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. 2008 Mar 19;3(3):e1807.
doi: 10.1371/journal.pone.0001807.

Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts

Andreas Dahlgren  1 , Per Lundmark, Tomas Axelsson, Lars Lind, Ann-Christine Syvänen
Affiliations

Association of the estrogen receptor 1 (ESR1) gene with body height in adult males from two Swedish population cohorts

Andreas Dahlgren et al. PLoS One. .

Abstract

Human body height is a complex genetic trait with high heritability. We performed an association study of 17 candidate genes for height in the Uppsala Longitudinal Study of Adult Men (ULSAM) that consists of 1153 elderly men of age 70 born in the central region of Sweden. First we genotyped a panel of 137 single nucleotide polymorphism (SNPs) evenly distributed across the candidate genes in the ULSAM cohort. We identified 4 SNPs in the estrogen receptor gene (ESR1) on chromosome 6q25.1 with suggestive signals of association (p<0.05) with standing body height. This result was followed up by genotyping the same 25 SNPs in the ESR1 gene as in ULSAM in a second population cohort, the Prospective Investigation of the Vasculature in Uppsala Seniors (PIVUS) cohort that consist of 507 males and 509 females of age 70 from the same geographical region as ULSAM. One SNP, rs2179922 located in intron 4 of ESR1 showed and association signal (p = 0.0056) in the male samples from the PIVUS cohort. Homozygote carriers of the G-allele of the SNP rs2179922 were on average 0.90 cm taller than individuals with the two other genotypes at this SNP in the ULSAM cohort and 2.3 cm taller in the PIVUS cohort. No association was observed for the females in the PIVUS cohort.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Analysis of body height according to genotype of the SNP rs2179922 in the ULSAM and PIVUS cohorts.
The number of observations (n) is shown below each genotype group and the error bars indicate the standard deviation in cm in each group. Mean body height in the ULSAM cohort was 175.1±6.0 cm for GG genotype group and 174.2±6.8 cm for the AG+AA group. Mean body height in the PIVUS cohort was 172.2±6.3 cm for GG genotype group and 173.9±6.8 cm for the AG+AA group.
Figure 2
Figure 2. Schematic illustration of the estrogen receptor gene (ESR1) and its linkage disequilibrium structure.
The line in the top part of the figure illustrates the ESR1 gene with the exons marked with horizontal lines. The lower part of the figure shows the positions of the single nucleotide polymorphisms (SNPs) in ESR1 genotyped in the ULSAM cohort with pair-wise linkage disequilibrium (r2) values. The SNPs with nominal p-values<0.05 in the ULSAM cohort are marked with stars, and the SNP rs2179922 located in intron 4 of ESR1 with p = 0.0056 in the PIVUS cohort is marked by a large star.
See this image and copyright information in PMC

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