Comment on “Mucin gene polymorphisms are associated with endometriosis in Korean women”

Sora Yasri, Viroj Wiwanitkit
Archives of gynecology and obstetrics · 2020 · vol. 302(6) , pp. 1559 · doi:10.1007/s00404-020-05488-4 · PMID:32157416 · W3010704520
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This comment suggests that future endometriosis studies should assess confounding genetic factors beyond MUC1 and MUC4 polymorphisms, such as tumor necrosis factor-α, vitamin D-binding protein, and Interleukin 1 alpha.

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This correspondence is a comment on a prior report by Kim et al. examining mucin gene polymorphisms (MUC1 and MUC4 SNPs) and their association with endometriosis in Korean women, focusing on whether MUC1 genotype correlates with susceptibility and whether MUC4 polymorphisms relate to risk. The commentators argue that while SNPs may change molecular function and thereby alter phenotypic expression, the original analysis considered only MUC1 and MUC4 and may have missed other genetic polymorphisms. They cite examples of other proposed endometriosis-associated variants, including tumor necrosis factor-α, vitamin D-binding protein, and interleukin 1 alpha polymorphisms, and state that potential confounding genetic factors should be assessed in future studies. This paper is centrally about endometriosis — it is a commentary critiquing and contextualizing evidence on mucin gene polymorphisms for endometriosis risk.

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in molecular change, and the molecular change fur - ther results in the alteration of phenotypic expression. This change in, due to either, MUC1 or MUC4 SNPs should affect the final phenotypic expression. Nevertheless, Kim et al. focused on only MUC1 and MUC4 SNPs. There are also other genetic polymorphisms that might associate with endometriosis [2 ]. The examples of those genetic poly - morphisms are tumor necrosis factor-α gene-1031T/C pro- moter, vitamin D-binding protein and Interleukin 1 alpha polymorphisms [3, 4]. The effects of other possible genetic confounding factors should be assessed in the future studies. Compliance with ethical standards Conflict of interest The authors declare no conflict of interest.

References

1. Kim JH, Kim TH, Kim YS, Jang WC, Ryu A, Hwang JY, Lee HH (2019) Mucin gene polymorphisms are associated with endo- metriosis in Korean women. Arch Gynecol Obstet. https ://doi. org/10.1007/s0040 4-019-05409 -0 (Epub ahead of print) 2. Méar L, Herr M, Fauconnier A, Pineau C, Vialard F (2019) Poly- morphisms and endometriosis: a systematic review and meta- analyses. Hum Reprod Update. https ://doi.org/10.1093/humup d/ dmz03 4 (Epub ahead of print) 3. Drakou A, Mavrogianni D, Ntzeros K, Protopapas A, Drakakis P, Loutradis D (2019) Association between tumor necrosis factor-α gene-1031T/C promoter polymorphism and endometriosis in a European population. Horm Mol Biol Clin Investig. https ://doi. org/10.1515/hmbci -2019-0033 4. Cho MC, Kim JH, Jung MH, Cho IA, Jo HC, Shin JK, Lee SA, Choi WJ, Lee JH (2019) Analysis of vitamin D-binding protein (VDBP) gene polymorphisms in Korean women with and without endometriosis. Clin Exp Reprod Med 46(3):132–139 5. Badie A, Saliminejad K, Salahshourifar I, Khorram Khorshid HR (2019) Interleukin 1 alpha (IL1A) polymorphisms and risk of endometriosis in Iranian population: a case–control study. Gynecol Endocrinol 28:1–4 Publisher’s Note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Sora Yasri and Viroj Wiwanitkit contributed equally. This comment refers to the article available online at https ://doi. org/10.1007/s0040 4-019-05409 -0. * Sora Yasri [email protected] 1 KMT Primary Care Center, Bangkok, Thailand 2 Dr DY Patil University, Pune, India

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Endometriosis Female Gene Frequency Humans Mucins Polymorphism, Genetic Republic of Korea

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