Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder Cancer
<i>CLPTM1L</i> (Cleft Lip and Palate Transmembrane Protein 1-Like) has previously been implicated in tumorigenesis and drug resistance in cancer. However, the genetic link between <i>CLPTM1L</i> and bladder cancer remains uncertain. In this study, we investigated the genetic...
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MDPI AG
2023-12-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/15/1/50 |
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| author | Mi-So Jeong Jeong-Yeon Mun Gi-Eun Yang Min-Hye Kim Sang-Yeop Lee Yung Hyun Choi Heui Soo Kim Jong-Kil Nam Tae Nam Kim Sun-Hee Leem |
| author_facet | Mi-So Jeong Jeong-Yeon Mun Gi-Eun Yang Min-Hye Kim Sang-Yeop Lee Yung Hyun Choi Heui Soo Kim Jong-Kil Nam Tae Nam Kim Sun-Hee Leem |
| author_sort | Mi-So Jeong |
| collection | DOAJ |
| description | <i>CLPTM1L</i> (Cleft Lip and Palate Transmembrane Protein 1-Like) has previously been implicated in tumorigenesis and drug resistance in cancer. However, the genetic link between <i>CLPTM1L</i> and bladder cancer remains uncertain. In this study, we investigated the genetic association of variable number of tandem repeats (VNTR; minisatellites, MS) regions within <i>CLPTM1L</i> with bladder cancer. We identified four <i>CLPTM1L</i>-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 (25–29 repeats) were associated with an elevated bladder cancer risk (odds ratio [OR] = 5.78, 95% confidence interval [CI]: 1.49–22.47, <i>p</i> = 0.004). We confirmed that all MS regions followed Mendelian inheritance, and demonstrated that MS2 alleles increased <i>CLPTM1L</i> promoter activity in the UM-UC3 bladder cancer cells through a luciferase assay. Our findings propose the utility of <i>CLPTM1L</i>-MS regions as DNA typing markers, particularly highlighting the potential of middle-length rare alleles within <i>CLPTM1L</i>-MS2 as predictive markers for bladder cancer risk. |
| first_indexed | 2024-03-08T10:54:16Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-08T10:54:16Z |
| publishDate | 2023-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-6c8631bdaa5f490bb1372b5edf78780f2024-01-26T16:41:42ZengMDPI AGGenes2073-44252023-12-011515010.3390/genes15010050Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder CancerMi-So Jeong0Jeong-Yeon Mun1Gi-Eun Yang2Min-Hye Kim3Sang-Yeop Lee4Yung Hyun Choi5Heui Soo Kim6Jong-Kil Nam7Tae Nam Kim8Sun-Hee Leem9Department of Biomedical Sciences, Dong-A University, Busan 49315, Republic of KoreaDepartment of Biomedical Sciences, Dong-A University, Busan 49315, Republic of KoreaDepartment of Biomedical Sciences, Dong-A University, Busan 49315, Republic of KoreaDepartment of Biomedical Sciences, Dong-A University, Busan 49315, Republic of KoreaResearch Center for Bioconvergence Analysis, Korea Basic Science Institute, Ochang 28119, Republic of KoreaDepartment of Biochemistry, College of Oriental Medicine, Anti-Aging Research Center, Dong-eui University, Busan 47227, Republic of KoreaDepartment of Biological Sciences, College of Natural Sciences, Pusan National University, Busan 46241, Republic of KoreaDepartment 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 KoreaDepartment of Urology, Pusan National University Hospital, Pusan National University School of Medicine, Biomedical Research Institute and Pusan National University Hospital, Busan 49241, Republic of KoreaDepartment of Biomedical Sciences, Dong-A University, Busan 49315, Republic of Korea<i>CLPTM1L</i> (Cleft Lip and Palate Transmembrane Protein 1-Like) has previously been implicated in tumorigenesis and drug resistance in cancer. However, the genetic link between <i>CLPTM1L</i> and bladder cancer remains uncertain. In this study, we investigated the genetic association of variable number of tandem repeats (VNTR; minisatellites, MS) regions within <i>CLPTM1L</i> with bladder cancer. We identified four <i>CLPTM1L</i>-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 (25–29 repeats) were associated with an elevated bladder cancer risk (odds ratio [OR] = 5.78, 95% confidence interval [CI]: 1.49–22.47, <i>p</i> = 0.004). We confirmed that all MS regions followed Mendelian inheritance, and demonstrated that MS2 alleles increased <i>CLPTM1L</i> promoter activity in the UM-UC3 bladder cancer cells through a luciferase assay. Our findings propose the utility of <i>CLPTM1L</i>-MS regions as DNA typing markers, particularly highlighting the potential of middle-length rare alleles within <i>CLPTM1L</i>-MS2 as predictive markers for bladder cancer risk.https://www.mdpi.com/2073-4425/15/1/50<i>CLPTM1L</i>bladder cancerVNTR polymorphismcancer susceptibility |
| spellingShingle | Mi-So Jeong Jeong-Yeon Mun Gi-Eun Yang Min-Hye Kim Sang-Yeop Lee Yung Hyun Choi Heui Soo Kim Jong-Kil Nam Tae Nam Kim Sun-Hee Leem Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder Cancer Genes <i>CLPTM1L</i> bladder cancer VNTR polymorphism cancer susceptibility |
| title | Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder Cancer |
| title_full | Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder Cancer |
| title_fullStr | Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder Cancer |
| title_full_unstemmed | Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder Cancer |
| title_short | Exploring the Relationship between <i>CLPTM1L</i>-MS2 Variants and Susceptibility to Bladder Cancer |
| title_sort | exploring the relationship between i clptm1l i ms2 variants and susceptibility to bladder cancer |
| topic | <i>CLPTM1L</i> bladder cancer VNTR polymorphism cancer susceptibility |
| url | https://www.mdpi.com/2073-4425/15/1/50 |
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