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首页> 外文期刊>Asthma research and practice. >Single nucleotide polymorphisms in asthma candidate genes TBXA2R, ADAM33 FCER1B and ORMDL3 in Pakistani asthmatics a case control study
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Single nucleotide polymorphisms in asthma candidate genes TBXA2R, ADAM33 FCER1B and ORMDL3 in Pakistani asthmatics a case control study

机译：哮喘候选基因TBXA2R，ADAM33 FCAR1B和PAKISTANI哮喘患者的单核苷酸多态性哮喘案例对照研究

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Genetic variations in different loci and genes are important in asthma pathogenesis. There is much importance of various immunological pathways in the IgE secretion regulation. Alterations in any main part of these pathways can increase the risk of asthma development. Polymorphisms in these genetic markers can effect certain pathways which predict the asthma susceptibility. In the present study, SNPs directly or indirectly affecting the immunological process pathways are selected. This study was conducted to determine association of 16 SNPs in 10 candidate genes with asthma in Pakistani population in 333 asthmatic cases and 220 healthy controls. Genotyping was performed using the Sequenom Mass ARRAY iPLEX platform (14 SNPs) and TaqMan assay (2 SNPs). The minor allele at two of the SNPs showed association with protection from asthma, rs1131882 in TBXA2R gene (OR 0.73, 95% CI 0.52-1.01, P?=?0.05) and rs2280091 in the ADAM33 gene (OR 0.69, 95% CI 0.50-0.97, P?=?0.03). For FCER1B gene, rs2583476 the asthmatic male gender had higher TT genotype counts as compared to controls (OR?=?1.86, 95% CI?=?1.09-3.17, p?=?0.01). In rs11650680 of ORMDL3 gene the CT genotype is more prevalent in female asthma cases in comparison with female controls (OR?=?1.99, 95% CI?=?1.02-3.89, p?=?0.03). This data suggests that variations at TBXA2R and ADAM33 genes are found to be associated with asthma susceptibility in Pakistan. FCER1B gene is associated with male and ORMDL3 in female asthmatics. These genetic markers can be important source of asthma risk in Pakistani population.
机译：不同基因座和基因的遗传变异在哮喘发病机制中是重要的。 IgE分泌调控中各种免疫途径有很多。这些途径的任何主要部分的改变都会增加哮喘发育的风险。这些遗传标记中的多态性可以影响预测哮喘易感性的某些途径。在本研究中，选择直接或间接影响免疫过程途径的SNP。本研究进行了在333例哮喘病例和220例健康对照中确定在巴基斯坦人群中哮喘患有哮喘的10个候选基因的16个SNP的关联。使用典序质量阵列IPLEX平台（14 SNP）和Taqman测定（2 SNP）进行基因分型。两种SNP的次要等位基因显示在ADAM33基因中的TBXA2R基因（或0.73,95％CI 0.52-1.01，P？= 0.05）和RS2280091中的哮喘保护和0.73，0.69,95％CI 0.50 -0.97，p？= 0.03）。对于Fcar1b基因，与对照（或α= 1.86,95％ci =α1.09-3.17，p？= 0.01），哮喘的男性性别具有更高的TT基因型计数较高的TT基因型计数。在ormDl3基因的RS11650680中，与雌性对照相比，CT基因型在女性哮喘病例中更为普遍（或？=？1.99,95％CI？=？1.02-3.89，P？= 0.03）。该数据表明，发现TBXA2R和ADAM33基因的变化被发现与巴基斯坦的哮喘易感性相关。 Fcar1b基因与女性哮喘学中的男性和ormdl3相关。这些遗传标记可能是巴基斯坦人口哮喘风险的重要来源。

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