Cai Xulong, Lin Mali, Cao Shan, Liu Yunguang, Lin Na
Youjiang Medical University for Nationalities, Baise, China.
Department of Pediatrics, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise, China.
Ann Hum Genet. 2018 May;82(3):158-164. doi: 10.1111/ahg.12238. Epub 2017 Dec 28.
Asthma is a common, heterogeneous chronic respiratory disease characterized by chronic inflammation of the airway, airway hyperreactivity, and airway remodeling. The RAR-related orphan receptor A (RORA) gene has been identified for the pathogenesis of asthma. The purpose of this research was to investigate the relationship between RORA gene polymorphisms and asthma susceptibility in the Chinese Zhuang population. This was a case-control study including 231 children with asthma and 343 healthy controls. The RORA gene polymorphisms were measured by the polymerase chain reaction-ligase detection reaction genotyping assays and confirmed by sequencing. The distribution of the genotype frequencies of the RORA rs11071559 C>T was significantly different in the group of cases and the healthy children (P < 0.05). By haplotype analyses, the haplotype TT (rs7164773/rs11071559) was statistically significant between asthmatics and nonasthmatics, but the association was not significant after correction for multiple comparisons. Our results provided evidence that the RORA rs11071559C>T polymorphism was associated with an elevated susceptibility to pediatric asthma in the Chinese Zhuang population.
哮喘是一种常见的、异质性慢性呼吸道疾病，其特征为气道慢性炎症、气道高反应性和气道重塑。维甲酸相关孤儿受体A（RORA）基因已被确定与哮喘的发病机制有关。本研究的目的是探讨中国壮族人群中RORA基因多态性与哮喘易感性之间的关系。这是一项病例对照研究，包括231例哮喘儿童和343例健康对照。采用聚合酶链反应-连接酶检测反应基因分型法检测RORA基因多态性，并通过测序进行确认。RORA rs11071559 C>T基因型频率在病例组和健康儿童组中的分布存在显著差异（P<0.05）。通过单倍型分析，单倍型TT（rs7164773/rs11071559）在哮喘患者和非哮喘患者之间具有统计学意义，但在进行多重比较校正后，该关联无统计学意义。我们的结果表明，RORA rs11071559C>T多态性与中国壮族人群儿童哮喘易感性升高有关。
