Sahu A, Swaroop S, Kant S, Banerjee M
Molecular and Human Genetics Laboratory, Department of Zoology, University of Lucknow, Lucknow, India.
Experimental and Public Health Laboratory, Department of Zoology, University of Lucknow, Lucknow, India.
Br J Biomed Sci. 2021 Oct;78(4):177-183. doi: 10.1080/09674845.2021.1905988. Epub 2021 Apr 30.
: Chronic obstructive pulmonary disease (COPD) and asthma are obstructive lung diseases which progress in severity with time. Environmental causes and genetic makeup of individuals play important roles in disease manifestation. The aim of present study was to search for diagnostic/prognostic biomarkers to differentiate COPD and asthma.: Seven and two single-nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-restriction fragment length polymorphism method. The association of genotypes, haplotypes and allelic combination of variants in different genes was analyzed in 194 COPD, 150 asthma patients and 220 controls.: The genotype frequencies of SNPs V4(C/G), T1(T/C), S2(G/C) of ADAM33 and AQP5 A/G (rs3736309) were associated with COPD and asthma (P=0.038 to P<0.001), while S1(A/G) and F+1(C/T) were associated with asthma (both P<0.001) and V1(G/T) with 20 COPD (P<0.001). The allele frequencies of V4(C/G) (both P<0.001), V1(G/T) (both P<0.05), S2(G/C) (both P<0.01) and S1(A/G) (both P<0.05) were associated with COPD and asthma, while F+1(C/T) was associated only with asthma (P=0.005). Haplotypes of ADAM33 'GGTGGGT' (P=0.027), 'CGTCGGC' (P<0.001) and AQP5 'GA' and 'AG' (both P<0.001) were significant only in COPD.: F+1(C/T) variant and allele combination 'GGTGGGTGA' may be specific markers for asthma, while AQP5 'AG' appeared as a haplotype associated only with COPD. These specific genetic biomarkers may be exploited to predict individual predisposition to COPD and asthma.
慢性阻塞性肺疾病（COPD）和哮喘是随着时间推移病情严重程度会进展的阻塞性肺疾病。环境因素和个体的基因构成在疾病表现中起着重要作用。本研究的目的是寻找用于区分COPD和哮喘的诊断/预后生物标志物。通过聚合酶链反应-限制性片段长度多态性方法对7个和2个单核苷酸多态性（SNP）进行基因分型。在194例COPD患者、150例哮喘患者和220例对照中分析了不同基因中变异的基因型、单倍型和等位基因组合的关联性。ADAM33的SNP V4（C/G）、T1（T/C）、S2（G/C）以及水通道蛋白5（AQP5）的A/G（rs3736309）的基因型频率与COPD和哮喘相关（P = 0.038至P < 0.001），而S1（A/G）和F + 1（C/T）与哮喘相关（均P < 0.001），V1（G/T）与20例COPD患者相关（P < 0.001）。V4（C/G）（均P < 0.001）、V1（G/T）（均P < 0.05）、S2（G/C）（均P < 0.01）和S1（A/G）（均P < 0.05）的等位基因频率与COPD和哮喘相关，而F + 1（C/T）仅与哮喘相关（P = 0.005）。ADAM33的单倍型“GGTGGGT”（P = 0.027）、“CGTCGGC”（P < 0.001）以及AQP5的“GA”和“AG”（均P < 0.001）仅在COPD中具有显著性。F + 1（C/T）变异和等位基因组合“GGTGGGTGA”可能是哮喘的特异性标志物，而AQP5的“AG”表现为仅与COPD相关的单倍型。这些特定的基因生物标志物可用于预测个体患COPD和哮喘的易感性。
