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| Name | Class |
|---|---|
| Grupo Hospitalario Quironsalud-Catalunya | UNKNOWN |
| Hospital Universitari General de Catalunya | OTHER |
| Quironsalud | OTHER |
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Observational study to estimate the prevalence of genetic DAO deficiency in the population.
Diamine oxidase (DAO) is an enzyme encoded by the AOC1 gene responsible for the degradation of extracellular histamine. There are different factors that can induce a decrease in the DAO activity, with genetic origin being the main one. Currently, multiple genes have been identified SNPs that can alter the correct functioning of the DAO. The four most relevant SNPs that lead to a reduction in the enzymatic activity of DAO or a transcriptional activity decreased in this are the following: c.47C>T (rs10156191), c.995C>T (rs1049742), c.1990C>G (rs1049793) and c.-691G>T (rs2052129). Clinical studies indicate that DAO deficiency has a high prevalence in diseases such as Migraine (87%), fibromyalgia (75%) or attention deficit hyperactivity disorder (ADHD) in children (75%). However, to date no study has been conducted exploring the prevalence gene of DAO deficiency in the general population. Thus, the objective of this study is to estimate the prevalence of genetic DAO deficiency in the population.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Newborns | Newborns born at the centre |
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| Measure | Description | Time Frame |
|---|---|---|
| AOC1 gene variants | DAO deficiency will be defined as the presence of at least one of the SNPs of the AOC1 gene described previously, with reference rs10156191, rs1049742, rs1049793 and rs2052129 | In a range from day of birth up to 3 days of life |
| Measure | Description | Time Frame |
|---|---|---|
| Sex | Sex | In a range from day of birth up to 3 days of life |
| Demographic characteristics | Ethnicity | In a range from day of birth up to 3 days of life |
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Inclusion Criteria:
Exclusion Criteria:
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Newborns born in Hospital Universitari Genreal de Catalunya during the period of study
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospital General de Catalunya | Sant Cugat del Vallès | Barcelona | 08195 | Spain |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 38541885 | Background | Blasco-Fontecilla H, Bella-Fernandez M, Wang P, Martin-Moratinos M, Li C. Prevalence and Clinical Picture of Diamine Oxidase Gene Variants in Children and Adolescents with Attention Deficit Hyperactivity Disorder: A Pilot Study. J Clin Med. 2024 Mar 14;13(6):1659. doi: 10.3390/jcm13061659. | |
| 39200725 | Background |
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AOC1 genetic SNPs prevalence in the studied population
According to legislation
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| Lopez Garcia R, Ferrer-Garcia J, Sansalvador A, Quera-Salva MA. Prevalence of Diamine Oxidase Enzyme (DAO) Deficiency in Subjects with Insomnia-Related Symptoms. J Clin Med. 2024 Aug 6;13(16):4583. doi: 10.3390/jcm13164583. |
| 37959335 | Background | Ponce Diaz-Reixa J, Aller Rodriguez M, Martinez Breijo S, Suanzes Hernandez J, Ruiz Casares E, Perucho Alcalde T, Bohorquez Cruz M, Mosquera Seoane T, Sanchez Merino JM, Freire Calvo J, Fernandez Suarez P, Chantada Abal V. Lower Urinary Tract Symptoms (LUTS) as a New Clinical Presentation of Histamine Intolerance: A Prevalence Study of Genetic Diamine Oxidase Deficiency. J Clin Med. 2023 Oct 31;12(21):6870. doi: 10.3390/jcm12216870. |
| 28624934 | Background | Izquierdo-Casas J, Comas-Baste O, Latorre-Moratalla ML, Lorente-Gascon M, Duelo A, Vidal-Carou MC, Soler-Singla L. Low serum diamine oxidase (DAO) activity levels in patients with migraine. J Physiol Biochem. 2018 Feb;74(1):93-99. doi: 10.1007/s13105-017-0571-3. Epub 2017 Jun 17. |
| 30836736 | Background | Schnedl WJ, Lackner S, Enko D, Schenk M, Holasek SJ, Mangge H. Evaluation of symptoms and symptom combinations in histamine intolerance. Intest Res. 2019 Jul;17(3):427-433. doi: 10.5217/ir.2018.00152. Epub 2019 Mar 7. |