2026-06-29T01:20:35Zhttps://docta.ucm.es/rest/oai/request

oai:docta.ucm.es:20.500.14352/1042842025-03-18T12:55:03Zcom_20.500.14352_14col_20.500.14352_15

00925njm 22002777a 4500 dc Okutan, Gülşah author Ruiz Casares, Eva author Perucho Alcalde, Teresa author Sánchez Niño, Guerthy Melissa author Penadés, Bruno F. author Terrén Lora, Ana author Torrente Estríngana, Lorena author López Oliva, Sara author San Mauro Martín, Ismael author 2023-02-22 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. 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 2227-9059 10.3390/biomedicines11030660 https://hdl.handle.net/20.500.14352/104284 https://www.mdpi.com/2227-9059/11/3/660 Prevalence of genetic Diamine Oxidase (DAO) deficiency in female patients with fibromyalgia in Spain