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. 2024 Mar 14;13(6):1659.
doi: 10.3390/jcm13061659.

Prevalence and Clinical Picture of Diamine Oxidase Gene Variants in Children and Adolescents with Attention Deficit Hyperactivity Disorder: A Pilot Study

Hilario Blasco-Fontecilla  1   2 , Marcos Bella-Fernández  3   4   5 , Ping Wang  6 , Marina Martin-Moratinos  3   6 , Chao Li  6
Affiliations

Prevalence and Clinical Picture of Diamine Oxidase Gene Variants in Children and Adolescents with Attention Deficit Hyperactivity Disorder: A Pilot Study

Hilario Blasco-Fontecilla et al. J Clin Med. .

Abstract

Background: Attention Deficit Hyperactivity Disorder (ADHD) is the most prevalent neurodevelopmental disorder worldwide. The diamine oxidase enzyme (DAO) is responsible for the histamine gastrointestinal degradation. Its deficient functioning may implicate an excess of histamine in the body. The excess of histamine (histamine intolerance, HIT) has been related with a growing number of diseases and pseudo-allergic symptomatology. However, data on the relationship between the DAO enzyme, HIT, and ADHD are lacking. The main objective of this pilot is to study the prevalence of the four most relevant SNP variants of the AOC1 gene affecting DAO enzyme functionality in a sample of patients diagnosed with ADHD attending child and adolescent mental health services. Methods: In a cohort of 303 participants, we measured the SNP variants of the AOC1 gene. Results: The prevalence of having at least one minor dysfunctional allele was 78.8%. No relationship between ADHD severity and DAO deficiency was found. However, some AOC1 gene variants associated with DAO deficiency were related to several meaningful medical comorbidities. Furthermore, we found a strong association between DAO activity and the intelligence quotient, particularly in working memory. Conclusions: Some SNP variants of the AOC1 gene associated with DAO deficiency are related to some medical comorbidities and cognitive dysfunction in ADHD children and adolescents. Studies including patients with other diagnoses and healthy controls and bigger samples are warranted to confirm our preliminary results.

Keywords: ADHD; DAO; genetics; intelligence; prevalence.

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Conflict of interest statement

In the last 24 months, H.B.-F. has received lecture fees from Takeda, BIAL, laboratorios Rubio, and laboratorios Rovi. He has also been granted with three prizes regarding the development of a serious videogame for treating ADHD (The Secret Trail of Moon): the Shibuya Prize by Takeda; the first prize of the college of psychologists of Madrid; and a prize to the best innovative health initiative within the healthstart prize. He is Principal Investigator (PI) of an iPFIS research contract (www.isciii.es, accessed on 12 August 2022; IFI16/00039), co-PI of a MINECO research grant (RTI2018-101857-B-I00), and PI of a research of the SINCRONIA project, funded by the Start-up Bitsphi, www.bitsphi.com; a recipient of (1) a FIPSE Grant and (2) an IDIPHISA intensification grant; involved in two clinical trials (MENSIA KOALA, NEWROFEED Study; ESKETSUI2002); and the Co-Founder of Haglaia Solutions. The rest of the authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Relationship between DAO reduction and genotype variants and medical conditions (n = 303).
Figure 2
Figure 2
Relationship between DAO reduction severity and cognitive skills.
See this image and copyright information in PMC

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