rs6837671A>G in <i>FAM13A</i> 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...
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| Format: | Article |
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MDPI AG
2021-01-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/11/2/84 |
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| author | Said El Shamieh Ali Salami Mirna Fawaz Rania Jounblat Mirna Waked Rajaa Fakhoury |
| author_facet | Said El Shamieh Ali Salami Mirna Fawaz Rania Jounblat Mirna Waked Rajaa Fakhoury |
| author_sort | Said El Shamieh |
| collection | DOAJ |
| 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<sup>M</sup>). Adjusted multiple logistic regression models were used. Bonferroni corrections were also applied. The statistical power was also assessed. (3) Results: Both rs6837671A>G in <i>FAM13A</i> and VitD levels were significantly associated with increased risk of COPD (OR = 1.75, <i>p</i> = 0.01, and OR = 3.10, <i>p</i> < 0.001 respectively). An interaction between rs6837671A>G in <i>FAM13A</i> and VitD levels, which increased COPD risk, was found (OR = 3.35 and <i>p</i> < 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 <i>FAM13A</i> is a trans-ethnic genetic variant that interact with VitD to affect COPD. |
| first_indexed | 2024-03-09T03:15:06Z |
| format | Article |
| id | doaj.art-8c4cad2ef588407cb38f4e5deb2ca6a5 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-09T03:15:06Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
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| series | Journal of Personalized Medicine |
| spelling | doaj.art-8c4cad2ef588407cb38f4e5deb2ca6a52023-12-03T15:22:54ZengMDPI AGJournal of Personalized Medicine2075-44262021-01-011128410.3390/jpm11020084rs6837671A>G in <i>FAM13A</i> Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary DiseaseSaid El Shamieh0Ali Salami1Mirna Fawaz2Rania Jounblat3Mirna Waked4Rajaa Fakhoury5Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut P.O. Box 115020, LebanonRammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh P.O. Box 6573/14, LebanonDepartment of Nursing, Faculty of Health Sciences, Beirut Arab University, Beirut P.O. Box 115020, LebanonDepartment of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Fanar P.O. Box 26110217, LebanonDepartment of Pulmonology, St George Hospital University Medical Center, Achrafieh Beirut, P.O. Box 166 378, LebanonDepartment of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut P.O. Box 115020, Lebanon(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<sup>M</sup>). Adjusted multiple logistic regression models were used. Bonferroni corrections were also applied. The statistical power was also assessed. (3) Results: Both rs6837671A>G in <i>FAM13A</i> and VitD levels were significantly associated with increased risk of COPD (OR = 1.75, <i>p</i> = 0.01, and OR = 3.10, <i>p</i> < 0.001 respectively). An interaction between rs6837671A>G in <i>FAM13A</i> and VitD levels, which increased COPD risk, was found (OR = 3.35 and <i>p</i> < 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 <i>FAM13A</i> is a trans-ethnic genetic variant that interact with VitD to affect COPD.https://www.mdpi.com/2075-4426/11/2/84chronic obstructive pulmonary diseasesingle nucleotide polymorphismvitamin Dinteractionmeta-analysis |
| spellingShingle | Said El Shamieh Ali Salami Mirna Fawaz Rania Jounblat Mirna Waked Rajaa Fakhoury rs6837671A>G in <i>FAM13A</i> Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease Journal of Personalized Medicine chronic obstructive pulmonary disease single nucleotide polymorphism vitamin D interaction meta-analysis |
| title | rs6837671A>G in <i>FAM13A</i> Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease |
| title_full | rs6837671A>G in <i>FAM13A</i> Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease |
| title_fullStr | rs6837671A>G in <i>FAM13A</i> Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease |
| title_full_unstemmed | rs6837671A>G in <i>FAM13A</i> Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease |
| title_short | rs6837671A>G in <i>FAM13A</i> Is a Trans-Ethnic Genetic Variant Interacting with Vitamin D Levels to Affect Chronic Obstructive Pulmonary Disease |
| title_sort | rs6837671a g in i fam13a i is a trans ethnic genetic variant interacting with vitamin d levels to affect chronic obstructive pulmonary disease |
| topic | chronic obstructive pulmonary disease single nucleotide polymorphism vitamin D interaction meta-analysis |
| url | https://www.mdpi.com/2075-4426/11/2/84 |
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