{rfName}
Pi

Indexed in

License and use

Icono OpenAccess

Citations

11

Altmetrics

Grant support

We acknowledge the support of the Generalitat de Catalunya (2021-SGR-00861) and the INSAUB Maria de Maeztu Unit of Excellence (Grant CEX2021-001234-M) funded by MICIN/AEI/FEDER, UE.

Analysis of institutional authors

Ruiz-Casares, EvaAuthor

Share

September 8, 2024
Publications
>
Article
Sí

Pilot Study on the Prevalence of Diamine Oxidase Gene Variants in Patients with Symptoms of Histamine Intolerance

Publicated to:Nutrients. 16 (8): 1142- - 2024-04-01 16(8), DOI: 10.3390/nu16081142

Authors: Duelo, Adriana; Comas-Baste, Oriol; Sanchez-Perez, Sonia; Veciana-Nogues, M Teresa; Ruiz-Casares, Eva; Vidal-Carou, M Carmen; Latorre-Moratalla, M Luz

Affiliations

Int Inst DAO Deficiency, C-Escoles Pies 49, Barcelona 08017, Spain - Author
Univ Barcelona UB, Dept Nutricio Ciencies Alimentacio & Gastron, Campus Alimentacio Torribera,Ave Prat Riba 171, Santa Coloma De Gramenet 08921, Spain - Author
Univ Barcelona UB, Inst Recerca Nutricio Seguretat Alimentaria INSA U, Ave Prat Riba 171, Santa Coloma De Gramenet 08921, Spain - Author
Vivolabs, C-Marques Valdavia 106, Alcobendas 28100, Spain - Author

Abstract

A retrospective pilot study was carried out to investigate the prevalence of four variants of the diamine oxidase (DAO) encoding gene (AOC1) in Caucasian adults with symptoms of histamine intolerance. In a cohort of 100 patients and 100 healthy individuals, DAO-encoding gene non-synonymous Single Nucleotide Variations (SNVs) were genotyped by multiplex single-nucleotide primer extension (SNPE) and capillary electrophoresis, and serum DAO activity was analyzed with a radio-extraction assay. The study found that 79% of individuals with symptoms of histamine intolerance harbored one or more of the four SNVs associated with reduced DAO activity. No significant differences were found in the prevalence of any variant between the group of patients and healthy controls. However, when considering the status of the alleles associated with DAO deficiency, more homozygous alleles were observed in histamine-intolerant patients. Moreover, a slightly but statistically higher percentage of patients had a high genetic risk score, reflecting the cumulative effect of carrying multiple DAO deficiency-associated gene variants and a high load of risk alleles (homozygous). A relationship between serum DAO activity and the genetic load of one specific SNV was observed, with DAO activity being significantly lower in patients homozygous for rs2052129. These results potentially support that carrying multiple DAO deficiency-associated gene variants and a high load of risk alleles (homozygous) is more relevant than the mere presence of one or more SNVs. Further studies are needed to determine the predictive value of these DAO-encoding gene variants.

Keywords

AdultAgedAllelesAmine oxidase (copper-containing)Aoc1 geneAssociationDiamine oxidase (dao)FemaleGenetic predisposition to diseaseGenotypeHistamineHistamine intolerancHistamine intoleranceHumansMaleMetabolizing enzymesMiddle agedMigrainPilot projectsPolymorphism, single nucleotidePolymorphismsPrevalenceRetrospective studiesSeverityWhite people

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Nutrients due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2024 there are still no calculated indicators, but in 2023, it was in position 17/112, thus managing to position itself as a Q1 (Primer Cuartil), in the category Nutrition & Dietetics.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-08-03:

  • WoS: 4
  • Scopus: 4
  • Europe PMC: 2

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-08-03:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 7.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 10 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 2.1.
  • The number of mentions on the social network X (formerly Twitter): 2 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.