{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T14:33:04Z","timestamp":1776954784108,"version":"3.51.4"},"reference-count":64,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,4,28]],"date-time":"2021-04-28T00:00:00Z","timestamp":1619568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Xeroderma pigmentosum complementation group C (XPC), a DNA repair protein, plays an important role in the maintenance of genomic integrity and is essential for the nucleotide excision repair pathway. Polymorphisms in the <jats:italic>XPC<\/jats:italic> gene may alter DNA repair leading to genetic instability and oncogenesis. The present study aimed to assess the relationship between the <jats:italic>XPC<\/jats:italic> Ala499Val (rs2228000 C&gt;T) and Lys939Gln (rs2228001 A&gt;C) non\u2010synonymous polymorphisms and susceptibility to chronic myeloid leukemia (CML) pathogenesis, disease progression and the response to targeted therapeutic regimen, imatinib mesylate.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This case\u2013control study included 212 cases and 212 controls, and the genotypes were determined by polymerase chain reaction\u2010restriction fragment length polymorphism assays.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our results showed significant association of variant CT (odds ratio\u2009=\u20091.92, 95% confidence interval\u2009=\u20091.21\u20133.06, <jats:italic>p\u2009=<\/jats:italic>\u00a00.003) and TT (odds ratio\u2009=\u20092.84, 95% confidence interval\u2009=\u20091.22\u20136.71, <jats:italic>p\u2009=<\/jats:italic>\u00a00.007) genotypes in patients with the <jats:italic>XPC<\/jats:italic> Ala499Val polymorphism and CML risk. In addition, these genotypes were associated with CML progression to advanced phases (<jats:italic>p\u2009=<\/jats:italic>\u00a00.006), splenomegaly (<jats:italic>p\u2009=<\/jats:italic>\u00a00.017) and abnormal lactate dehydrogenase levels (<jats:italic>p\u2009=<\/jats:italic>\u00a00.03). <jats:italic>XPC<\/jats:italic> Lys939Gln was found to correlate with a poor response to therapy, showing borderline significant association with minor cytogenetic response (<jats:italic>p\u2009=<\/jats:italic>\u00a00.08) and a poor molecular response (<jats:italic>p\u2009=<\/jats:italic>\u00a00.06). Significant association of the Ala499Val and Lys939Gln polymorphisms with prognosis was observed (Hasford high risk, <jats:italic>p<\/jats:italic>\u2009=\u20090.031 and <jats:italic>p<\/jats:italic> = 0.019, respectively). Haplotype analysis showed a strong correlation of variant TC haplotype with poor therapy responses (minor cytogenetic response, <jats:italic>p<\/jats:italic>\u2009=\u20090.019; poor molecular response, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In conclusion, our results suggest that <jats:italic>XPC<\/jats:italic> Ala499Val is a high\u2010penetrance CML susceptibility polymorphism. Both polymorphisms studied are considered as genetic markers with respect to assessing disease progression, therapy response and prognosis in CML patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jgm.3339","type":"journal-article","created":{"date-parts":[[2021,4,8]],"date-time":"2021-04-08T09:49:40Z","timestamp":1617875380000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Association of DNA repair gene <i>XPC<\/i> Ala499Val (rs2228000 C&gt;T) and Lys939Gln (rs2228001 A&gt;C) polymorphisms with the risk of chronic myeloid leukemia: A case\u2013control study in a South Indian population"],"prefix":"10.1002","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9568-450X","authenticated-orcid":false,"given":"Samyuktha","family":"Lakkireddy","sequence":"first","affiliation":[{"name":"Centre for Biotechnology and Bioinformatics School of Life Sciences, Jawaharlal Nehru Institute of Advanced Studies (JNIAS)  Hyderabad Telangana India"},{"name":"Department of Biotechnology Jawaharlal Nehru Technological University Anantapur (JNTUA)  Ananthapuramu Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3633-3942","authenticated-orcid":false,"given":"Sangeetha","family":"Aula","sequence":"additional","affiliation":[{"name":"Centre for Biotechnology and Bioinformatics School of Life Sciences, Jawaharlal Nehru Institute of Advanced Studies (JNIAS)  Hyderabad Telangana India"},{"name":"Department of Biotechnology Jawaharlal Nehru Technological University Anantapur (JNTUA)  Ananthapuramu Andhra Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0222-7308","authenticated-orcid":false,"given":"Atya","family":"Kapley","sequence":"additional","affiliation":[{"name":"Centre for Biotechnology and Bioinformatics School of Life Sciences, Jawaharlal Nehru Institute of Advanced Studies (JNIAS)  Hyderabad Telangana India"},{"name":"Environmental Genomics Division, Council of Scientific and Industrial Research\u2010National Environmental Engineering Research Institute (CSIR\u2010NEERI)  Nagpur Maharashtra India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sadashivudu","family":"Gundeti","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology Nizam's Institute of Medical Sciences (NIMS)  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1483-2927","authenticated-orcid":false,"given":"Vijay Kumar","family":"Kutala","sequence":"additional","affiliation":[{"name":"Department of Clinical Pharmacology &amp; Therapeutics Nizam's Institute of Medical Sciences (NIMS)  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5442-3867","authenticated-orcid":false,"given":"Kaiser","family":"Jamil","sequence":"additional","affiliation":[{"name":"Centre for Biotechnology and Bioinformatics School of Life Sciences, Jawaharlal Nehru Institute of Advanced Studies (JNIAS)  Hyderabad Telangana India"},{"name":"Department of Biotechnology Jawaharlal Nehru Technological University Hyderabad (JNTUH)  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2015.139337"},{"key":"e_1_2_12_3_1","unstructured":"HowladerN NooneAM KrapchoM et al.SEER Cancer Statistics Review 1975\u20102016. 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