Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study
Introduction: The amine oxidase copper-containing 1 (AOC1) gene encodes for the diamine oxidase (DAO) enzyme. DAO is an enzyme that catabolizes some molecules, including histamine, and is the degradative enzyme in the polyamine catabolic pathway that is active in intestinal mucosal cells. Variants o...
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| Format: | Article |
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Frontiers Media S.A.
2023-06-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1180777/full |
| _version_ | 1797808350156554240 |
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| author | Gülşah Okutan Teresa Perucho Alcalde Teresa Perucho Alcalde Eva Ruiz Casares Eva Ruiz Casares Bruno F. Penadés Guerthy Melissa Sánchez Niño Ana Terrén Lora Sara López Oliva Lorena Torrente Estríngana Adriana Duelo Ismael San Mauro Martín |
| author_facet | Gülşah Okutan Teresa Perucho Alcalde Teresa Perucho Alcalde Eva Ruiz Casares Eva Ruiz Casares Bruno F. Penadés Guerthy Melissa Sánchez Niño Ana Terrén Lora Sara López Oliva Lorena Torrente Estríngana Adriana Duelo Ismael San Mauro Martín |
| author_sort | Gülşah Okutan |
| collection | DOAJ |
| description | Introduction: The amine oxidase copper-containing 1 (AOC1) gene encodes for the diamine oxidase (DAO) enzyme. DAO is an enzyme that catabolizes some molecules, including histamine, and is the degradative enzyme in the polyamine catabolic pathway that is active in intestinal mucosal cells. Variants of AOC1 are associated with reduced DAO activity, resulting in accumulation of high levels of histamine and causing a wide range of neurological, gastrointestinal, and epidermal disorders, which are present in people with fibromyalgia. This study aimed to evaluate the impact of four AOC1 gene variants, namely, rs10156191, rs1049742, rs1049793, and rs2052129, on fibromyalgia symptoms measured by the Fibromyalgia Impact Questionnaire (FIQ), such as sleep disorders, atopic dermatitis, migraine, gastrointestinal (GI) disorders, allergies, and intolerances, in adult women with fibromyalgia.Methods: The sample consisted of 100 unrelated women with fibromyalgia between 33 and 60 years of age (48.48 years ±7.35), whose were diagnosed by a rheumatologist based on symptoms such as pain, stiffness, and fatigue. Single-nucleotide polymorphisms (SNPs) of AOC1 were identified using oral mucosa samples collected following a standard hygiene protocol. DNA was extracted, and gene variants of interest were analyzed using multiplex single-nucleotide primer extension (SNPE). Clinical data were collected using the FIQ and a series of variables that quantified the intensity and frequency of the symptoms.Results: The minor allele frequencies of rs10156191, rs1049742, rs1049793, and rs2052129 were 31.5, 10, 32.5, and 27%, respectively. Each variant was found to be in Hardy–Weinberg equilibrium, but partial linkage disequilibrium between AOC1 SNPs is suspected. The results show that fibromyalgia symptoms measured using the FIQ tend to increase with the number of risk alleles and that the intensity of dry skin and low stool consistency may be associated with an increase in the number of these alleles.Conclusion: This study constitutes the first step in investigating associations between fibromyalgia symptoms and candidate variants of the AOC1 gene in DAO enzyme activity. Identification of reduced DAO activity may improve the quality of life and treatment of symptoms in fibromyalgia patients. |
| first_indexed | 2024-03-13T06:36:14Z |
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| institution | Directory Open Access Journal |
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| language | English |
| last_indexed | 2024-03-13T06:36:14Z |
| publishDate | 2023-06-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-9f54de9fe70440f68f1157aa1e33256c2023-06-09T04:48:58ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-06-011410.3389/fgene.2023.11807771180777Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot studyGülşah Okutan0Teresa Perucho Alcalde1Teresa Perucho Alcalde2Eva Ruiz Casares3Eva Ruiz Casares4Bruno F. Penadés5Guerthy Melissa Sánchez Niño6Ana Terrén Lora7Sara López Oliva8Lorena Torrente Estríngana9Adriana Duelo10Ismael San Mauro Martín11Research Centers in Nutrition and Health, CINUSA Group, Madrid, SpainVIVOLABS, Grupo Vivo, Madrid, SpainFaculty of Medicine, Permanent Training Center, Universidad Complutense de Madrid, Madrid, SpainVIVOLABS, Grupo Vivo, Madrid, SpainHuman Genetics and Molecular Diagnostics, Universidad San Pablo-CEU, Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, Madrid, SpainResearch Centers in Nutrition and Health, CINUSA Group, Madrid, SpainInternational Institute of DAO Deficiency, Barcelona, SpainResearch Centers in Nutrition and Health, CINUSA Group, Madrid, SpainIntroduction: The amine oxidase copper-containing 1 (AOC1) gene encodes for the diamine oxidase (DAO) enzyme. DAO is an enzyme that catabolizes some molecules, including histamine, and is the degradative enzyme in the polyamine catabolic pathway that is active in intestinal mucosal cells. Variants of AOC1 are associated with reduced DAO activity, resulting in accumulation of high levels of histamine and causing a wide range of neurological, gastrointestinal, and epidermal disorders, which are present in people with fibromyalgia. This study aimed to evaluate the impact of four AOC1 gene variants, namely, rs10156191, rs1049742, rs1049793, and rs2052129, on fibromyalgia symptoms measured by the Fibromyalgia Impact Questionnaire (FIQ), such as sleep disorders, atopic dermatitis, migraine, gastrointestinal (GI) disorders, allergies, and intolerances, in adult women with fibromyalgia.Methods: The sample consisted of 100 unrelated women with fibromyalgia between 33 and 60 years of age (48.48 years ±7.35), whose were diagnosed by a rheumatologist based on symptoms such as pain, stiffness, and fatigue. Single-nucleotide polymorphisms (SNPs) of AOC1 were identified using oral mucosa samples collected following a standard hygiene protocol. DNA was extracted, and gene variants of interest were analyzed using multiplex single-nucleotide primer extension (SNPE). Clinical data were collected using the FIQ and a series of variables that quantified the intensity and frequency of the symptoms.Results: The minor allele frequencies of rs10156191, rs1049742, rs1049793, and rs2052129 were 31.5, 10, 32.5, and 27%, respectively. Each variant was found to be in Hardy–Weinberg equilibrium, but partial linkage disequilibrium between AOC1 SNPs is suspected. The results show that fibromyalgia symptoms measured using the FIQ tend to increase with the number of risk alleles and that the intensity of dry skin and low stool consistency may be associated with an increase in the number of these alleles.Conclusion: This study constitutes the first step in investigating associations between fibromyalgia symptoms and candidate variants of the AOC1 gene in DAO enzyme activity. Identification of reduced DAO activity may improve the quality of life and treatment of symptoms in fibromyalgia patients.https://www.frontiersin.org/articles/10.3389/fgene.2023.1180777/fullAOC1 geneDAO geneDAO deficiencydiamine oxidasehistamine intolerancefibromyalgia |
| spellingShingle | Gülşah Okutan Teresa Perucho Alcalde Teresa Perucho Alcalde Eva Ruiz Casares Eva Ruiz Casares Bruno F. Penadés Guerthy Melissa Sánchez Niño Ana Terrén Lora Sara López Oliva Lorena Torrente Estríngana Adriana Duelo Ismael San Mauro Martín Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study Frontiers in Genetics AOC1 gene DAO gene DAO deficiency diamine oxidase histamine intolerance fibromyalgia |
| title | Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study |
| title_full | Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study |
| title_fullStr | Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study |
| title_full_unstemmed | Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study |
| title_short | Cumulative effect of AOC1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia: a pilot study |
| title_sort | cumulative effect of aoc1 gene variants on symptoms and pathological conditions in adult women with fibromyalgia a pilot study |
| topic | AOC1 gene DAO gene DAO deficiency diamine oxidase histamine intolerance fibromyalgia |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1180777/full |
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