Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India
<h3>Background</h3><p dir="ltr">Telomeres are repetitive DNA sequences located at the ends of chromosomes, playing a vital role in maintaining chromosomal integrity and stability. Dysregulation of telomeres has been implicated in the development of various cancers, includ...
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2023
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| author | Gh. Rasool Bhat (6701726) |
| author2 | Rajeshwer Singh Jamwal (16998941) Itty Sethi (6701723) Amrita Bhat (6737966) Ruchi Shah (6737975) Sonali Verma (6737972) Minerva Sharma (16998944) Hana Q. Sadida (15376385) Sara K. Al-Marzooqi (15376388) Tariq Masoodi (8117702) Sameer Mirza (685921) Mohammad Haris (564809) Muzafar A. Macha (11605200) Ammira S. Alshabeeb Akil (15430143) Ajaz A. Bhat (12984701) Rakesh Kumar (8432) |
| author2_role | author author author author author author author author author author author author author author author |
| author_facet | Gh. Rasool Bhat (6701726) Rajeshwer Singh Jamwal (16998941) Itty Sethi (6701723) Amrita Bhat (6737966) Ruchi Shah (6737975) Sonali Verma (6737972) Minerva Sharma (16998944) Hana Q. Sadida (15376385) Sara K. Al-Marzooqi (15376388) Tariq Masoodi (8117702) Sameer Mirza (685921) Mohammad Haris (564809) Muzafar A. Macha (11605200) Ammira S. Alshabeeb Akil (15430143) Ajaz A. Bhat (12984701) Rakesh Kumar (8432) |
| author_role | author |
| dc.creator.none.fl_str_mv | Gh. Rasool Bhat (6701726) Rajeshwer Singh Jamwal (16998941) Itty Sethi (6701723) Amrita Bhat (6737966) Ruchi Shah (6737975) Sonali Verma (6737972) Minerva Sharma (16998944) Hana Q. Sadida (15376385) Sara K. Al-Marzooqi (15376388) Tariq Masoodi (8117702) Sameer Mirza (685921) Mohammad Haris (564809) Muzafar A. Macha (11605200) Ammira S. Alshabeeb Akil (15430143) Ajaz A. Bhat (12984701) Rakesh Kumar (8432) |
| dc.date.none.fl_str_mv | 2023-09-18T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1186/s12885-023-11387-z |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Associations_between_telomere_attrition_genetic_variants_in_telomere_maintenance_genes_and_non-small_cell_lung_cancer_risk_in_the_Jammu_and_Kashmir_population_of_North_India/25256647 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Oncology and carcinogenesis Biomarker Gene variants Telomere maintenance gene Non-small cell lung cancer Telomere length |
| dc.title.none.fl_str_mv | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">Telomeres are repetitive DNA sequences located at the ends of chromosomes, playing a vital role in maintaining chromosomal integrity and stability. Dysregulation of telomeres has been implicated in the development of various cancers, including non-small cell lung cancer (NSCLC), which is the most common type of lung cancer. Genetic variations within telomere maintenance genes may influence the risk of developing NSCLC. The present study aimed to evaluate the genetic associations of select variants within telomere maintenance genes in a population from Jammu and Kashmir, North India, and to investigate the relationship between telomere length and NSCLC risk.</p><h3>Methods</h3><p dir="ltr">We employed the cost-effective and high-throughput MassARRAY MALDI-TOF platform to assess the genetic associations of select variants within telomere maintenance genes in a population from Jammu and Kashmir, North India. Additionally, we used TaqMan genotyping to validate our results. Furthermore, we investigated telomere length variation and its relation to NSCLC risk in the same population using dual-labeled fluorescence-based qPCR.</p><h3>Results</h3><p dir="ltr">Our findings revealed significant associations of TERT rs10069690 and POT1 rs10228682 with NSCLC risk (adjusted p-values = 0.019 and 0.002, respectively), while TERF2 rs251796 and rs2975843 showed no significant associations. The TaqMan genotyping validation further substantiated the associations of TERT rs10069690 and rs2242652 with NSCLC risk (adjusted p-values = 0.02 and 0.003, respectively). Our results also demonstrated significantly shorter telomere lengths in NSCLC patients compared to controls (p = 0.0004).</p><h3>Conclusion</h3><p dir="ltr">This study highlights the crucial interplay between genetic variation in telomere maintenance genes, telomere attrition, and NSCLC risk in the Jammu and Kashmir population of North India. Our findings suggest that TERT and POT1 gene variants, along with telomere length, may serve as potential biomarkers and therapeutic targets for NSCLC in this population. Further research is warranted to elucidate the underlying mechanisms and to explore the potential clinical applications of these findings.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Cancer<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12885-023-11387-z" target="_blank">https://dx.doi.org/10.1186/s12885-023-11387-z</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_a6d8293a18b80c81403faef0444904cb |
| identifier_str_mv | 10.1186/s12885-023-11387-z |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25256647 |
| publishDate | 2023 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North IndiaGh. Rasool Bhat (6701726)Rajeshwer Singh Jamwal (16998941)Itty Sethi (6701723)Amrita Bhat (6737966)Ruchi Shah (6737975)Sonali Verma (6737972)Minerva Sharma (16998944)Hana Q. Sadida (15376385)Sara K. Al-Marzooqi (15376388)Tariq Masoodi (8117702)Sameer Mirza (685921)Mohammad Haris (564809)Muzafar A. Macha (11605200)Ammira S. Alshabeeb Akil (15430143)Ajaz A. Bhat (12984701)Rakesh Kumar (8432)Biological sciencesGeneticsBiomedical and clinical sciencesOncology and carcinogenesisBiomarkerGene variantsTelomere maintenance geneNon-small cell lung cancerTelomere length<h3>Background</h3><p dir="ltr">Telomeres are repetitive DNA sequences located at the ends of chromosomes, playing a vital role in maintaining chromosomal integrity and stability. Dysregulation of telomeres has been implicated in the development of various cancers, including non-small cell lung cancer (NSCLC), which is the most common type of lung cancer. Genetic variations within telomere maintenance genes may influence the risk of developing NSCLC. The present study aimed to evaluate the genetic associations of select variants within telomere maintenance genes in a population from Jammu and Kashmir, North India, and to investigate the relationship between telomere length and NSCLC risk.</p><h3>Methods</h3><p dir="ltr">We employed the cost-effective and high-throughput MassARRAY MALDI-TOF platform to assess the genetic associations of select variants within telomere maintenance genes in a population from Jammu and Kashmir, North India. Additionally, we used TaqMan genotyping to validate our results. Furthermore, we investigated telomere length variation and its relation to NSCLC risk in the same population using dual-labeled fluorescence-based qPCR.</p><h3>Results</h3><p dir="ltr">Our findings revealed significant associations of TERT rs10069690 and POT1 rs10228682 with NSCLC risk (adjusted p-values = 0.019 and 0.002, respectively), while TERF2 rs251796 and rs2975843 showed no significant associations. The TaqMan genotyping validation further substantiated the associations of TERT rs10069690 and rs2242652 with NSCLC risk (adjusted p-values = 0.02 and 0.003, respectively). Our results also demonstrated significantly shorter telomere lengths in NSCLC patients compared to controls (p = 0.0004).</p><h3>Conclusion</h3><p dir="ltr">This study highlights the crucial interplay between genetic variation in telomere maintenance genes, telomere attrition, and NSCLC risk in the Jammu and Kashmir population of North India. Our findings suggest that TERT and POT1 gene variants, along with telomere length, may serve as potential biomarkers and therapeutic targets for NSCLC in this population. Further research is warranted to elucidate the underlying mechanisms and to explore the potential clinical applications of these findings.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Cancer<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12885-023-11387-z" target="_blank">https://dx.doi.org/10.1186/s12885-023-11387-z</a></p>2023-09-18T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s12885-023-11387-zhttps://figshare.com/articles/journal_contribution/Associations_between_telomere_attrition_genetic_variants_in_telomere_maintenance_genes_and_non-small_cell_lung_cancer_risk_in_the_Jammu_and_Kashmir_population_of_North_India/25256647CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/252566472023-09-18T03:00:00Z |
| spellingShingle | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India Gh. Rasool Bhat (6701726) Biological sciences Genetics Biomedical and clinical sciences Oncology and carcinogenesis Biomarker Gene variants Telomere maintenance gene Non-small cell lung cancer Telomere length |
| status_str | publishedVersion |
| title | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India |
| title_full | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India |
| title_fullStr | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India |
| title_full_unstemmed | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India |
| title_short | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India |
| title_sort | Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India |
| topic | Biological sciences Genetics Biomedical and clinical sciences Oncology and carcinogenesis Biomarker Gene variants Telomere maintenance gene Non-small cell lung cancer Telomere length |