Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study
Peripheral artery disease (PAD) and non-compressible artery disease (NCAD) constitute predictors of subclinical atherosclerosis easily assessed through the ankle brachial index (ABI). Although both diseases show substantial genetic influences, few genetic association studies have focused on the ABI...
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MDPI AG
2023-12-01
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| Online Access: | https://www.mdpi.com/2073-4425/15/1/2 |
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| author | Marc Via Guillem Pera Rosa Forés Anna Costa-Garrido Antonio Heras José Miguel Baena-Díez Edurne Pedrosa Inmaculada C. Clemente Noemí Lamonja-Vicente Maria Mataró Pere Torán-Montserrat M. Teresa Alzamora |
| author_facet | Marc Via Guillem Pera Rosa Forés Anna Costa-Garrido Antonio Heras José Miguel Baena-Díez Edurne Pedrosa Inmaculada C. Clemente Noemí Lamonja-Vicente Maria Mataró Pere Torán-Montserrat M. Teresa Alzamora |
| author_sort | Marc Via |
| collection | DOAJ |
| description | Peripheral artery disease (PAD) and non-compressible artery disease (NCAD) constitute predictors of subclinical atherosclerosis easily assessed through the ankle brachial index (ABI). Although both diseases show substantial genetic influences, few genetic association studies have focused on the ABI and PAD, and none have focused on NCAD. To overcome these limitations, we assessed the role of several candidate genes on the ABI, both in its continuous distribution and in the clinical manifestations associated to its extreme values: PAD and NCAD. We examined 13 candidate genomic regions in 1606 participants from the ARTPER study, a prospective population-based cohort, with the ABI assessed through ultrasonography. Association analyses were conducted independently for individuals with PAD (ABI < 0.9) or with NCAD (ABI > 1.4) vs. healthy participants. After including potential covariates and correction for multiple testing, minor alleles in the genetic markers rs10757278 and rs1333049, both in the 9p21.3 region, were significantly associated with a decreased risk of NCAD. Associations with the ABI showed limited support to these results. No significant associations were detected for PAD. The locus 9p21.3 constitutes the first genetic locus associated with NCAD, an assessment of subclinical atherosclerosis feasible for implementation in primary healthcare settings that has been systematically neglected from genetic studies. |
| first_indexed | 2024-03-08T10:54:47Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-08T10:54:47Z |
| publishDate | 2023-12-01 |
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| record_format | Article |
| series | Genes |
| spelling | doaj.art-e6cc6e9aac4e45d983f7656510aba7b52024-01-26T16:41:13ZengMDPI AGGenes2073-44252023-12-01151210.3390/genes15010002Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER StudyMarc Via0Guillem Pera1Rosa Forés2Anna Costa-Garrido3Antonio Heras4José Miguel Baena-Díez5Edurne Pedrosa6Inmaculada C. Clemente7Noemí Lamonja-Vicente8Maria Mataró9Pere Torán-Montserrat10M. Teresa Alzamora11Brainlab-Grup de Recerca en Neurociència Cognitiva, Departament de Psicologia Clínica i Psicobiologia, Institut de Neurociències, Universitat de Barcelona, 08035 Barcelona, SpainUnitat de Suport a la Recerca Metropolitana Nord, Fundació Institut Universitari per a la recerca a l’Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), 08303 Mataró, SpainUnitat de Suport a la Recerca Metropolitana Nord, Fundació Institut Universitari per a la recerca a l’Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), 08303 Mataró, SpainUnitat de Suport a la Recerca Metropolitana Nord, Fundació Institut Universitari per a la recerca a l’Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), 08303 Mataró, SpainUnitat de Suport a la Recerca Metropolitana Nord, Fundació Institut Universitari per a la recerca a l’Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), 08303 Mataró, SpainCentre d’Atenció Primària la Marina, Direcció d’Atenció Primària Barcelona Ciutat, Institut Català de la Salut, 08038 Barcelona, SpainIGTP-HUGTP Biobank, Germans Trias i Pujol Research Institute (IGTP), 08916 Badalona, SpainBrainlab-Grup de Recerca en Neurociència Cognitiva, Departament de Psicologia Clínica i Psicobiologia, Institut de Neurociències, Universitat de Barcelona, 08035 Barcelona, SpainUnitat de Suport a la Recerca Metropolitana Nord, Fundació Institut Universitari per a la recerca a l’Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), 08303 Mataró, SpainInstitut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, SpainUnitat de Suport a la Recerca Metropolitana Nord, Fundació Institut Universitari per a la recerca a l’Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), 08303 Mataró, SpainUnitat de Suport a la Recerca Metropolitana Nord, Fundació Institut Universitari per a la recerca a l’Atenció Primària de Salut Jordi Gol i Gurina (IDIAPJGol), 08303 Mataró, SpainPeripheral artery disease (PAD) and non-compressible artery disease (NCAD) constitute predictors of subclinical atherosclerosis easily assessed through the ankle brachial index (ABI). Although both diseases show substantial genetic influences, few genetic association studies have focused on the ABI and PAD, and none have focused on NCAD. To overcome these limitations, we assessed the role of several candidate genes on the ABI, both in its continuous distribution and in the clinical manifestations associated to its extreme values: PAD and NCAD. We examined 13 candidate genomic regions in 1606 participants from the ARTPER study, a prospective population-based cohort, with the ABI assessed through ultrasonography. Association analyses were conducted independently for individuals with PAD (ABI < 0.9) or with NCAD (ABI > 1.4) vs. healthy participants. After including potential covariates and correction for multiple testing, minor alleles in the genetic markers rs10757278 and rs1333049, both in the 9p21.3 region, were significantly associated with a decreased risk of NCAD. Associations with the ABI showed limited support to these results. No significant associations were detected for PAD. The locus 9p21.3 constitutes the first genetic locus associated with NCAD, an assessment of subclinical atherosclerosis feasible for implementation in primary healthcare settings that has been systematically neglected from genetic studies.https://www.mdpi.com/2073-4425/15/1/2ankle brachial indexnon-compressible artery diseaseperipheral artery disease9p21.3subclinical atherosclerosis |
| spellingShingle | Marc Via Guillem Pera Rosa Forés Anna Costa-Garrido Antonio Heras José Miguel Baena-Díez Edurne Pedrosa Inmaculada C. Clemente Noemí Lamonja-Vicente Maria Mataró Pere Torán-Montserrat M. Teresa Alzamora Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study Genes ankle brachial index non-compressible artery disease peripheral artery disease 9p21.3 subclinical atherosclerosis |
| title | Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study |
| title_full | Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study |
| title_fullStr | Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study |
| title_full_unstemmed | Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study |
| title_short | Genetic Variants at the 9p21.3 Locus Are Associated with Risk for Non-Compressible Artery Disease: Results from the ARTPER Study |
| title_sort | genetic variants at the 9p21 3 locus are associated with risk for non compressible artery disease results from the artper study |
| topic | ankle brachial index non-compressible artery disease peripheral artery disease 9p21.3 subclinical atherosclerosis |
| url | https://www.mdpi.com/2073-4425/15/1/2 |
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