Single nucleotide polymorphisms related to vitamin D metabolism in patients with chronic obstructive pulmonary disease

Introduction: Chronic obstructive pulmonary disease (COPD) is one of the
world's major public health problems. It is characterized by a major
inflammatory response, where vitamin D, due to its role in
regulating the immune system, and genetic variants involved in its
metabolism may play an essential role. The aim of this study is
to evaluate the association between 13 polymorphisms related to
vitamin D metabolism and the COPD risk. Material and methods: A
retrospective longitudinal study was designed in which 152 cases of COPD
diagnosed at the University Hospital Virgen de las Nieves and 456 controls
without the pathology, matched by age and sex, were included. The
determination of the 13 polymorphisms was carried out using TaqMan™
probes. Results: Statistical analysis showed that the AA genotype and the
A allele of the CYP27B1 rs4646536 polymorphism may be associated with an
increased risk of developing COPD according to genotypic models (OR = 2.6;
95% CI = 1.38-5.22; p = 0.004), dominant (OR = 1.69; 95% CI = 1.15-2.5; p
= 0.008), recessive (OR = 2.24; 95% CI = 1.22-4.41; p = 0.013) and
additive (OR = 1.56; 95% CI = 1.18-2.08; p =0.020) models. Likewise, the
AA genotype and the A allele of the CYP2R1 rs10741657 polymorphism were
also associated with the risk of developing COPD according to the
genotypic (OR = 1.9; 95% CI = 1.06-3.36; p = 0.028) and additive (OR =
1.37; 95% CI = 1.04-1.81; p = 0.027) models. Likewise, an association was
found between GATG (p = 0.002; OR = 2.05; 95%CI = 1.32-3.20) and AGGT (p
< 0.0001; OR = 2.1e46; 95%CI = 2.1e46-2.1e46) haplotypes and an
increased risk of COPD. Conclusions: We can therefore conclude that those
variants could be used in the early detection of the disease in the
future.