{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T03:05:18Z","timestamp":1765422318084,"version":"build-2065373602"},"reference-count":48,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T00:00:00Z","timestamp":1703721600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea (NRF)","award":["RS-2022-00165842","2023R1A2C1002940"],"award-info":[{"award-number":["RS-2022-00165842","2023R1A2C1002940"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>CLPTM1L (Cleft Lip and Palate Transmembrane Protein 1-Like) has previously been implicated in tumorigenesis and drug resistance in cancer. However, the genetic link between CLPTM1L and bladder cancer remains uncertain. In this study, we investigated the genetic association of variable number of tandem repeats (VNTR; minisatellites, MS) regions within CLPTM1L with bladder cancer. We identified four CLPTM1L-MS regions (MS1~MS4) located in intron regions. To evaluate the VNTR polymorphic alleles, we analyzed 441 cancer-free controls and 181 bladder cancer patients. Our analysis revealed a higher frequency of specific repeat sizes within the MS2 region in bladder cancer cases compared to controls. Notably, 25 and 27 repeats were exclusively present in the bladder cancer group. Moreover, rare alleles within the medium-length repeat range (25\u201329 repeats) were associated with an elevated bladder cancer risk (odds ratio [OR] = 5.78, 95% confidence interval [CI]: 1.49\u201322.47, p = 0.004). We confirmed that all MS regions followed Mendelian inheritance, and demonstrated that MS2 alleles increased CLPTM1L promoter activity in the UM-UC3 bladder cancer cells through a luciferase assay. Our findings propose the utility of CLPTM1L-MS regions as DNA typing markers, particularly highlighting the potential of middle-length rare alleles within CLPTM1L-MS2 as predictive markers for bladder cancer risk.<\/jats:p>","DOI":"10.3390\/genes15010050","type":"journal-article","created":{"date-parts":[[2023,12,28]],"date-time":"2023-12-28T09:56:27Z","timestamp":1703757387000},"page":"50","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Exploring the Relationship between CLPTM1L-MS2 Variants and Susceptibility to Bladder Cancer"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1991-5126","authenticated-orcid":false,"given":"Mi-So","family":"Jeong","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences, Dong-A University, Busan 49315, Republic of Korea"},{"name":"Research Center, Dongnam Institute of Radiological & Medical Sciences (DIRAMS), Busan 46033, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong-Yeon","family":"Mun","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Dong-A University, Busan 49315, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gi-Eun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Dong-A University, Busan 49315, Republic of Korea"},{"name":"Department of Health Sciences, The Graduated of Dong-A University, Busan 49315, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min-Hye","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Dong-A University, Busan 49315, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sang-Yeop","family":"Lee","sequence":"additional","affiliation":[{"name":"Research Center for Bioconvergence Analysis, Korea Basic Science Institute, Ochang 28119, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1454-3124","authenticated-orcid":false,"given":"Yung Hyun","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, College of Oriental Medicine, Anti-Aging Research Center, Dong-eui University, Busan 47227, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heui Soo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 46241, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong-Kil","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Urology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Yangsan 50612, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae Nam","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Urology, Pusan National University Hospital, Pusan National University School of Medicine, Biomedical Research Institute and Pusan National University Hospital, Busan 49241, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun-Hee","family":"Leem","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Dong-A University, Busan 49315, Republic of Korea"},{"name":"Department of Health Sciences, The Graduated of Dong-A University, Busan 49315, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.3322\/caac.21660","article-title":"Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries","volume":"71","author":"Sung","year":"2021","journal-title":"CA Cancer J. 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