A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes
Endometriosis, one of the most common gynecological disorders, is a complex disease characterized by the growth of endometrial-like tissue in extra-uterine locations and is a cause of pelvic pain and infertility. Evidence from observational studies indicate that endometriosis usually appears togethe...
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MDPI AG
2021-01-01
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| Online Access: | https://www.mdpi.com/2075-1729/11/1/24 |
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| author | Aiara Garitazelaia Aintzane Rueda-Martínez Rebeca Arauzo Jokin de Miguel Ariadna Cilleros-Portet Sergi Marí Jose Ramon Bilbao Nora Fernandez-Jimenez Iraia García-Santisteban |
| author_facet | Aiara Garitazelaia Aintzane Rueda-Martínez Rebeca Arauzo Jokin de Miguel Ariadna Cilleros-Portet Sergi Marí Jose Ramon Bilbao Nora Fernandez-Jimenez Iraia García-Santisteban |
| author_sort | Aiara Garitazelaia |
| collection | DOAJ |
| description | Endometriosis, one of the most common gynecological disorders, is a complex disease characterized by the growth of endometrial-like tissue in extra-uterine locations and is a cause of pelvic pain and infertility. Evidence from observational studies indicate that endometriosis usually appears together with several other phenotypes. These include a list of autoimmune diseases, most of them more prevalent in women, anthropometric traits associated with leanness in the adulthood, as well as female reproductive traits, including altered hormone levels and those associated with a prolonged exposure to menstruation. However, the biological mechanisms underlying their co-morbidity remains unknown. To explore whether those phenotypes and endometriosis share a common genetic origin, we performed a systematic Two-Sample Mendelian Randomization (2SMR) analysis using public GWAS data. Our results suggest potential common genetic roots between endometriosis and female anthropometric and reproductive traits. Particularly, our data suggests that reduced weight and BMI might be mediating the genetic susceptibility to suffer endometriosis. Furthermore, data on female reproductive traits strongly suggest that genetic variants that predispose to a more frequent exposure to menstruation, through earlier age at menarche and shorter menstrual cycles, might also increase the risk to suffer from endometriosis. |
| first_indexed | 2024-03-10T13:32:22Z |
| format | Article |
| id | doaj.art-ddd5b27951a64344b17fb5f38ea4bdea |
| institution | Directory Open Access Journal |
| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-10T13:32:22Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Life |
| spelling | doaj.art-ddd5b27951a64344b17fb5f38ea4bdea2023-11-21T07:53:29ZengMDPI AGLife2075-17292021-01-011112410.3390/life11010024A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated PhenotypesAiara Garitazelaia0Aintzane Rueda-Martínez1Rebeca Arauzo2Jokin de Miguel3Ariadna Cilleros-Portet4Sergi Marí5Jose Ramon Bilbao6Nora Fernandez-Jimenez7Iraia García-Santisteban8Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainDepartment of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, 48940 Leioa, Basque Country, SpainEndometriosis, one of the most common gynecological disorders, is a complex disease characterized by the growth of endometrial-like tissue in extra-uterine locations and is a cause of pelvic pain and infertility. Evidence from observational studies indicate that endometriosis usually appears together with several other phenotypes. These include a list of autoimmune diseases, most of them more prevalent in women, anthropometric traits associated with leanness in the adulthood, as well as female reproductive traits, including altered hormone levels and those associated with a prolonged exposure to menstruation. However, the biological mechanisms underlying their co-morbidity remains unknown. To explore whether those phenotypes and endometriosis share a common genetic origin, we performed a systematic Two-Sample Mendelian Randomization (2SMR) analysis using public GWAS data. Our results suggest potential common genetic roots between endometriosis and female anthropometric and reproductive traits. Particularly, our data suggests that reduced weight and BMI might be mediating the genetic susceptibility to suffer endometriosis. Furthermore, data on female reproductive traits strongly suggest that genetic variants that predispose to a more frequent exposure to menstruation, through earlier age at menarche and shorter menstrual cycles, might also increase the risk to suffer from endometriosis.https://www.mdpi.com/2075-1729/11/1/24endometriosismendelian randomizationcomorbiditiesautoimmune diseasesanthropometric traitsfemale reproductive traits |
| spellingShingle | Aiara Garitazelaia Aintzane Rueda-Martínez Rebeca Arauzo Jokin de Miguel Ariadna Cilleros-Portet Sergi Marí Jose Ramon Bilbao Nora Fernandez-Jimenez Iraia García-Santisteban A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes Life endometriosis mendelian randomization comorbidities autoimmune diseases anthropometric traits female reproductive traits |
| title | A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes |
| title_full | A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes |
| title_fullStr | A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes |
| title_full_unstemmed | A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes |
| title_short | A Systematic Two-Sample Mendelian Randomization Analysis Identifies Shared Genetic Origin of Endometriosis and Associated Phenotypes |
| title_sort | systematic two sample mendelian randomization analysis identifies shared genetic origin of endometriosis and associated phenotypes |
| topic | endometriosis mendelian randomization comorbidities autoimmune diseases anthropometric traits female reproductive traits |
| url | https://www.mdpi.com/2075-1729/11/1/24 |
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