Vitamin D Metabolism-related Single Nucleotide Polymorphisms in Chronic Obstructive Pulmonary Disease Risk

Overview

Journal Front Endocrinol (Lausanne)

Specialty Endocrinology

Date 2024 Nov 25

PMID 39583968

Authors

Susana Rojo-Tolosa

Laura Elena Pineda-Lancheros

Andrea Fernandez-Alonso

Noelia Marquez-Pete

Yasmin Cura

Cristina Membrive-Jimenez

Luciana Maria Iglecias-Marangoni

MCarmen Ramirez-Tortosa

Jose Maria Galvez-Navas

Cristina Perez-Ramirez

Concepcion Morales-Garcia

Alberto Jimenez-Morales

Affiliations

Soon will be listed here.

Abstract

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 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 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.

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