Association study of estrogen receptor alpha gene polymorphisms with bone mass assessed by quantitative ultrasound in young adults

Abstract

Different genetic variants in estrogen receptor alpha (ESR1) have been shown to influence bone phenotypes including quantitative bone ultrasound in elderly. We aimed to investigate the role of ESR1 polymorphisms in bone mass assessed by calcaneal quantitative ultrasound (QUS) in a population of young adults. The study sample consisted of 466 healthy individuals of Caucasian ancestry (315 females and 152 males) aged 18 and 25 years (median age 20.39 ± 2.70). Six ESR1 polymorphisms (rs302033, rs2982552, rs2982575, rs2504063, rs2234693-PvuII and rs9340799-XbaI) were selected as genetic markers and genotyped. Bone mass in the right calcaneus was estimated with QUS. In the unadjusted analysis, rs2982575 polymorphism was significantly associated with quantitative ultrasound parameter in the whole sample (p = 0.014, β (95% CI) = -0.114 (-1.023, -0.115). However, after adjusting for multiple confounding factors, this association did not remain significant. For the rest of the selected polymorphisms in ESR1, no significant association was observed with calcaneal parameter. Linkage disequilibrium analysis identified a single LD block for the ESR1 gene including PvuII and XbaI SNPs (pair-wise r ² = 0.66). Our results revealed a lack of significant association between ESR1 polymorphisms and calcaneal quantitative ultrasound in a cohort of young adults suggesting that ESR1 gene do not play a major role in the acquisition of bone mass during early adulthood.

Keywords: ESR1; Polymorphisms; Quantitative ultrasound; Young adults.