Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain
Diamine oxidase (DAO) is an enzyme that metabolizes intestinal histamine. Single nucleotide polymorphisms (SNPs) of the Amine Oxidase Copper Containing 1 (<i>AOC1</i>) gene can lead to low enzymatic activity or functionality in histamine metabolism. This study aimed to determine the prev...
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MDPI AG
2023-02-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/11/3/660 |
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| author | Gülşah Okutan Eva Ruiz Casares Teresa Perucho Alcalde Guerthy Melissa Sánchez Niño Bruno F. Penadés Ana Terrén Lora Lorena Torrente Estríngana Sara López Oliva Ismael San Mauro Martín |
| author_facet | Gülşah Okutan Eva Ruiz Casares Teresa Perucho Alcalde Guerthy Melissa Sánchez Niño Bruno F. Penadés Ana Terrén Lora Lorena Torrente Estríngana Sara López Oliva Ismael San Mauro Martín |
| author_sort | Gülşah Okutan |
| collection | DOAJ |
| description | Diamine oxidase (DAO) is an enzyme that metabolizes intestinal histamine. Single nucleotide polymorphisms (SNPs) of the Amine Oxidase Copper Containing 1 (<i>AOC1</i>) 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 <i>AOC1</i> 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 <i>AOC1</i> 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 <i>AOC1</i> 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. |
| first_indexed | 2024-03-11T06:54:34Z |
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| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-11T06:54:34Z |
| publishDate | 2023-02-01 |
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| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-75db6e6bd8864462a2141154eb3fad312023-11-17T09:43:42ZengMDPI AGBiomedicines2227-90592023-02-0111366010.3390/biomedicines11030660Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in SpainGülşah Okutan0Eva Ruiz Casares1Teresa Perucho Alcalde2Guerthy Melissa Sánchez Niño3Bruno F. Penadés4Ana Terrén Lora5Lorena Torrente Estríngana6Sara López Oliva7Ismael San Mauro Martín8Research Centers in Nutrition and Health, CINUSA Group, 28036 Madrid, SpainVIVO Laboratorio, Grupo Vivo, Alcobendas, 28100 Madrid, SpainVIVO Laboratorio, Grupo Vivo, Alcobendas, 28100 Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, 28036 Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, 28036 Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, 28036 Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, 28036 Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, 28036 Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, 28036 Madrid, SpainDiamine oxidase (DAO) is an enzyme that metabolizes intestinal histamine. Single nucleotide polymorphisms (SNPs) of the Amine Oxidase Copper Containing 1 (<i>AOC1</i>) 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 <i>AOC1</i> 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 <i>AOC1</i> 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 <i>AOC1</i> 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.https://www.mdpi.com/2227-9059/11/3/660DAO enzyme<i>AOC1</i>fibromyalgiavariantsSNPsgenetic deficiency |
| spellingShingle | Gülşah Okutan Eva Ruiz Casares Teresa Perucho Alcalde Guerthy Melissa Sánchez Niño Bruno F. Penadés Ana Terrén Lora Lorena Torrente Estríngana Sara López Oliva Ismael San Mauro Martín Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain Biomedicines DAO enzyme <i>AOC1</i> fibromyalgia variants SNPs genetic deficiency |
| title | Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain |
| title_full | Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain |
| title_fullStr | Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain |
| title_full_unstemmed | Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain |
| title_short | Prevalence of Genetic Diamine Oxidase (DAO) Deficiency in Female Patients with Fibromyalgia in Spain |
| title_sort | prevalence of genetic diamine oxidase dao deficiency in female patients with fibromyalgia in spain |
| topic | DAO enzyme <i>AOC1</i> fibromyalgia variants SNPs genetic deficiency |
| url | https://www.mdpi.com/2227-9059/11/3/660 |
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