.edu
We evaluated six Estrogen Receptor 1 (ESR1) polymorphisms for association with ten plasma lipid and apolipoprotein traits in 1,847 individuals (941 Females and 906 Males) in the multi-generation Rochester Family Heart Study using a generalized estimating equation approach. Apolipoprotein (apo) A-I, apoA-II, and HDL-cholesterol were associated with exon 4 rs1801132 (Pro325Pro) genotype (p=0.0044, p=0.0048 and p=0.0035, respectively). Positive correlation between levels of apoA-I, apoA-II and HDL-C and the number of G alleles was observed in females (p=0.0120, p=0.0032 and p=0.0030), but not males (p>0.05). Because few studies have evaluated the effect of ESR1 gene polymorphism on lipid traits in children, we also stratified our sample at the age of 15 years. There was evidence of association between intron 1 SNPs rs9322331 and rs9340799 and apoC-II, and triglycerides (TG) in youths 15 years and younger. In youths, evidence of association between rs9322331 and rs9340799, and apoC-II was stronger in males (p=0.0036 and p=0.0124) than females (p>0.05), while evidence of association with TG was stronger in females (p=0.0030 and p=0.0024) than males (p>0.05). This suggests that ESR1 variation plays an age- and gender-dependent role in determining plasma lipid and apolipoprotein levels.
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