Department of Biological Sciences, National University of Singapore, Singapore.
BMC Med Genet. 2011 Mar 16;12:39. doi: 10.1186/1471-2350-12-39.
Uteroglobin-Related Protein 1 (UGRP1) is a secretoglobulin protein which has been suggested to play a role in lung inflammation and allergic diseases. UGRP1 has also been shown to be an important pneumoprotein, with diagnostic potential as a biomarker of lung damage. Previous genetic studies evaluating the association between variations on UGRP1 and allergic phenotypes have yielded mixed results. The aim of this present study was to identify genetic polymorphisms in UGRP1 and investigate if they were associated with asthma and allergic rhinitis in the Singapore Chinese population.
Resequencing of the UGRP1 gene was conducted on 40 randomly selected individuals from Singapore of ethnic Chinese origin. The polymorphisms identified were then tagged and genotyped in a population of 1893 Singapore Chinese individuals. Genetic associations were evaluated in this population comparing 795 individuals with allergic rhinitis, 718 with asthma (of which 337 had both asthma and allergic rhinitis) and 717 healthy controls with no history of allergy or allergic diseases.
By resequencing the UGRP1 gene within our population, we identified 11 novel and 16 known single nucleotide polymorphisms (SNPs). TagSNPs were then genotyped, revealing a significant association between rs7726552 and allergic rhinitis (Odds Ratio: 0.81, 95% Confidence Interval: 0.66-0.98, P = 0.039). This association remained statistically significant when it was analyzed genotypically or when stratified according to haplotypes. When variations on UGRP1 were evaluated against asthma, no association was observed.
This study documents the association between polymorphisms in UGRP1 and allergic rhinitis, suggesting a potential role in its pathogenesis.
尿生殖腺蛋白相关蛋白 1(UGRP1)是一种分泌球蛋白蛋白,据推测其在肺部炎症和过敏性疾病中发挥作用。UGRP1 也是一种重要的肺蛋白,具有作为肺损伤生物标志物的潜在诊断价值。以前评估 UGRP1 变异与过敏表型之间关联的遗传研究结果不一。本研究旨在鉴定 UGRP1 中的遗传多态性,并研究其是否与新加坡华人人群中的哮喘和过敏性鼻炎相关。
对 40 名来自新加坡的华裔个体的 UGRP1 基因进行重测序。然后,对 1893 名新加坡华人个体进行了鉴定出的多态性标记和基因分型。在该人群中,通过比较 795 名过敏性鼻炎患者、718 名哮喘患者(其中 337 名同时患有哮喘和过敏性鼻炎)和 717 名无过敏或过敏病史的健康对照者,评估了遗传相关性。
通过对我们人群中的 UGRP1 基因进行重测序,我们发现了 11 个新的和 16 个已知的单核苷酸多态性(SNP)。然后对标记 SNP 进行基因分型,发现 rs7726552 与过敏性鼻炎显著相关(优势比:0.81,95%置信区间:0.66-0.98,P=0.039)。当根据基因型或根据单倍型进行分析时,这种关联仍然具有统计学意义。当评估 UGRP1 的变异与哮喘时,未观察到关联。
本研究记录了 UGRP1 多态性与过敏性鼻炎之间的关联,提示其在发病机制中可能具有潜在作用。