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@article{Kelemen:2018:10.3390/ijms19092473,
author = {Kelemen, LE and Earp, M and Fridley, BL and Chenevix-Trench, G and Australian, Ovarian Cancer Study Group and Fasching, PA and Beckmann, MW and Ekici, AB and Hein, A and Lambrechts, D and Lambrechts, S and Van, Nieuwenhuysen E and Vergote, I and Rossing, MA and Doherty, JA and Chang-Claude, J and Behrens, S and Moysich, KB and Cannioto, R and Lele, S and Odunsi, K and Goodman, MT and Shvetsov, YB and Thompson, PJ and Wilkens, LR and Dörk, T and Antonenkova, N and Bogdanova, N and Hillemanns, P and Runnebaum, IB and du, Bois A and Harter, P and Heitz, F and Schwaab, I and Butzow, R and Pelttari, LM and Nevanlinna, H and Modugno, F and Edwards, RP and Kelley, JL and Ness, RB and Karlan, BY and Lester, J and Orsulic, S and Walsh, C and Kjaer, SK and Jensen, A and Cunningham, JM and Vierkant, RA and Giles, GG and Bruinsma, F and Southey, MC and Hildebrandt, MAT and Liang, D and Lu, K and Wu, X and Sellers, TA and Levine, DA and Schildkraut, JM and Iversen, ES and Terry, KL and Cramer, DW a},
doi = {10.3390/ijms19092473},
journal = {International Journal of Molecular Sciences},
title = {rs495139 in the TYMS-ENOSF1 region and risk of Ovarian carcinoma of mucinous histologo},
url = {http://dx.doi.org/10.3390/ijms19092473},
volume = {19},
year = {2018}
}

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TY  - JOUR
AB  - Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported association between rs495139 in the TYMS-ENOSF1 3' gene region and increased risk of mucinous ovarian carcinoma (MOC) in an independent sample. Genotypes from 24,351 controls to 15,000 women with invasive OC, including 665 MOC, were available. We estimated per-allele odds ratios (OR) and 95% confidence intervals (CI) using unconditional logistic regression, and meta-analysis when combining these data with our previous report. The association between rs495139 and MOC was not significant in the independent sample (OR = 1.09; 95% CI = 0.971.22; p = 0.15; N = 665 cases). Meta-analysis suggested a weak association (OR = 1.13; 95% CI = 1.031.24; p = 0.01; N = 1019 cases). No significant association with risk of other OC histologic types was observed (p = 0.05 for tumor heterogeneity). In expression quantitative trait locus (eQTL) analysis, the rs495139 allele was positively associated with ENOSF1 mRNA expression in normal tissues of the gastrointestinal system, particularly esophageal mucosa (r = 0.51, p = 1.7 × 10-28), and nonsignificantly in five MOC tumors. The association results, along with inconclusive tumor eQTL findings, suggest that a true effect of rs495139 might be small.
AU  - Kelemen,LE
AU  - Earp,M
AU  - Fridley,BL
AU  - Chenevix-Trench,G
AU  - Australian,Ovarian Cancer Study Group
AU  - Fasching,PA
AU  - Beckmann,MW
AU  - Ekici,AB
AU  - Hein,A
AU  - Lambrechts,D
AU  - Lambrechts,S
AU  - Van,Nieuwenhuysen E
AU  - Vergote,I
AU  - Rossing,MA
AU  - Doherty,JA
AU  - Chang-Claude,J
AU  - Behrens,S
AU  - Moysich,KB
AU  - Cannioto,R
AU  - Lele,S
AU  - Odunsi,K
AU  - Goodman,MT
AU  - Shvetsov,YB
AU  - Thompson,PJ
AU  - Wilkens,LR
AU  - Dörk,T
AU  - Antonenkova,N
AU  - Bogdanova,N
AU  - Hillemanns,P
AU  - Runnebaum,IB
AU  - du,Bois A
AU  - Harter,P
AU  - Heitz,F
AU  - Schwaab,I
AU  - Butzow,R
AU  - Pelttari,LM
AU  - Nevanlinna,H
AU  - Modugno,F
AU  - Edwards,RP
AU  - Kelley,JL
AU  - Ness,RB
AU  - Karlan,BY
AU  - Lester,J
AU  - Orsulic,S
AU  - Walsh,C
AU  - Kjaer,SK
AU  - Jensen,A
AU  - Cunningham,JM
AU  - Vierkant,RA
AU  - Giles,GG
AU  - Bruinsma,F
AU  - Southey,MC
AU  - Hildebrandt,MAT
AU  - Liang,D
AU  - Lu,K
AU  - Wu,X
AU  - Sellers,TA
AU  - Levine,DA
AU  - Schildkraut,JM
AU  - Iversen,ES
AU  - Terry,KL
AU  - Cramer,DW
AU  - Tworoger,SS
AU  - Poole,EM
AU  - Bandera,EV
AU  - Olson,SH
AU  - Orlow,I
AU  - Vestrheim,Thomsen LC
AU  - Bjorge,L
AU  - Krakstad,C
AU  - Tangen,IL
AU  - Kiemeney,LA
AU  - Aben,KKH
AU  - Massuger,LFAG
AU  - van,Altena AM
AU  - Pejovic,T
AU  - Bean,Y
AU  - Kellar,M
AU  - Cook,LS
AU  - Le,ND
AU  - Brooks-Wilson,A
AU  - Gronwald,J
AU  - Cybulski,C
AU  - Jakubowska,A
AU  - Lubiski,J
AU  - Wentzensen,N
AU  - Brinton,LA
AU  - Lissowska,J
AU  - Hogdall,E
AU  - Engelholm,SA
AU  - Hogdall,C
AU  - Lundvall,L
AU  - Nedergaard,L
AU  - Pharoah,PDP
AU  - Dicks,E
AU  - Song,H
AU  - Tyrer,JP
AU  - McNeish,I
AU  - Siddiqui,N
AU  - Carty,K
AU  - Glasspool,R
AU  - Paul,J
AU  - Campbell,IG
AU  - Eccles,D
AU  - Whittemore,AS
AU  - McGuire,V
AU  - Rothstein,JH
AU  - Sieh,W
AU  - Narod,SA
AU  - Phelan,CM
AU  - McLaughlin,JR
AU  - Risch,HA
AU  - Anton-Culver,H
AU  - Ziogas,A
AU  - Menon,U
AU  - Gayther,SA
AU  - Gentry-Maharaj,A
AU  - Ramus,SJ
AU  - Wu,AH
AU  - Pearce,CL
AU  - Lee,AW
AU  - Pike,MC
AU  - Kupryjanczyk,J
AU  - Podgorska,A
AU  - Plisiecka-Halasa,J
AU  - Sawicki,W
AU  - Goode,EL
AU  - Berchuck,A
AU  - Ovarian,Cancer Association Consortium
DO  - 10.3390/ijms19092473
PY  - 2018///
SN  - 1422-0067
TI  - rs495139 in the TYMS-ENOSF1 region and risk of Ovarian carcinoma of mucinous histologo
T2  - International Journal of Molecular Sciences
UR  - http://dx.doi.org/10.3390/ijms19092473
UR  - https://www.ncbi.nlm.nih.gov/pubmed/30134598
UR  - http://hdl.handle.net/10044/1/63373
VL  - 19
ER  -

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