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Genetic Relationship Between Endometriosis and Melanoma

Epidemiological studies have observed that risk of endometriosis is associated with history of cutaneous melanoma and vice versa. Evidence for shared biological mechanisms between the two traits is limited. The aim of this study was to investigate the genetic correlation and causal relationship betw...

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Autores principales: Yang, Fei, Mortlock, Sally, MacGregor, Stuart, Iles, Mark M., Landi, Maria Teresa, Shi, Jianxin, Law, Matthew H., Montgomery, Grant W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9580819/
https://www.ncbi.nlm.nih.gov/pubmed/36304021
http://dx.doi.org/10.3389/frph.2021.711123
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author Yang, Fei
Mortlock, Sally
MacGregor, Stuart
Iles, Mark M.
Landi, Maria Teresa
Shi, Jianxin
Law, Matthew H.
Montgomery, Grant W.
author_facet Yang, Fei
Mortlock, Sally
MacGregor, Stuart
Iles, Mark M.
Landi, Maria Teresa
Shi, Jianxin
Law, Matthew H.
Montgomery, Grant W.
author_sort Yang, Fei
collection PubMed
description Epidemiological studies have observed that risk of endometriosis is associated with history of cutaneous melanoma and vice versa. Evidence for shared biological mechanisms between the two traits is limited. The aim of this study was to investigate the genetic correlation and causal relationship between endometriosis and melanoma. Summary statistics from genome-wide association meta-analyses (GWAS) for endometriosis and melanoma were used to estimate the genetic correlation between the traits and Mendelian randomization was used to test for a causal association. When using summary statistics from separate female and male melanoma cohorts we identified a significant positive genetic correlation between melanoma in females and endometriosis (r(g) = 0.144, se = 0.065, p = 0.025). However, we find no evidence of a correlation between endometriosis and melanoma in males or a combined melanoma dataset. Endometriosis was not genetically correlated with skin color, red hair, childhood sunburn occasions, ease of skin tanning, or nevus count suggesting that the correlation between endometriosis and melanoma in females is unlikely to be influenced by pigmentary traits. Mendelian Randomization analyses also provided evidence for a relationship between the genetic risk of melanoma in females and endometriosis. Colocalization analysis identified 27 genomic loci jointly associated with the two diseases regions that contain different causal variants influencing each trait independently. This study provides evidence of a small genetic correlation and relationship between the genetic risk of melanoma in females and endometriosis. Genetic risk does not equate to disease occurrence and differences in the pathogenesis and age of onset of both diseases means it is unlikely that occurrence of melanoma causes endometriosis. This study instead provides evidence that having an increased genetic risk for melanoma in females is related to increased risk of endometriosis. Larger GWAS studies with increased power will be required to further investigate these associations.
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spelling pubmed-95808192022-10-26 Genetic Relationship Between Endometriosis and Melanoma Yang, Fei Mortlock, Sally MacGregor, Stuart Iles, Mark M. Landi, Maria Teresa Shi, Jianxin Law, Matthew H. Montgomery, Grant W. Front Reprod Health Reproductive Health Epidemiological studies have observed that risk of endometriosis is associated with history of cutaneous melanoma and vice versa. Evidence for shared biological mechanisms between the two traits is limited. The aim of this study was to investigate the genetic correlation and causal relationship between endometriosis and melanoma. Summary statistics from genome-wide association meta-analyses (GWAS) for endometriosis and melanoma were used to estimate the genetic correlation between the traits and Mendelian randomization was used to test for a causal association. When using summary statistics from separate female and male melanoma cohorts we identified a significant positive genetic correlation between melanoma in females and endometriosis (r(g) = 0.144, se = 0.065, p = 0.025). However, we find no evidence of a correlation between endometriosis and melanoma in males or a combined melanoma dataset. Endometriosis was not genetically correlated with skin color, red hair, childhood sunburn occasions, ease of skin tanning, or nevus count suggesting that the correlation between endometriosis and melanoma in females is unlikely to be influenced by pigmentary traits. Mendelian Randomization analyses also provided evidence for a relationship between the genetic risk of melanoma in females and endometriosis. Colocalization analysis identified 27 genomic loci jointly associated with the two diseases regions that contain different causal variants influencing each trait independently. This study provides evidence of a small genetic correlation and relationship between the genetic risk of melanoma in females and endometriosis. Genetic risk does not equate to disease occurrence and differences in the pathogenesis and age of onset of both diseases means it is unlikely that occurrence of melanoma causes endometriosis. This study instead provides evidence that having an increased genetic risk for melanoma in females is related to increased risk of endometriosis. Larger GWAS studies with increased power will be required to further investigate these associations. Frontiers Media S.A. 2021-08-02 /pmc/articles/PMC9580819/ /pubmed/36304021 http://dx.doi.org/10.3389/frph.2021.711123 Text en Copyright © 2021 Yang, Mortlock, MacGregor, Iles, Landi, Shi, Law and Montgomery. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Reproductive Health
Yang, Fei
Mortlock, Sally
MacGregor, Stuart
Iles, Mark M.
Landi, Maria Teresa
Shi, Jianxin
Law, Matthew H.
Montgomery, Grant W.
Genetic Relationship Between Endometriosis and Melanoma
title Genetic Relationship Between Endometriosis and Melanoma
title_full Genetic Relationship Between Endometriosis and Melanoma
title_fullStr Genetic Relationship Between Endometriosis and Melanoma
title_full_unstemmed Genetic Relationship Between Endometriosis and Melanoma
title_short Genetic Relationship Between Endometriosis and Melanoma
title_sort genetic relationship between endometriosis and melanoma
topic Reproductive Health
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9580819/
https://www.ncbi.nlm.nih.gov/pubmed/36304021
http://dx.doi.org/10.3389/frph.2021.711123
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