Suppr超能文献

印度人群中CC16基因内微卫星标记与哮喘的关联。

Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population.

作者信息

Sharma Shilpy, Ghosh Balaram

机构信息

Molecular Immunogenetics Laboratory, Institute of Genomics and Integrative Biology, Mall Road, New Delhi, 110007, India.

出版信息

J Hum Genet. 2004;49(12):677-683. doi: 10.1007/s10038-004-0206-8. Epub 2004 Nov 12.

Abstract

The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an anti-inflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the association of an SNP (A38G) and an intragenic repeat polymorphism in the CC16 gene with asthma and its associated traits, such as total serum IgE levels, in a case control as well as in a family based study design. A significant association was observed for the microsatellite repeat at the level of alleles and genotypes with asthma (P<0.05) in both the study designs. However, no association was observed for the A38G SNP with asthma. When haplotypes were constructed for these two loci and compared, the haplotype A_18 was found at higher frequency in patients (OR=1.59, 95%CI=1.08, 2.33, P=0.016). Also, in the family based design, a biased transmission was observed for haplotypes from parents to affected offspring (P=0.003). Individually, haplotype A_18 showed preferential transmission (82.6%) to affected offspring (P=0.001), thereby confirming the case-control results. In summary, this is the first study identifying the CC16 gene to be associated with asthma in the Indian population.

摘要

克拉拉细胞分泌蛋白(CC16)基因是研究哮喘遗传易感性的理想候选基因,因为它在气道中作为一种抗炎分子发挥作用,哮喘患者和健康对照者之间其水平存在差异,且其基因定位在11q13。我们在病例对照研究以及基于家系的研究设计中,调查了CC16基因中的一个单核苷酸多态性(A38G)和一个基因内重复多态性与哮喘及其相关性状(如血清总IgE水平)之间的关联。在两种研究设计中,均观察到微卫星重复在等位基因和基因型水平与哮喘存在显著关联(P<0.05)。然而,未观察到A38G单核苷酸多态性与哮喘有关联。当构建这两个位点的单倍型并进行比较时,发现单倍型A_18在患者中的频率更高(OR=1.59,95%CI=1.08,2.33,P=0.016)。此外,在基于家系的设计中,观察到单倍型从父母向受影响后代的传递存在偏差(P=0.003)。单独来看,单倍型A_18向受影响后代的传递具有偏好性(82.6%)(P=0.001),从而证实了病例对照研究的结果。总之,这是第一项确定CC16基因与印度人群哮喘相关的研究。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验