RT Journal Article
T1 Prevalence of genetic Diamine Oxidase (DAO) deficiency in female patients with fibromyalgia in Spain
A1 Okutan, Gülşah
A1 Ruiz Casares, Eva
A1 Perucho Alcalde, Teresa
A1 Sánchez Niño, Guerthy Melissa
A1 Penadés, Bruno F.
A1 Terrén Lora, Ana
A1 Torrente Estríngana, Lorena
A1 López Oliva, Sara
A1 San Mauro Martín, Ismael
AB Diamine oxidase (DAO) is an enzyme that metabolizes intestinal histamine. Single nucleotide polymorphisms (SNPs) of the Amine Oxidase Copper Containing 1 (AOC1) gene can lead to low enzymatic activity or functionality in histamine metabolism. This study aimed to determine the prevalence of DAO deficiency for four variants of the AOC1 gene, p.Thr16Met (rs10156191), p.Ser332Phe (rs1049742), p.His664Asp (rs1049793), and c.691G > T (rs2052129), in 98 Spanish women with fibromyalgia between the ages of 33 and 60 years, and compare the distribution of allelic and genotypic frequencies with those of European population samples in Hardy–Weinberg equilibrium extracted from the Allele Frequency Aggregator (ALFA) database. The patients’ DNA was extracted, and analyzed using SNPE Multiplex (Single Nucleotide Primer Extension). The prevalence of genetic DAO deficiency was 74.5% based on the four variants of the AOC1 gene. SNP deficits were found at frequencies of 53.1% for p.Thr16Met, 49% for c.691G > T, 48% for p.His664Asp, and 19.4% for p.Ser332Phe. The allele and genotypic frequencies of the women with fibromyalgia did not differ from the European population. Variants of the AOC1 gene that are associated with genetic DAO deficiency could serve as a disruptive biomarker in patients with fibromyalgia. This study was registered in ClinicalTrials.gov Identifier: NCT05389761.
PB MDPI
SN 2227-9059
YR 2023
FD 2023-02-22
LK https://hdl.handle.net/20.500.14352/104284
UL https://hdl.handle.net/20.500.14352/104284
LA eng
NO Okutan G, Ruiz Casares E, Perucho Alcalde T, Sánchez Niño GM, Penadés BF, Terrén Lora A, et al. Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain. Biomedicines. 2023;11(3):660
DS Docta Complutense
RD 21 abr 2025