{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:43:56Z","timestamp":1760035436902,"version":"build-2065373602"},"reference-count":35,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2025,7,9]],"date-time":"2025-07-09T00:00:00Z","timestamp":1752019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea (NRF)","award":["NRF-2022R1F1A1064169","NRF-2022R1F1A1074986","RS-2023-00246879","HR22C1605"],"award-info":[{"award-number":["NRF-2022R1F1A1064169","NRF-2022R1F1A1074986","RS-2023-00246879","HR22C1605"]}]},{"name":"Korea Health Technology R&amp;D Project through the Korea Health Industry Development Institute (KHIDI)","award":["NRF-2022R1F1A1064169","NRF-2022R1F1A1074986","RS-2023-00246879","HR22C1605"],"award-info":[{"award-number":["NRF-2022R1F1A1064169","NRF-2022R1F1A1074986","RS-2023-00246879","HR22C1605"]}]},{"name":"Ministry of Health and Welfare, Republic of Korea","award":["NRF-2022R1F1A1064169","NRF-2022R1F1A1074986","RS-2023-00246879","HR22C1605"],"award-info":[{"award-number":["NRF-2022R1F1A1064169","NRF-2022R1F1A1074986","RS-2023-00246879","HR22C1605"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Recurrent pregnancy loss (RPL) is defined as the occurrence of two or more consecutive pregnancy losses before 20 weeks of gestation, encompassing both embryonic and fetal losses. Although previous studies have provided substantial insights into RPL, the causes in many cases remain unexplained. This lack of information has prompted continued investigation into various risk factors, including those identified through next-generation sequencing (NGS). In the present study, whole-exome sequencing (WES) was used to identify genes potentially associated with RPL and infertility, which may serve as novel biomarkers. Confirmation of the association between these genetic variants and RPL may help to develop functional biomarkers for early diagnosis. The findings revealed that the PCSK5 rs1110222 G &gt; A polymorphism was significantly associated with a reduced risk of RPL. In contrast, the MUC2 rs10902088 C &gt; T polymorphism was associated with an increased risk of RPL among women with more than four pregnancy losses. Notably, the A-T allele combination of PCSK5 rs1110222 G &gt; A and MUC2 rs10902088 C &gt; T showed a significant association with a decreased risk of RPL relative to the G-C combination. In conclusion, this study confirms that the PCSK5 rs1110222 G &gt; A and MUC2 rs10902088 C &gt; T polymorphisms are genetically associated with the prevalence of RPL in Korean women.<\/jats:p>","DOI":"10.3390\/ijms26146585","type":"journal-article","created":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T12:46:33Z","timestamp":1752237993000},"page":"6585","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Association of PCSK5 and MUC2 Gene Polymorphisms with Recurrent Pregnancy Loss (RPL)"],"prefix":"10.3390","volume":"26","author":[{"given":"Chang Soo","family":"Ryu","sequence":"first","affiliation":[{"name":"Department of Life Science, Graduate School, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea"},{"name":"Division of Life Sciences, College of Life Sciences, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9864-9777","authenticated-orcid":false,"given":"Ji Hyang","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 13496, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eun Ju","family":"Ko","sequence":"additional","affiliation":[{"name":"Department of Life Science, Graduate School, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyeon Woo","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Life Science, Graduate School, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae Hyun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Life Science, Graduate School, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji Eun","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 13496, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Ran","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 13496, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eun Hee","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, 59 Yatap-ro, Bundang-gu, Seongnam 13496, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0541-3528","authenticated-orcid":false,"given":"Nam Keun","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Life Science, Graduate School, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea"},{"name":"Division of Life Sciences, College of Life Sciences, CHA University, 335 Pangyo-ro, Bundang-gu, Seongnam 13488, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s00439-020-02143-5","article-title":"A genomics approach to females with infertility and recurrent pregnancy loss","volume":"139","author":"Maddirevula","year":"2020","journal-title":"Hum. 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