Gene: TERT

Alternate names for this Gene: CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT

Gene Summary: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: telomerase reverse transcriptase

Type of Gene: protein-coding

rs2735940 in TERT gene and Adenocarcinoma of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2736100 in TERT gene and Adenocarcinoma of lung (disorder) PMID 20871597 2010 The combined analyses identified two susceptibility loci for lung adenocarcinoma: TERT (rs2736100, combined P = 2.91 × 10⁻¹¹), odds ratio (OR) = 1.27) and TP63 (rs10937405, combined P = 7.26 × 10⁻¹²), OR = 1.31).

PMID 27501781 2016 Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.

PMID 20700438 2010 Since most women in Asia do not smoke, we conducted a genome-wide association study of lung adenocarcinoma in never-smoking females (584 cases, 585 controls) among Han Chinese in Taiwan and found that the most significant association was for rs2736100 on chromosome 5p15.33 (p = 1.30 x 10(-11)).

PMID 22797724 2012 A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.

PMID 19836008 2009 A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

PMID 27393504 2016 Genome-wide association study confirms lung cancer susceptibility loci on chromosomes 5p15 and 15q25 in an African-American population.

PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.

PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2735940 in TERT gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs121918661 in TERT gene and Aplastic Anemia PMID 16627250 2006 Mutations in telomerase catalytic protein in Japanese children with aplastic anemia.

PMID 19760749 2009 Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.

PMID 15885610 2005 Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

PMID 16990594 2007 Functional characterization of natural telomerase mutations found in patients with hematologic disorders.

rs2853677 in TERT gene and Benign Prostatic Hyperplasia PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs7705526 in TERT gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs10069690 in TERT gene and Breast Carcinoma PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 29058716 2017 Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

PMID 22037553 2011 We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)).

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 27117709 2016 Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2735940 in TERT gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2735940 in TERT gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2735940 in TERT gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2735940 in TERT gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2736100 in TERT gene and Carcinoma of lung PMID 23143601 2012 Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.

PMID 21725308 2011 The combined analyses identified six well-replicated SNPs with independent effects and significant lung cancer associations (P < 5.0 × 10(-8)) located in TP63 (rs4488809 at 3q28, P = 7.2 × 10(-26)), TERT-CLPTM1L (rs465498 and rs2736100 at 5p15.33, P = 1.2 × 10(-20) and P = 1.0 × 10(-27), respectively), MIPEP-TNFRSF19 (rs753955 at 13q12.12, P = 1.5 × 10(-12)) and MTMR3-HORMAD2-LIF (rs17728461 and rs36600 at 22q12.2, P = 1.1 × 10(-11) and P = 6.2 × 10(-13), respectively).

PMID 27393504 2016 The association with rs2853677 is driven by the adenocarcinoma subtype of lung cancer (p=1.3×10(-8); OR=1.37; 95% CI=1.23-1.54).

PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs10069690 in TERT gene and Central Nervous System Neoplasms PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 24908248 2014 Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.

PMID 22886559 2012 Genome-wide association study of glioma and meta-analysis.

PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

PMID 21827660 2011 Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.

PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

rs10069690 in TERT gene and Chronic Lymphocytic Leukemia PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

PMID 28165464 2017 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

rs2735940 in TERT gene and Colorectal Carcinoma PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2735940 in TERT gene and Colorectal Neoplasms PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs121918665 in TERT gene and DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 15885610 2005 Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

PMID 16247010 2005 Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

PMID 29483670 2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

rs7725218 in TERT gene and Endometrioid carcinoma ovary PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs7705526 in TERT gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs10069690 in TERT gene and Epithelial ovarian cancer PMID 25581431 2015 Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

rs2736100 in TERT gene and Finding of Mean Corpuscular Hemoglobin PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10069690 in TERT gene and Glioblastoma PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs10069690 in TERT gene and Glioblastoma Multiforme PMID 30152087 2018 Age-specific genome-wide association study in glioblastoma identifies increased proportion of 'lower grade glioma'-like features associated with younger age.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

rs10069690 in TERT gene and Glioma PMID 26424050 2015 Genome-wide association study identifies multiple susceptibility loci for glioma.

PMID 29743610 2018 Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.

PMID 28346443 2017 Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.

PMID 19578367 2009 We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).

PMID 21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.

PMID 22886559 2012 Genome-wide association study of glioma and meta-analysis.

PMID 30714141 2019 Two novel genetic variants in the STK38L and RAB27A genes are associated with glioma susceptibility.

PMID 21827660 2011 Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.

PMID 24908248 2014 Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.

PMID 19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.

rs7705526 in TERT gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7705526 in TERT gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2736100 in TERT gene and Idiopathic Pulmonary Fibrosis PMID 18835860 2008 A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis.

rs1554040964 in TERT gene and Liver carcinoma PMID 23000435 2013 Liver transplantation for hepatocellular carcinoma in a patient with a novel telomerase mutation and steatosis.

PMID 28677271 2017 Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

rs2853677 in TERT gene and Lower Urinary Tract Symptoms PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs10069690 in TERT gene and Lung Diseases, Interstitial PMID 23583980 2013 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.

rs10069690 in TERT gene and Lupus Erythematosus, Systemic PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs10069690 in TERT gene and Malignant Testicular Germ Cell Tumor PMID 20543847 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

rs10069690 in TERT gene and Malignant neoplasm of breast PMID 22037553 2011 We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)).

PMID 23535733 2013 Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs2735940 in TERT gene and Malignant neoplasm of large intestine PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2736100 in TERT gene and Malignant neoplasm of lung PMID 22899653 2012 Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.

PMID 23143601 2012 Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.

PMID 21725308 2011 The combined analyses identified six well-replicated SNPs with independent effects and significant lung cancer associations (P < 5.0 × 10(-8)) located in TP63 (rs4488809 at 3q28, P = 7.2 × 10(-26)), TERT-CLPTM1L (rs465498 and rs2736100 at 5p15.33, P = 1.2 × 10(-20) and P = 1.0 × 10(-27), respectively), MIPEP-TNFRSF19 (rs753955 at 13q12.12, P = 1.5 × 10(-12)) and MTMR3-HORMAD2-LIF (rs17728461 and rs36600 at 22q12.2, P = 1.1 × 10(-11) and P = 6.2 × 10(-13), respectively).

rs2242652 in TERT gene and Malignant neoplasm of prostate PMID 21743467 2011 Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.

rs2735940 in TERT gene and Malignant tumor of colon PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs2736100 in TERT gene and Mean Corpuscular Volume (result) PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs72709458 in TERT gene and Menorrhagia PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs2736100 in TERT gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs4449583 in TERT gene and Neutrophil count (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13167280 in TERT gene and Non-Small Cell Lung Carcinoma PMID 31326317 2019 Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.

rs10069690 in TERT gene and Ovarian Serous Adenocarcinoma PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs121918661 in TERT gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 PMID 15814878 2005 Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

PMID 17460043 2007 Adult-onset pulmonary fibrosis caused by mutations in telomerase.

PMID 21483807 2011 Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

PMID 21436073 2011 Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

PMID 22512499 2012 Pulmonary fibrosis, bone marrow failure, and telomerase mutation.

PMID 29483670 2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

rs2736098 in TERT gene and Pancreatic carcinoma PMID 25086665 2014 Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.

PMID 29422604 2018 Genome-wide meta-analysis identifies five new susceptibility loci for pancreatic cancer.

PMID 27579533 2016 This analysis, in combination with a two-staged replication in an additional 6,076 case and 7,555 control subjects from the PANcreatic Disease ReseArch (PANDoRA) and Pancreatic Cancer Case-Control (PanC4) Consortia uncovered 3 new pancreatic cancer risk signals marked by single nucleotide polymorphisms (SNPs) rs2816938 at chromosome 1q32.1 (per allele odds ratio (OR) = 1.20, P = 4.88x10 -15), rs10094872 at 8q24.21 (OR = 1.15, P = 3.22x10 -9) and rs35226131 at 5p15.33 (OR = 0.71, P = 1.70x10 -8).

rs2736100 in TERT gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10069690 in TERT gene and Plexiform leiomyoma PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs2242652 in TERT gene and Prostate carcinoma PMID 21743467 2011 Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.

PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

PMID 25939597 2015 Two susceptibility loci identified for prostate cancer aggressiveness.

rs2736098 in TERT gene and Prostate specific antigen measurement PMID 21160077 2010 Overall, we detected a genome-wide significant association between PSA levels and single-nucleotide polymorphisms (SNPs) at six loci: 5p15.33 (rs2736098), 10q11 (rs10993994), 10q26 (rs10788160), 12q24 (rs11067228), 17q12 (rs4430796), and 19q13.33 [rs17632542 (KLK3: I179T)], each with P(combined) <3 × 10(-10).

PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs2736100 in TERT gene and Red Blood Cell Count measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10069690 in TERT gene and Small Lymphocytic Lymphoma PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.

PMID 28165464 2017 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

rs7725218 in TERT gene and Squamous cell carcinoma of lung PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

rs10069690 in TERT gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2736100 in TERT gene and Testicular Germ Cell Tumor PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

PMID 28604732 2017 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

rs2736100 in TERT gene and Testicular Neoplasms PMID 20543847 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

rs10069690 in TERT gene and Thyroid carcinoma PMID 28195142 2017 A genome-wide association study yields five novel thyroid cancer risk loci.

rs10069690 in TERT gene and Triple Negative Breast Neoplasms PMID 24325915 2014 Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer.

rs10069690 in TERT gene and Uterine Fibroids PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31649266 2019 Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

rs4449583 in TERT gene and White Blood Cell Count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs139996880 in TERT gene and melanoma PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.

rs10069690 in TERT gene and ovarian neoplasm PMID 28346442 2017 Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.