Abstract
INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age <=50 years.
METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.
RESULTS: We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (Ptrend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (Ptrend = 0.005) but not cases (Ptrend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (Phet = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age >=15 years (ORhet = 0.84, 95% CI 0.75, 0.94; ORhom = 0.81, 95% CI 0.51, 1.30; Ptrend = 0.002) but not for those who had their menarche age <=11 years (ORhet = 1.06, 95% CI 0.95, 1.19, ORhom = 1.07, 95% CI 0.67, 1.72; Ptrend = 0.29).
CONCLUSIONS: To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Breast cancer research : BCR |
| Vol/bind | 16 |
| Udgave nummer | 3 |
| Sider (fra-til) | R51 |
| ISSN | 1465-5411 |
| DOI | |
| Status | Udgivet - 2014 |
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Genetic variation at CYP3A is associated with age at menarche and breast cancer risk : a case-control study. / Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael E; Schoemaker, Minouk J; Folkerd, Elizabeth J; Haynes, Ben P; Hopper, John L; Southey, Melissa C; Dite, Gillian S; Apicella, Carmel; Schmidt, Marjanka K; Broeks, Annegien; Van T Veer, Laura J; Atsma, Femke; Muir, Kenneth; Lophatananon, Artitaya; Fasching, Peter A; Beckmann, Matthias W; Ekici, Arif B; Renner, Stefan P; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Guénel, Pascal; Truong, Therese; Cordina, Emilie; Menegaux, Florence; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Milne, Roger; Zamora, M Pilar; Arias Perez, Jose Ignacio; Benitez, Javier; Bernstein, Leslie; Anton-Culver, Hoda; Ziogas, Argyrios; Clarke Dur, Christina; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Dieffenbach, Aida Karina; Meindl, Alfons; Heil, Joerg; Bartram, Claus R; Schmutzler, Rita K; Brauch, Hiltrud; Justenhoven, Christina; Ko, Yon-Dschun; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Dörk, Thilo; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Chenevix-Trench, Georgia; Beesley, Jonathan; Wu, Anna H; Van den Berg, David; Tseng, Chiu-Chen; Lambrechts, Diether; Smeets, Dominiek; Neven, Patrick; Wildiers, Hans; Chang-Claude, Jenny; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Bonanni, Bernardo; Pensotti, Valeria; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; Haiman, Chris; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Soucy, Penny; Teo, Soo; Yip, Cheng Har; Phuah, Sze Yee; Cornes, Belinda K; Kristensen, Vessela N; Grenaker Alnæs, Grethe; Børresen-Dale, Anne-Lise; Zheng, Wei; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Devillee, Peter; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Sherman, Mark E; Hall, Per; Schoof, Nils; Hooning, Maartje; Hollestelle, Antoinette; Oldenburg, Rogier A; Tilanus-Linthorst, Madeleine; Liu, Jianjun; Cox, Angie; Brock, Ian W; Reed, Malcolm Wr; Cross, Simon S; Blot, William; Signorello, Lisa B; Pharoah, Paul Dp; Dunning, Alison M; Shah, Mitul; Kang, Daehee; Noh, Dong-Young; Park, Sue K; Choi, Ji-Yeob; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Försti, Asta; Rüdiger, Thomas; Ulmer, Hans Ulrich; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Slager, Susan; Toland, Amanda E; Vachon, Celine; Yannoukakos, Drakoulis; Shen, Chen-Yang; Yu, Jyh-Cherng; Huang, Chiun-Sheng; Hou, Ming-Feng; González-Neira, Anna; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Jean; Easton, Douglas F; García-Closas, Montserrat; Dowsett, Mitch; Ashworth, Alan; Swerdlow, Anthony J; Peto, Julian; Dos Santos Silva, Isabel; Fletcher, Olivia.
I: Breast cancer research : BCR, Bind 16, Nr. 3, 2014, s. R51.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
}
TY - JOUR
T1 - Genetic variation at CYP3A is associated with age at menarche and breast cancer risk
T2 - a case-control study
AU - Johnson, Nichola
AU - Dudbridge, Frank
AU - Orr, Nick
AU - Gibson, Lorna
AU - Jones, Michael E
AU - Schoemaker, Minouk J
AU - Folkerd, Elizabeth J
AU - Haynes, Ben P
AU - Hopper, John L
AU - Southey, Melissa C
AU - Dite, Gillian S
AU - Apicella, Carmel
AU - Schmidt, Marjanka K
AU - Broeks, Annegien
AU - Van T Veer, Laura J
AU - Atsma, Femke
AU - Muir, Kenneth
AU - Lophatananon, Artitaya
AU - Fasching, Peter A
AU - Beckmann, Matthias W
AU - Ekici, Arif B
AU - Renner, Stefan P
AU - Sawyer, Elinor
AU - Tomlinson, Ian
AU - Kerin, Michael
AU - Miller, Nicola
AU - Burwinkel, Barbara
AU - Marme, Frederik
AU - Schneeweiss, Andreas
AU - Sohn, Christof
AU - Guénel, Pascal
AU - Truong, Therese
AU - Cordina, Emilie
AU - Menegaux, Florence
AU - Bojesen, Stig E
AU - Nordestgaard, Børge G
AU - Flyger, Henrik
AU - Milne, Roger
AU - Zamora, M Pilar
AU - Arias Perez, Jose Ignacio
AU - Benitez, Javier
AU - Bernstein, Leslie
AU - Anton-Culver, Hoda
AU - Ziogas, Argyrios
AU - Clarke Dur, Christina
AU - Brenner, Hermann
AU - Müller, Heiko
AU - Arndt, Volker
AU - Dieffenbach, Aida Karina
AU - Meindl, Alfons
AU - Heil, Joerg
AU - Bartram, Claus R
AU - Schmutzler, Rita K
AU - Brauch, Hiltrud
AU - Justenhoven, Christina
AU - Ko, Yon-Dschun
AU - Nevanlinna, Heli
AU - Muranen, Taru A
AU - Aittomäki, Kristiina
AU - Blomqvist, Carl
AU - Matsuo, Keitaro
AU - Dörk, Thilo
AU - Bogdanova, Natalia V
AU - Antonenkova, Natalia N
AU - Lindblom, Annika
AU - Mannermaa, Arto
AU - Kataja, Vesa
AU - Kosma, Veli-Matti
AU - Hartikainen, Jaana M
AU - Chenevix-Trench, Georgia
AU - Beesley, Jonathan
AU - Wu, Anna H
AU - Van den Berg, David
AU - Tseng, Chiu-Chen
AU - Lambrechts, Diether
AU - Smeets, Dominiek
AU - Neven, Patrick
AU - Wildiers, Hans
AU - Chang-Claude, Jenny
AU - Rudolph, Anja
AU - Nickels, Stefan
AU - Flesch-Janys, Dieter
AU - Radice, Paolo
AU - Peterlongo, Paolo
AU - Bonanni, Bernardo
AU - Pensotti, Valeria
AU - Couch, Fergus J
AU - Olson, Janet E
AU - Wang, Xianshu
AU - Fredericksen, Zachary
AU - Pankratz, Vernon S
AU - Giles, Graham G
AU - Severi, Gianluca
AU - Baglietto, Laura
AU - Haiman, Chris
AU - Simard, Jacques
AU - Goldberg, Mark S
AU - Labrèche, France
AU - Dumont, Martine
AU - Soucy, Penny
AU - Teo, Soo
AU - Yip, Cheng Har
AU - Phuah, Sze Yee
AU - Cornes, Belinda K
AU - Kristensen, Vessela N
AU - Grenaker Alnæs, Grethe
AU - Børresen-Dale, Anne-Lise
AU - Zheng, Wei
AU - Winqvist, Robert
AU - Pylkäs, Katri
AU - Jukkola-Vuorinen, Arja
AU - Grip, Mervi
AU - Andrulis, Irene L
AU - Knight, Julia A
AU - Glendon, Gord
AU - Mulligan, Anna Marie
AU - Devillee, Peter
AU - Figueroa, Jonine
AU - Chanock, Stephen J
AU - Lissowska, Jolanta
AU - Sherman, Mark E
AU - Hall, Per
AU - Schoof, Nils
AU - Hooning, Maartje
AU - Hollestelle, Antoinette
AU - Oldenburg, Rogier A
AU - Tilanus-Linthorst, Madeleine
AU - Liu, Jianjun
AU - Cox, Angie
AU - Brock, Ian W
AU - Reed, Malcolm Wr
AU - Cross, Simon S
AU - Blot, William
AU - Signorello, Lisa B
AU - Pharoah, Paul Dp
AU - Dunning, Alison M
AU - Shah, Mitul
AU - Kang, Daehee
AU - Noh, Dong-Young
AU - Park, Sue K
AU - Choi, Ji-Yeob
AU - Hartman, Mikael
AU - Miao, Hui
AU - Lim, Wei Yen
AU - Tang, Anthony
AU - Hamann, Ute
AU - Försti, Asta
AU - Rüdiger, Thomas
AU - Ulmer, Hans Ulrich
AU - Jakubowska, Anna
AU - Lubinski, Jan
AU - Jaworska-Bieniek, Katarzyna
AU - Durda, Katarzyna
AU - Sangrajrang, Suleeporn
AU - Gaborieau, Valerie
AU - Brennan, Paul
AU - McKay, James
AU - Slager, Susan
AU - Toland, Amanda E
AU - Vachon, Celine
AU - Yannoukakos, Drakoulis
AU - Shen, Chen-Yang
AU - Yu, Jyh-Cherng
AU - Huang, Chiun-Sheng
AU - Hou, Ming-Feng
AU - González-Neira, Anna
AU - Tessier, Daniel C
AU - Vincent, Daniel
AU - Bacot, Francois
AU - Luccarini, Craig
AU - Dennis, Joe
AU - Michailidou, Kyriaki
AU - Bolla, Manjeet K
AU - Wang, Jean
AU - Easton, Douglas F
AU - García-Closas, Montserrat
AU - Dowsett, Mitch
AU - Ashworth, Alan
AU - Swerdlow, Anthony J
AU - Peto, Julian
AU - Dos Santos Silva, Isabel
AU - Fletcher, Olivia
PY - 2014
Y1 - 2014
N2 - INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age <=50 years.METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.RESULTS: We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (Ptrend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (Ptrend = 0.005) but not cases (Ptrend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (Phet = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age >=15 years (ORhet = 0.84, 95% CI 0.75, 0.94; ORhom = 0.81, 95% CI 0.51, 1.30; Ptrend = 0.002) but not for those who had their menarche age <=11 years (ORhet = 1.06, 95% CI 0.95, 1.19, ORhom = 1.07, 95% CI 0.67, 1.72; Ptrend = 0.29).CONCLUSIONS: To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.
AB - INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age <=50 years.METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.RESULTS: We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (Ptrend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (Ptrend = 0.005) but not cases (Ptrend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (Phet = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age >=15 years (ORhet = 0.84, 95% CI 0.75, 0.94; ORhom = 0.81, 95% CI 0.51, 1.30; Ptrend = 0.002) but not for those who had their menarche age <=11 years (ORhet = 1.06, 95% CI 0.95, 1.19, ORhom = 1.07, 95% CI 0.67, 1.72; Ptrend = 0.29).CONCLUSIONS: To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.
U2 - 10.1186/bcr3662
DO - 10.1186/bcr3662
M3 - Journal article
C2 - 24887515
VL - 16
SP - R51
JO - Breast Cancer Research
JF - Breast Cancer Research
SN - 1465-5411
IS - 3
ER -