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Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.

ABSTRACT: The development of chronic obstructive pulmonary disease, upon exposure to tobacco smoke, is the cumulative effect of defects in several genes. With the aim of understanding the genetic structure that is characteristic of our patient population, we selected forty two single nucleotide polymorphisms of twenty genes based on previous studies and genotyped a total of 382 samples, which included 236 patients and 146 controls using Sequenom MassARRAY system. Allele frequencies of rs2276109 (MMP12) and rs1800925 (IL13) differed significantly between patients and controls (p?=?0.013 and 0.044 respectively). Genotype analysis showed association of rs2276109 (MMP12) under additive and dominant models (p?=?0.017, p?=?0.012 respectively), rs1800925 (IL13) under additive model (p?=?0.047) and under recessive model, rs1695 (GSTP1; p?=?0.034), rs729631, rs975278, rs7583463 (SERPINE2; p?=?0.024, 0.024 and 0.012 respectively), rs2568494, rs10851906 (IREB2; p?=?0.026 and 0.041 respectively) and rs7671167 (FAM13A; p?=?0.029). The minor alleles of rs1695 (G), rs7671167 (T), rs729631 (G), rs975278 (A) and rs7583463 (A) showed significant negative association whereas those of rs2276109 (G), rs2568494 (A), rs10851906 (G) and rs1800469 (T; TGF-?) showed significant positive association with lung function under different genetic models. Haplotypes carrying A allele of rs2276109, G allele of rs1695 showed negative correlation with lung function. Haplotypes carrying major alleles of rs7671167 (C) of FAM13A and rs729631 (C), rs975278 (G), rs7583463 (C) of SERPINE2 had protective effect on lung function. Haplotypes of IREB2 carrying major alleles of rs2568494 (G), rs2656069 (A), rs10851906 (A), rs965604 (C) and minor alleles of rs1964678 (T), rs12593229 (T) showed negative correlation with lung function. In conclusion, our study replicated the results of most of the previous studies. However, the positive correlation between the minor alleles of rs2568494 (A) and rs10851906 (G) of IREB2 and lung function needs further investigation.

SUBMITTER: Arja C

PROVIDER: S-EPMC3933698 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.

Arja Cholendra C Ravuri Rajasekhara Reddy RR Pulamaghatta Venugopal N VN Surapaneni Krishna Mohan KM Raya Premanand P Adimoolam Chandrasekhar C Kanala Kodanda Reddy KR

PloS one 20140224 2

The development of chronic obstructive pulmonary disease, upon exposure to tobacco smoke, is the cumulative effect of defects in several genes. With the aim of understanding the genetic structure that is characteristic of our patient population, we selected forty two single nucleotide polymorphisms of twenty genes based on previous studies and genotyped a total of 382 samples, which included 236 patients and 146 controls using Sequenom MassARRAY system. Allele frequencies of rs2276109 (MMP12) an ...[more]

PMID: 24587150

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Project description:RationaleSleep disturbance frequently affects patients with chronic obstructive pulmonary disease (COPD), and is associated with reduced quality of life and poorer outcomes. Data indicate that smokers with preserved pulmonary function have clinical symptoms similar to those meeting spirometric criteria for COPD, but little is known about the driving factors for sleep disturbance in this population of emerging interest.ObjectivesTo compare the magnitude and correlates of sleep disturbance between smokers with preserved pulmonary function and those with airflow obstruction.MethodsUsing cross-sectional data from the COPD Outcomes-Based Network for Clinical Effectiveness and Research Translation multicenter registry, we identified participants clinically identified as having COPD with a smoking history of at least 20 pack-years and either preserved pulmonary function or airflow obstruction. We quantified sleep disturbance by T-score measured in the sleep disturbance domain of the Patient-Reported Outcomes Information System questionnaire, and defined a minimum important difference as a T-score difference of two points. We performed univariate and multivariable linear regression to evaluate correlates within each group.ResultsWe identified 100 smokers with preserved pulmonary function and 476 with airflow obstruction. The sleep disturbance T-score was 4.1 points greater among individuals with preserved pulmonary function (95% confidence interval [CI], 2.0-6.3). In adjusted analyses, depression symptom T-score was associated with sleep disturbance in both groups (airflow obstruction: β, 0.61 points; 95% CI, 0.27-0.94; preserved pulmonary function: β, 0.25 points; 95% CI, 0.12-0.38). Of note, lower percent predicted FEV1 was associated with greater sleep disturbance among those with preserved pulmonary function (β, -0.19 points; 95% CI, -0.31 to -0.07), whereas higher FEV1 was associated with greater sleep disturbance among individuals with airflow obstruction (β, 0.06 points; 95% CI, 0.01-0.10).ConclusionsAmong smokers with clinically identified COPD, the severity of sleep disturbance is greater among those with preserved pulmonary function compared with those with airflow obstruction. Nonrespiratory symptoms, such as depression, were associated with sleep disturbance in both groups, whereas the relationship of sleep disturbance with FEV1 differed.

Dataset Information

Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.

Publications

Genetic determinants of chronic obstructive pulmonary disease in South Indian male smokers.

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