Cargando…

rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease

(1) Background and objectives: Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality throughout the world. In addition to genetics, increasing evidence suggests that Vitamin D (VitD) might be involved in different pathogenic mechanisms in COPD. Furthermore, the prevalence of V...

Descripción completa

Detalles Bibliográficos
Autores principales: El Shamieh, Said, Salami, Ali, Fawaz, Mirna, Jounblat, Rania, Waked, Mirna, Fakhoury, Rajaa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912529/
https://www.ncbi.nlm.nih.gov/pubmed/33573279
http://dx.doi.org/10.3390/jpm11020084
_version_ 1783656597563637760
author El Shamieh, Said
Salami, Ali
Fawaz, Mirna
Jounblat, Rania
Waked, Mirna
Fakhoury, Rajaa
author_facet El Shamieh, Said
Salami, Ali
Fawaz, Mirna
Jounblat, Rania
Waked, Mirna
Fakhoury, Rajaa
author_sort El Shamieh, Said
collection PubMed
description (1) Background and objectives: Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality throughout the world. In addition to genetics, increasing evidence suggests that Vitamin D (VitD) might be involved in different pathogenic mechanisms in COPD. Furthermore, the prevalence of VitD insufficiency is exceptionally high in COPD patients and increases with the severity. Based on the above, we first tested the relation between the top 10 single nucleotide polymorphisms from genome-wide association studies and the risk of COPD. Then, we investigated whether VitD levels might also have a role in COPD. A meta-analysis followed, combining our participants with previously published European and non-European populations (15,716 cases and 48,107 controls). (2) Methods: 631 Lebanese participants were recruited, of which ~28% were affected with COPD. Demographic and clinical data were collected, and DNA was genotyped using Kompetitive allele-specific PCR (KASPT(M)). Adjusted multiple logistic regression models were used. Bonferroni corrections were also applied. The statistical power was also assessed. (3) Results: Both rs6837671A>G in FAM13A and VitD levels were significantly associated with increased risk of COPD (OR = 1.75, p = 0.01, and OR = 3.10, p < 0.001 respectively). An interaction between rs6837671A>G in FAM13A and VitD levels, which increased COPD risk, was found (OR = 3.35 and p < 0.001). The meta-analysis showed that rs6837671G increases COPD risk in populations from different origins; Europeans, Asians, and now in Middle-Eastern. (4) Conclusions: Our results suggest that rs6837671A>G in FAM13A is a trans-ethnic genetic variant that interact with VitD to affect COPD.
format Online
Article
Text
id pubmed-7912529
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-79125292021-02-28 rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease El Shamieh, Said Salami, Ali Fawaz, Mirna Jounblat, Rania Waked, Mirna Fakhoury, Rajaa J Pers Med Article (1) Background and objectives: Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality throughout the world. In addition to genetics, increasing evidence suggests that Vitamin D (VitD) might be involved in different pathogenic mechanisms in COPD. Furthermore, the prevalence of VitD insufficiency is exceptionally high in COPD patients and increases with the severity. Based on the above, we first tested the relation between the top 10 single nucleotide polymorphisms from genome-wide association studies and the risk of COPD. Then, we investigated whether VitD levels might also have a role in COPD. A meta-analysis followed, combining our participants with previously published European and non-European populations (15,716 cases and 48,107 controls). (2) Methods: 631 Lebanese participants were recruited, of which ~28% were affected with COPD. Demographic and clinical data were collected, and DNA was genotyped using Kompetitive allele-specific PCR (KASPT(M)). Adjusted multiple logistic regression models were used. Bonferroni corrections were also applied. The statistical power was also assessed. (3) Results: Both rs6837671A>G in FAM13A and VitD levels were significantly associated with increased risk of COPD (OR = 1.75, p = 0.01, and OR = 3.10, p < 0.001 respectively). An interaction between rs6837671A>G in FAM13A and VitD levels, which increased COPD risk, was found (OR = 3.35 and p < 0.001). The meta-analysis showed that rs6837671G increases COPD risk in populations from different origins; Europeans, Asians, and now in Middle-Eastern. (4) Conclusions: Our results suggest that rs6837671A>G in FAM13A is a trans-ethnic genetic variant that interact with VitD to affect COPD. MDPI 2021-01-30 /pmc/articles/PMC7912529/ /pubmed/33573279 http://dx.doi.org/10.3390/jpm11020084 Text en © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
El Shamieh, Said
Salami, Ali
Fawaz, Mirna
Jounblat, Rania
Waked, Mirna
Fakhoury, Rajaa
rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease
title rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease
title_full rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease
title_fullStr rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease
title_full_unstemmed rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease
title_short rs6837671A>G in FAM13A Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease
title_sort rs6837671a>g in fam13a is a trans-ethnic genetic variant interacting with vitamin d levels to affect chronic obstructive pulmonary disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912529/
https://www.ncbi.nlm.nih.gov/pubmed/33573279
http://dx.doi.org/10.3390/jpm11020084
work_keys_str_mv AT elshamiehsaid rs6837671aginfam13aisatransethnicgeneticvariantinteractingwithvitamindlevelstoaffectchronicobstructivepulmonarydisease
AT salamiali rs6837671aginfam13aisatransethnicgeneticvariantinteractingwithvitamindlevelstoaffectchronicobstructivepulmonarydisease
AT fawazmirna rs6837671aginfam13aisatransethnicgeneticvariantinteractingwithvitamindlevelstoaffectchronicobstructivepulmonarydisease
AT jounblatrania rs6837671aginfam13aisatransethnicgeneticvariantinteractingwithvitamindlevelstoaffectchronicobstructivepulmonarydisease
AT wakedmirna rs6837671aginfam13aisatransethnicgeneticvariantinteractingwithvitamindlevelstoaffectchronicobstructivepulmonarydisease
AT fakhouryrajaa rs6837671aginfam13aisatransethnicgeneticvariantinteractingwithvitamindlevelstoaffectchronicobstructivepulmonarydisease