Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

T Rafnar; P Sulem; Stacey SN; F Geller; J Gudmundsson; A Sigurdsson; M Jakobsdottir; H Helgadottir; S Thorlacius; Aben KK; T Blöndal; Thorgeirsson TE; G Thorleifsson; K Kristjansson; K Thorisdottir; R Ragnarsson; B Sigurgeirsson; H Skuladottir; T Gudbjartsson; Isaksson HJ; Einarsson GV; Benediktsdottir KR; Agnarsson BA; K Olafsson; A Salvarsdottir; H Bjarnason; M Asgeirsdottir; Kristinsson KT; S Matthiasdottir; Sveinsdottir SG; Silvia POLIDORO; V Höiom; Estrada R Botella; K Hemminki; P Rudnai; Bishop DT; M Campagna; E Kellen; Zeegers MP; P de Verdier; A Ferrer; D Isla; Vidal MJ; R Andres; B Saez; P Juberias; J Banzo; S Navarrete; A Tres; D Kan; A Lindblom; E Gurzau; K Koppova; F de Vegt; Schalken JA; van der Heijden HF; Smit HJ; Termeer RA; E Oosterwijk; O van Hooij; E Nagore; S Porru; G Steineck; J Hansson; F Buntinx; Catalona WJ; Giuseppe MATULLO; Paolo VINEIS; Kiltie AE; Mayordomo JI; R Kumar; Kiemeney LA; Frigge ML; T Jonsson; H Saemundsson; Barkardottir RB; E Jonsson; S Jonsson; Olafsson JH; Gulcher JR; G Masson; Gudbjartsson DF; A Kong; U Thorsteinsdottir; K. Stefansson

doi:10.1038/ng.296

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

T Rafnar
, P Sulem
, Stacey SN
, F Geller
, J Gudmundsson
, A Sigurdsson
, M Jakobsdottir
, H Helgadottir
, S Thorlacius
, Aben KK
, T Blöndal
, Thorgeirsson TE
, G Thorleifsson
, K Kristjansson
, K Thorisdottir
, R Ragnarsson
, B Sigurgeirsson
, H Skuladottir
, T Gudbjartsson
, Isaksson HJ

Einarsson GV, Benediktsdottir KR, Agnarsson BA, K Olafsson, A Salvarsdottir, H Bjarnason, M Asgeirsdottir, Kristinsson KT, S Matthiasdottir, Sveinsdottir SG, Silvia POLIDORO, V Höiom, Estrada R Botella, K Hemminki, P Rudnai, Bishop DT, M Campagna, E Kellen, Zeegers MP, P de Verdier, A Ferrer, D Isla, Vidal MJ, R Andres, B Saez, P Juberias, J Banzo, S Navarrete, A Tres, D Kan, A Lindblom, E Gurzau, K Koppova, F de Vegt, Schalken JA, van der Heijden HF, Smit HJ, Termeer RA, E Oosterwijk, O van Hooij, E Nagore, S Porru, G Steineck, J Hansson, F Buntinx, Catalona WJ, Giuseppe MATULLO, Paolo VINEIS, Kiltie AE, Mayordomo JI, R Kumar, Kiemeney LA, Frigge ML, T Jonsson, H Saemundsson, Barkardottir RB, E Jonsson, S Jonsson, Olafsson JH, Gulcher JR, G Masson, Gudbjartsson DF, A Kong, U Thorsteinsdottir, K. Stefansson

Dipartimento di Medicina Traslazionale

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer review

Abstract

The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene

Lingua originale	Inglese
pagine (da-a)	221-227
Numero di pagine	7
Rivista	Nature Genetics
Volume	41
Numero di pubblicazione	2
DOI	https://doi.org/10.1038/ng.296
Stato di pubblicazione	Pubblicato - 2009

OSS delle Nazioni Unite

Questo processo contribuisce al raggiungimento dei seguenti obiettivi di sviluppo sostenibile

SDG 3 Salute e benessere

Keywords

cancer
genome-wide association study
TERT
CLPTM1L

Accesso al documento

10.1038/ng.296

https://hdl.handle.net/11579/223183

Altri file e collegamenti

handle

Cita questo

Rafnar, T., Sulem, P., SN, S., Geller, F., Gudmundsson, J., Sigurdsson, A., Jakobsdottir, M., Helgadottir, H., Thorlacius, S., KK, A., Blöndal, T., TE, T., Thorleifsson, G., Kristjansson, K., Thorisdottir, K., Ragnarsson, R., Sigurgeirsson, B., Skuladottir, H., Gudbjartsson, T., ... Stefansson, K. (2009). Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. Nature Genetics, 41(2), 221-227. https://doi.org/10.1038/ng.296

@article{6506644989b94a73831d08ed125f5877,

title = "Sequence variants at the TERT-CLPTM1L locus associate with many cancer types",

abstract = "The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene",

keywords = "cancer, genome-wide association study, TERT, CLPTM1L, cancer, genome-wide association study, TERT, CLPTM1L",

author = "T Rafnar and P Sulem and Stacey SN and F Geller and J Gudmundsson and A Sigurdsson and M Jakobsdottir and H Helgadottir and S Thorlacius and Aben KK and T Bl{\"o}ndal and Thorgeirsson TE and G Thorleifsson and K Kristjansson and K Thorisdottir and R Ragnarsson and B Sigurgeirsson and H Skuladottir and T Gudbjartsson and Isaksson HJ and Einarsson GV and Benediktsdottir KR and Agnarsson BA and K Olafsson and A Salvarsdottir and H Bjarnason and M Asgeirsdottir and Kristinsson KT and S Matthiasdottir and Sveinsdottir SG and Silvia POLIDORO and V H{\"o}iom and Botella, \{Estrada R\} and K Hemminki and P Rudnai and Bishop DT and M Campagna and E Kellen and Zeegers MP and \{de Verdier\}, P and A Ferrer and D Isla and Vidal MJ and R Andres and B Saez and P Juberias and J Banzo and S Navarrete and A Tres and D Kan and A Lindblom and E Gurzau and K Koppova and \{de Vegt\}, F and Schalken JA and HF, \{van der Heijden\} and Smit HJ and Termeer RA and E Oosterwijk and \{van Hooij\}, O and E Nagore and S Porru and G Steineck and J Hansson and F Buntinx and Catalona WJ and Giuseppe MATULLO and Paolo VINEIS and Kiltie AE and Mayordomo JI and R Kumar and Kiemeney LA and Frigge ML and T Jonsson and H Saemundsson and Barkardottir RB and E Jonsson and S Jonsson and Olafsson JH and Gulcher JR and G Masson and Gudbjartsson DF and A Kong and U Thorsteinsdottir and K. Stefansson",

year = "2009",

doi = "10.1038/ng.296",

language = "English",

volume = "41",

pages = "221--227",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "2",

}

Rafnar, T, Sulem, P, SN, S, Geller, F, Gudmundsson, J, Sigurdsson, A, Jakobsdottir, M, Helgadottir, H, Thorlacius, S, KK, A, Blöndal, T, TE, T, Thorleifsson, G, Kristjansson, K, Thorisdottir, K, Ragnarsson, R, Sigurgeirsson, B, Skuladottir, H, Gudbjartsson, T, HJ, I, GV, E, KR, B, BA, A, Olafsson, K, Salvarsdottir, A, Bjarnason, H, Asgeirsdottir, M, KT, K, Matthiasdottir, S, SG, S, POLIDORO, S, Höiom, V, Botella, ER, Hemminki, K, Rudnai, P, DT, B, Campagna, M, Kellen, E, MP, Z, de Verdier, P, Ferrer, A, Isla, D, MJ, V, Andres, R, Saez, B, Juberias, P, Banzo, J, Navarrete, S, Tres, A, Kan, D, Lindblom, A, Gurzau, E, Koppova, K, de Vegt, F, JA, S, HF, VDH, HJ, S, RA, T, Oosterwijk, E, van Hooij, O, Nagore, E, Porru, S, Steineck, G, Hansson, J, Buntinx, F, WJ, C, MATULLO, G, VINEIS, P, AE, K, JI, M, Kumar, R, LA, K, ML, F, Jonsson, T, Saemundsson, H, RB, B, Jonsson, E, Jonsson, S, JH, O, JR, G, Masson, G, DF, G, Kong, A, Thorsteinsdottir, U & Stefansson, K 2009, 'Sequence variants at the TERT-CLPTM1L locus associate with many cancer types', Nature Genetics, vol. 41, n. 2, pagg. 221-227. https://doi.org/10.1038/ng.296

TY - JOUR

T1 - Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

AU - Rafnar, T

AU - Sulem, P

AU - SN, Stacey

AU - Geller, F

AU - Gudmundsson, J

AU - Sigurdsson, A

AU - Jakobsdottir, M

AU - Helgadottir, H

AU - Thorlacius, S

AU - KK, Aben

AU - Blöndal, T

AU - TE, Thorgeirsson

AU - Thorleifsson, G

AU - Kristjansson, K

AU - Thorisdottir, K

AU - Ragnarsson, R

AU - Sigurgeirsson, B

AU - Skuladottir, H

AU - Gudbjartsson, T

AU - HJ, Isaksson

AU - GV, Einarsson

AU - KR, Benediktsdottir

AU - BA, Agnarsson

AU - Olafsson, K

AU - Salvarsdottir, A

AU - Bjarnason, H

AU - Asgeirsdottir, M

AU - KT, Kristinsson

AU - Matthiasdottir, S

AU - SG, Sveinsdottir

AU - POLIDORO, Silvia

AU - Höiom, V

AU - Botella, Estrada R

AU - Hemminki, K

AU - Rudnai, P

AU - DT, Bishop

AU - Campagna, M

AU - Kellen, E

AU - MP, Zeegers

AU - de Verdier, P

AU - Ferrer, A

AU - Isla, D

AU - MJ, Vidal

AU - Andres, R

AU - Saez, B

AU - Juberias, P

AU - Banzo, J

AU - Navarrete, S

AU - Tres, A

AU - Kan, D

AU - Lindblom, A

AU - Gurzau, E

AU - Koppova, K

AU - de Vegt, F

AU - JA, Schalken

AU - HF, van der Heijden

AU - HJ, Smit

AU - RA, Termeer

AU - Oosterwijk, E

AU - van Hooij, O

AU - Nagore, E

AU - Porru, S

AU - Steineck, G

AU - Hansson, J

AU - Buntinx, F

AU - WJ, Catalona

AU - MATULLO, Giuseppe

AU - VINEIS, Paolo

AU - AE, Kiltie

AU - JI, Mayordomo

AU - Kumar, R

AU - LA, Kiemeney

AU - ML, Frigge

AU - Jonsson, T

AU - Saemundsson, H

AU - RB, Barkardottir

AU - Jonsson, E

AU - Jonsson, S

AU - JH, Olafsson

AU - JR, Gulcher

AU - Masson, G

AU - DF, Gudbjartsson

AU - Kong, A

AU - Thorsteinsdottir, U

AU - Stefansson, K.

PY - 2009

Y1 - 2009

N2 - The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene

AB - The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene

KW - cancer

KW - genome-wide association study

KW - TERT

KW - CLPTM1L

KW - cancer

KW - genome-wide association study

KW - TERT

KW - CLPTM1L

UR - https://iris.uniupo.it/handle/11579/223183

U2 - 10.1038/ng.296

DO - 10.1038/ng.296

M3 - Article

SN - 1061-4036

VL - 41

SP - 221

EP - 227

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types

Abstract

OSS delle Nazioni Unite

Keywords

Accesso al documento

Altri file e collegamenti

Fingerprint

Cita questo