TY - JOUR
T1 - Genetic biomarkers for risk prediction of chronic obstructive pulmonary disease (COPD) in smokers and non-smokers
AU - Sahu, Akancha
AU - Kumar, Saurabh
AU - Kant, Surya
AU - Mishra, Shambhavi
AU - Banerjee, Monisha
N1 - Funding Information:
This work was supported by the [University Grant Commission] under Major Research Project grant [42–564/2013(SR)]; [Higher Education, Government of Uttar Pradesh] under Centre of Excellence grant [1250/70–42013-46(43)/2010 T.C.II]; [Indian Council of Medical Research] Research Associate Fellowship to AS [2017–3983/CMB-BMS].AS and SK acknowledge ICMR, New Delhi for research fellowships. The research grants to Molecular and Human Genetics Lab from ICMR, Centre of Excellence program of Higher Education, Government of Uttar Pradesh are acknowledged. The authors are also grateful for the research infrastructure provided by DST-FIST and DST-PURSE.
Funding Information:
This work was supported by the [ University Grant Commission ] under Major Research Project grant [ 42–564/2013(SR) ]; [ Higher Education, Government of Uttar Pradesh ] under Centre of Excellence grant [ 1250/70–42013-46(43)/2010 T.C.II ]; [ Indian Council of Medical Research ] Research Associate Fellowship to AS [ 2017–3983/CMB-BMS ].
Publisher Copyright:
© 2023
PY - 2023/5
Y1 - 2023/5
N2 - Chronic Obstructive Pulmonary Disease (COPD) is a progressive disease and not fully reversible. It is the 3rd major cause of death worldwide and ranks 2nd in India. Although the primary etiopathogenic factor is chronic exposure to tobacco smoke, it has been observed that all smokers do not develop COPD and many non-smokers suffer from the disease. This difference in susceptibility can be attributed to individual genetic variations. Therefore, the present study was conducted to analyze the association of genetic variants in candidate genes with COPD susceptibility among smokers and non-smokers. A total of 500 subjects were enrolled in the study (250 each of controls and cases) after ethical approval and informed consent. Fifteen single nucleotide polymorphisms (SNPs) in eight genes viz.IL-1RN, IL-1B, IL-6, TNF-A, SOD2, CAT, ADAM33 and AQP5 were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR–RFLP). Data was analyzed using SPSS (ver 21.0) and association with smoking status was determined. Among 250 healthy controls enrolled, 119 were non-smokers and 131 were smokers. Out of 250 COPD cases, only 34 were non-smokers and rest 216 were smokers. The genotypic frequencies of IL-1RN intron2 86 bp VNTR (I,II), IL-1β -511 T/C, IL-6 -597A/G, TNF-α -308G/A, SOD2 + 47C/T, CAT − 21A/T and AQP5 promoter G/A were significantly associated with smoking. Among 07 ADAM33 SNPs, the genotype frequencies of V4exon22C/G and F + 1intron6C/T were significantly associated in smokers, while V1exon22G/T, S2exon19G/C, S1exon19A/G and Q1intron16A/G were associated with non-smokers. The genetic variants (SNPs) in smokers and non-smokers showing differential association with the risk of COPD can be identified as predictive biomarkers.
AB - Chronic Obstructive Pulmonary Disease (COPD) is a progressive disease and not fully reversible. It is the 3rd major cause of death worldwide and ranks 2nd in India. Although the primary etiopathogenic factor is chronic exposure to tobacco smoke, it has been observed that all smokers do not develop COPD and many non-smokers suffer from the disease. This difference in susceptibility can be attributed to individual genetic variations. Therefore, the present study was conducted to analyze the association of genetic variants in candidate genes with COPD susceptibility among smokers and non-smokers. A total of 500 subjects were enrolled in the study (250 each of controls and cases) after ethical approval and informed consent. Fifteen single nucleotide polymorphisms (SNPs) in eight genes viz.IL-1RN, IL-1B, IL-6, TNF-A, SOD2, CAT, ADAM33 and AQP5 were genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR–RFLP). Data was analyzed using SPSS (ver 21.0) and association with smoking status was determined. Among 250 healthy controls enrolled, 119 were non-smokers and 131 were smokers. Out of 250 COPD cases, only 34 were non-smokers and rest 216 were smokers. The genotypic frequencies of IL-1RN intron2 86 bp VNTR (I,II), IL-1β -511 T/C, IL-6 -597A/G, TNF-α -308G/A, SOD2 + 47C/T, CAT − 21A/T and AQP5 promoter G/A were significantly associated with smoking. Among 07 ADAM33 SNPs, the genotype frequencies of V4exon22C/G and F + 1intron6C/T were significantly associated in smokers, while V1exon22G/T, S2exon19G/C, S1exon19A/G and Q1intron16A/G were associated with non-smokers. The genetic variants (SNPs) in smokers and non-smokers showing differential association with the risk of COPD can be identified as predictive biomarkers.
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U2 - 10.1016/j.humgen.2023.201179
DO - 10.1016/j.humgen.2023.201179
M3 - Article
AN - SCOPUS:85153525431
SN - 2773-0441
VL - 36
JO - Human Gene
JF - Human Gene
M1 - 201179
ER -