Dahlgren Andreas, Lundmark Per, Axelsson Tomas, Lind Lars, Syvänen Ann-Christine
Molecular Medicine, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
PLoS One. 2008 Mar 19;3(3):e1807. doi: 10.1371/journal.pone.0001807.
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.
人体身高是一种具有高遗传度的复杂遗传性状。我们在乌普萨拉成年男性纵向研究（ULSAM）中对17个与身高相关的候选基因进行了关联研究，该研究包含1153名出生于瑞典中部地区、年龄为70岁的老年男性。首先，我们在ULSAM队列中对一组均匀分布于候选基因的137个单核苷酸多态性（SNP）进行了基因分型。我们在6号染色体q25.1区域的雌激素受体基因（ESR1）中鉴定出4个SNP，它们与站立身高存在提示性关联信号（p<0.05）。随后，我们在第二个群体队列——乌普萨拉老年人血管前瞻性研究（PIVUS）队列中，对ESR1基因中与ULSAM相同的25个SNP进行了基因分型，该队列由来自与ULSAM相同地理区域的507名男性和509名70岁女性组成。位于ESR1基因内含子4中的一个SNP，rs2179922，在PIVUS队列的男性样本中显示出关联信号（p = 0.0056）。在ULSAM队列中，SNP rs2179922的G等位基因纯合子携带者平均比该SNP的其他两种基因型个体高0.90厘米，在PIVUS队列中高2.3厘米。在PIVUS队列的女性中未观察到关联。
