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151. Health-related Quality of Life Scale

Author

Paz, Sylvia H., primary, Slotkin, Jerry, additional, McKean-Cowdin, Roberta, additional, Lee, Paul, additional, Owsley, Cynthia, additional, Vitale, Susan, additional, Varma, Rohit, additional, Gershon, Richard, additional, and Hays, Ron D., additional

Published
2013
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152. 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

Author

Ostrom, Quinn T., Kinnersley, Ben, Wrensch, Margaret R., Eckel-Passow, Jeanette E., Armstrong, Georgina, Rice, Terri, Chen, Yanwen, Wiencke, John K., McCoy, Lucie S., Hansen, Helen M., Amos, Christopher I., Bernstein, Jonine L., Claus, Elizabeth B., Il’yasova, Dora, Johansen, Christoffer, Lachance, Daniel H., Lai, Rose K., Merrell, Ryan T., Olson, Sara H., Sadetzki, Siegal, Schildkraut, Joellen M., Shete, Sanjay, Rubin, Joshua B., Lathia, Justin D., Berens, Michael E., Andersson, Ulrika, Rajaraman, Preetha, Chanock, Stephen J., Linet, Martha S., Wang, Zhaoming, Yeager, Meredith, Beane Freeman, Laura E., Koutros, Stella, Albanes, Demetrius, Visvanathan, Kala, Stevens, Victoria L., Henriksson, Roger, Michaud, Dominique S., Feychting, Maria, Ahlbom, Anders, Giles, Graham G., Milne, Roger, McKean-Cowdin, Roberta, Le Marchand, Loic, Stampfer, Meir, Ruder, Avima M., Carreon, Tania, Hallmans, Göran, Zeleniuch-Jacquotte, Anne, Gaziano, J. Michael, Sesso, Howard D., Purdue, Mark P., White, Emily, Peters, Ulrike, Buring, Julie, Houlston, Richard S., Jenkins, Robert B., Melin, Beatrice, Bondy, Melissa L., and Barnholtz-Sloan, Jill. S.

Abstract

Incidence of glioma is approximately 50% higher in males. Previous analyses have examined exposures related to sex hormones in women as potential protective factors for these tumors, with inconsistent results. Previous glioma genome-wide association studies (GWAS) have not stratified by sex. Potential sex-specific genetic effects were assessed in autosomal SNPs and sex chromosome variants for all glioma, GBM and non-GBM patients using data from four previous glioma GWAS. Datasets were analyzed using sex-stratified logistic regression models and combined using meta-analysis. There were 4,831 male cases, 5,216 male controls, 3,206 female cases and 5,470 female controls. A significant association was detected at rs11979158 (7p11.2) in males only. Association at rs55705857 (8q24.21) was stronger in females than in males. A large region on 3p21.31 was identified with significant association in females only. The identified differences in effect of risk variants do not fully explain the observed incidence difference in glioma by sex.

Published
2018
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156. Detectable clonal mosaicism and its relationship to aging and cancer

Author

Jacobs, Kevin B, primary, Yeager, Meredith, additional, Zhou, Weiyin, additional, Wacholder, Sholom, additional, Wang, Zhaoming, additional, Rodriguez-Santiago, Benjamin, additional, Hutchinson, Amy, additional, Deng, Xiang, additional, Liu, Chenwei, additional, Horner, Marie-Josephe, additional, Cullen, Michael, additional, Epstein, Caroline G, additional, Burdett, Laurie, additional, Dean, Michael C, additional, Chatterjee, Nilanjan, additional, Sampson, Joshua, additional, Chung, Charles C, additional, Kovaks, Joseph, additional, Gapstur, Susan M, additional, Stevens, Victoria L, additional, Teras, Lauren T, additional, Gaudet, Mia M, additional, Albanes, Demetrius, additional, Weinstein, Stephanie J, additional, Virtamo, Jarmo, additional, Taylor, Philip R, additional, Freedman, Neal D, additional, Abnet, Christian C, additional, Goldstein, Alisa M, additional, Hu, Nan, additional, Yu, Kai, additional, Yuan, Jian-Min, additional, Liao, Linda, additional, Ding, Ti, additional, Qiao, You-Lin, additional, Gao, Yu-Tang, additional, Koh, Woon-Puay, additional, Xiang, Yong-Bing, additional, Tang, Ze-Zhong, additional, Fan, Jin-Hu, additional, Aldrich, Melinda C, additional, Amos, Christopher, additional, Blot, William J, additional, Bock, Cathryn H, additional, Gillanders, Elizabeth M, additional, Harris, Curtis C, additional, Haiman, Christopher A, additional, Henderson, Brian E, additional, Kolonel, Laurence N, additional, Le Marchand, Loic, additional, McNeill, Lorna H, additional, Rybicki, Benjamin A, additional, Schwartz, Ann G, additional, Signorello, Lisa B, additional, Spitz, Margaret R, additional, Wiencke, John K, additional, Wrensch, Margaret, additional, Wu, Xifeng, additional, Zanetti, Krista A, additional, Ziegler, Regina G, additional, Figueroa, Jonine D, additional, Garcia-Closas, Montserrat, additional, Malats, Nuria, additional, Marenne, Gaelle, additional, Prokunina-Olsson, Ludmila, additional, Baris, Dalsu, additional, Schwenn, Molly, additional, Johnson, Alison, additional, Landi, Maria Teresa, additional, Goldin, Lynn, additional, Consonni, Dario, additional, Bertazzi, Pier Alberto, additional, Rotunno, Melissa, additional, Rajaraman, Preetha, additional, Andersson, Ulrika, additional, Freeman, Laura E Beane, additional, Berg, Christine D, additional, Buring, Julie E, additional, Butler, Mary A, additional, Carreon, Tania, additional, Feychting, Maria, additional, Ahlbom, Anders, additional, Gaziano, J Michael, additional, Giles, Graham G, additional, Hallmans, Goran, additional, Hankinson, Susan E, additional, Hartge, Patricia, additional, Henriksson, Roger, additional, Inskip, Peter D, additional, Johansen, Christoffer, additional, Landgren, Annelie, additional, McKean-Cowdin, Roberta, additional, Michaud, Dominique S, additional, Melin, Beatrice S, additional, Peters, Ulrike, additional, Ruder, Avima M, additional, Sesso, Howard D, additional, Severi, Gianluca, additional, Shu, Xiao-Ou, additional, Visvanathan, Kala, additional, White, Emily, additional, Wolk, Alicja, additional, Zeleniuch-Jacquotte, Anne, additional, Zheng, Wei, additional, Silverman, Debra T, additional, Kogevinas, Manolis, additional, Gonzalez, Juan R, additional, Villa, Olaya, additional, Li, Donghui, additional, Duell, Eric J, additional, Risch, Harvey A, additional, Olson, Sara H, additional, Kooperberg, Charles, additional, Wolpin, Brian M, additional, Jiao, Li, additional, Hassan, Manal, additional, Wheeler, William, additional, Arslan, Alan A, additional, Bueno-de-Mesquita, H Bas, additional, Fuchs, Charles S, additional, Gallinger, Steven, additional, Gross, Myron D, additional, Holly, Elizabeth A, additional, Klein, Alison P, additional, LaCroix, Andrea, additional, Mandelson, Margaret T, additional, Petersen, Gloria, additional, Boutron-Ruault, Marie-Christine, additional, Bracci, Paige M, additional, Canzian, Federico, additional, Chang, Kenneth, additional, Cotterchio, Michelle, additional, Giovannucci, Edward L, additional, Goggins, Michael, additional, Bolton, Judith A Hoffman, additional, Jenab, Mazda, additional, Khaw, Kay-Tee, additional, Krogh, Vittorio, additional, Kurtz, Robert C, additional, McWilliams, Robert R, additional, Mendelsohn, Julie B, additional, Rabe, Kari G, additional, Riboli, Elio, additional, Tjønneland, Anne, additional, Tobias, Geoffrey S, additional, Trichopoulos, Dimitrios, additional, Elena, Joanne W, additional, Yu, Herbert, additional, Amundadottir, Laufey, additional, Stolzenberg-Solomon, Rachael Z, additional, Kraft, Peter, additional, Schumacher, Fredrick, additional, Stram, Daniel, additional, Savage, Sharon A, additional, Mirabello, Lisa, additional, Andrulis, Irene L, additional, Wunder, Jay S, additional, García, Ana Patiño, additional, Sierrasesúmaga, Luis, additional, Barkauskas, Donald A, additional, Gorlick, Richard G, additional, Purdue, Mark, additional, Chow, Wong-Ho, additional, Moore, Lee E, additional, Schwartz, Kendra L, additional, Davis, Faith G, additional, Hsing, Ann W, additional, Berndt, Sonja I, additional, Black, Amanda, additional, Wentzensen, Nicolas, additional, Brinton, Louise A, additional, Lissowska, Jolanta, additional, Peplonska, Beata, additional, McGlynn, Katherine A, additional, Cook, Michael B, additional, Graubard, Barry I, additional, Kratz, Christian P, additional, Greene, Mark H, additional, Erickson, Ralph L, additional, Hunter, David J, additional, Thomas, Gilles, additional, Hoover, Robert N, additional, Real, Francisco X, additional, Fraumeni, Joseph F, additional, Caporaso, Neil E, additional, Tucker, Margaret, additional, Rothman, Nathaniel, additional, Pérez-Jurado, Luis A, additional, and Chanock, Stephen J, additional

Published
2012
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160. Risk Factors Associated with Childhood Strabismus

Author

Cotter, Susan A., primary, Varma, Rohit, additional, Tarczy-Hornoch, Kristina, additional, McKean-Cowdin, Roberta, additional, Lin, Jesse, additional, Wen, Ge, additional, Wei, Jolyn, additional, Borchert, Mark, additional, Azen, Stanley P., additional, Torres, Mina, additional, Tielsch, James M., additional, Friedman, David S., additional, Repka, Michael X., additional, Katz, Joanne, additional, Ibironke, Josephine, additional, and Giordano, Lydia, additional

Published
2011
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161. Risk Factors for Decreased Visual Acuity in Preschool Children

Author

Tarczy-Hornoch, Kristina, primary, Varma, Rohit, additional, Cotter, Susan A., additional, McKean-Cowdin, Roberta, additional, Lin, Jesse H., additional, Borchert, Mark S., additional, Torres, Mina, additional, Wen, Ge, additional, Azen, Stanley P., additional, Tielsch, James M., additional, Friedman, David S., additional, Repka, Michael X., additional, Katz, Joanne, additional, Ibironke, Josephine, additional, and Giordano, Lydia, additional

Published
2011
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163. Risk Factors for Hyperopia and Myopia in Preschool Children

Author

Borchert, Mark S., primary, Varma, Rohit, additional, Cotter, Susan A., additional, Tarczy-Hornoch, Kristina, additional, McKean-Cowdin, Roberta, additional, Lin, Jesse H., additional, Wen, Ge, additional, Azen, Stanley P., additional, Torres, Mina, additional, Tielsch, James M., additional, Friedman, David S., additional, Repka, Michael X., additional, Katz, Joanne, additional, Ibironke, Josephine, additional, and Giordano, Lydia, additional

Published
2011
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164. Risk Factors for Astigmatism in Preschool Children

Author

McKean-Cowdin, Roberta, primary, Varma, Rohit, additional, Cotter, Susan A., additional, Tarczy-Hornoch, Kristina, additional, Borchert, Mark S., additional, Lin, Jesse H., additional, Wen, Ge, additional, Azen, Stanley P., additional, Torres, Mina, additional, Tielsch, James M., additional, Friedman, David S., additional, Repka, Michael X., additional, Katz, Joanne, additional, Ibironke, Josephine, additional, and Giordano, Lydia, additional

Published
2011
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174. Ambient air pollution and brain cancer mortality

Author

McKean-Cowdin, Roberta, primary, Calle, Eugenia E., additional, Peters, John M., additional, Henley, Jane, additional, Hannan, Lindsay, additional, Thurston, George D., additional, Thun, Michael J., additional, and Preston-Martin, Susan, additional

Published
2009
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175. Associations between Polymorphisms in DNA Repair Genes and Glioblastoma

Author

McKean-Cowdin, Roberta, primary, Barnholtz-Sloan, Jill, additional, Inskip, Peter D., additional, Ruder, Avima M., additional, Butler, MaryAnn, additional, Rajaraman, Preetha, additional, Razavi, Pedram, additional, Patoka, Joe, additional, Wiencke, John K., additional, Bondy, Melissa L., additional, and Wrensch, Margaret, additional

Published
2009
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181. Maternal medication use and the risk of brain tumors in the offspring: The SEARCH international case-control study

Author

Cardy, Amanda H., primary, Little, Julian, additional, McKean-Cowdin, Roberta, additional, Lijinsky, William, additional, Choi, N. Won, additional, Cordier, Sylvanie, additional, Filippini, Graziella, additional, Holly, Elizabeth A., additional, Lubin, Flora, additional, McCredie, Margaret, additional, Mueller, Beth A., additional, Peris-Bonet, Raphael, additional, Arslan, Annie, additional, and Preston-Martin, Susan, additional

Published
2005
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184. Trends in childhood brain tumor incidence, 1973-2009.

Author

McKean-Cowdin, Roberta, Razavi, Pedram, Barrington-Trimis, Jessica, Baldwin, Rachel, Asgharzadeh, Shahab, Cockburn, Myles, Tihan, Tarik, and Preston-Martin, Susan

Abstract

In the mid-1980s, there was a rise in incidence rates of childhood brain tumors (CBT) in the United States that appeared to stabilize at a higher rate in the early 1990s. An updated analysis of the pattern of CBT over the past 2 decades, with commentary on whether the elevated incidence rate has continued, is past due. We used Surveillance, Epidemiology and End Results (SEER) data to examine trends in incidence of CBT from 1973 through 2009. We examined age-adjusted incidence rates (AAIRs) and secular trends for all malignant brain tumors combined (SEER classification) by histologic tumor type and anatomic site. The incidence of CBT remained stable from 1987 to 2009 [annual percent change (APC) = 0.10; 95 % confidence intervals (CI) −0.39 to 0.61] with an AAIR for all CBT of 3.32 (95 % CI 3.22-3.42). The stability of rates in these two decades contrast the change that occurred in the mid-1980s (1983-1986), when the incidence of CBT increased by 53 % (APC = 14.06; 95 % CI 4.05-25.0). From 1983 to 1986, statistically significant rate increases were observed for pilocytic astrocytoma, PNET/medulloblastoma, and mixed glioma. Further, the rate of increase in pilocytic astrocytoma was similar to the rate of decrease for astrocytomas NOS from 1981 to 2009, suggesting a change from a more general to more specific classification. After the increase in rates in the mid-1980s, rates of CBT over the past two decades have stabilized. Changes in incidence rates of subtypes of tumors over this time period reflect changes both in classification of CBT and in diagnostic techniques. [ABSTRACT FROM AUTHOR]

Published
2013
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185. Development of a vision-targeted health-related quality of life item measure.

Author

Paz, Sylvia H., Slotkin, Jerry, McKean-Cowdin, Roberta, Lee, Paul, Owsley, Cynthia, Vitale, Susan, Varma, Rohit, Gershon, Richard, and Hays, Ron D.

Subjects
COLOR vision testing, EYE diseases, QUALITY of life, NEUROLOGY, BEHAVIOR, WELL-being, SOCIAL psychology
Abstract

Purpose: To develop a vision-targeted health-related quality of life (HRQOL) measure for the NIH Toolbox for the Assessment of Neurological and Behavioral Function. Methods: We conducted a review of existing vision-targeted HRQOL surveys and identified color vision, low luminance vision, distance vision, general vision, near vision, ocular symptoms, psychosocial well-being, and role performance domains. Items in existing survey instruments were sorted into these domains. We selected non-redundant items and revised them to improve clarity and to limit the number of different response options. We conducted 10 cognitive interviews to evaluate the items. Finally, we revised the items and administered them to 819 individuals to calibrate the items and estimate the measure’s reliability and validity. Results: The field test provided support for the 53-item vision-targeted HRQOL measure encompassing 6 domains: color vision, distance vision, near vision, ocular symptoms, psychosocial well-being, and role performance. The domain scores had high levels of reliability (coefficient alphas ranged from 0.848 to 0.940). Validity was supported by high correlations between National Eye Institute Visual Function Questionnaire scales and the new-vision-targeted scales (highest values were 0.771 between psychosocial well-being and mental health, and 0.729 between role performance and role difficulties), and by lower mean scores in those groups self-reporting eye disease (F statistic with p < 0.01 for all comparisons except cataract with ocular symptoms, psychosocial well-being, and role performance scales). Conclusions: This vision-targeted HRQOL measure provides a basis for comprehensive assessment of the impact of eye diseases and treatments on daily functioning and well-being in adults. [ABSTRACT FROM AUTHOR]

Published
2013
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187. Genome-wide association study of glioma and meta-analysis.

Author

Rajaraman, Preetha, Melin, Beatrice, Wang, Zhaoming, McKean-Cowdin, Roberta, Michaud, Dominique, Wang, Sophia, Bondy, Melissa, Houlston, Richard, Jenkins, Robert, Wrensch, Margaret, Yeager, Meredith, Ahlbom, Anders, Albanes, Demetrius, Andersson, Ulrika, Freeman, Laura, Buring, Julie, Butler, Mary, Braganza, Melissa, Carreon, Tania, and Feychting, Maria

Subjects
CASE-control method, COHORT analysis, HUMAN genome, GLIOMAS, META-analysis, BRAIN tumors, DISEASE susceptibility, DISEASE risk factors
Abstract

Gliomas account for approximately 80 % of all primary malignant brain tumors and, despite improvements in clinical care over the last 20 years, remain among the most lethal tumors, underscoring the need for gaining new insights that could translate into clinical advances. Recent genome-wide association studies (GWAS) have identified seven new susceptibility regions. We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort studies, 3 case-control studies, and 1 population-based case-only study) and found evidence of strong replication for three of the seven previously reported associations at 20q13.33 ( RTEL), 5p15.33 ( TERT), and 9p21.3 ( CDKN2BAS), and consistent association signals for the remaining four at 7p11.2 ( EGFR both loci), 8q24.21 ( CCDC26) and 11q23.3 ( PHLDB1). The direction and magnitude of the signal were consistent for samples from cohort and case-control studies, but the strength of the association was more pronounced for loci rs6010620 (20q,13.33; RTEL) and rs2736100 (5p15.33, TERT) in cohort studies despite the smaller number of cases in this group, likely due to relatively more higher grade tumors being captured in the cohort studies. We further examined the 85 most promising single nucleotide polymorphism (SNP) markers identified in our study in three replication sets (5,015 cases and 11,601 controls), but no new markers reached genome-wide significance. Our findings suggest that larger studies focusing on novel approaches as well as specific tumor subtypes or subgroups will be required to identify additional common susceptibility loci for glioma risk. [ABSTRACT FROM AUTHOR]

Published
2012
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188. New portable tool to screen vestibular and visual function-National Institutes of Health Toolbox initiative.

Author

Rine, Rose Marie, Roberts, Dale, Corbin, Bree A., McKean-Cowdin, Roberta, Varma, Rohit, Beaumont, Jennifer, Slotkin, Jerry, and Schubert, Michael C.

Subjects
VESTIBULAR apparatus diseases, DIAGNOSIS, ELECTRONYSTAGMOGRAPHY, ETHNIC groups, HEAD, RESEARCH methodology, COMPUTERS in medicine, PROBABILITY theory, RESEARCH funding, STATISTICAL hypothesis testing, STATISTICS, T-test (Statistics), VESTIBULAR apparatus, VISION testing, VISUAL acuity, BODY movement, INTER-observer reliability, RESEARCH methodology evaluation, DESCRIPTIVE statistics
Abstract

As part of the National Institutes of Health Toolbox initiative, we developed a low-cost, easy-to-administer, and time-efficient test of vestibular and visual function. A computerized test of dynamic visual acuity (cDVA) was used to measure the difference in visual acuity between head still and moving in yaw. Participants included 318 individuals, aged 3 to 85 years (301 without and 17 with vestibular pathology). Adults used Early Treatment of Diabetic Retinopathy Study (ETDRS) optotypes; children used ETDRS, Lea, and HOTV optotypes. Bithermal calorics, rotational chair, and light box testing were used to validate the cDVA. Analysis revealed that the cDVA test is reliable for static (intraclass correlation coefficient [ICC] >/=­ 0.64) and dynamic (ICC >/= 0.43--V0.75) visual acuity. Children younger than 6 years old were more likely to complete cDVA with Lea optotypes, but reliability and correlation with ETDRS was better using HOTV optotypes. The high correlation between static acuity and light box test scores (r = 0.795), significant difference of cDVA scores between those with and without pathology (p >/=­ 0.04), and the good to excellent sensitivity (73%) and specificity (69%) establish that the cDVA is a valid and reliable measure of visual acuity when the head is still and moving, as well as a good proxy of vestibular function to yaw rotation. [ABSTRACT FROM AUTHOR]

Published
2012
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189. Effect of Reproductive Factors and Oral Contraceptives on Breast Cancer Risk in BRCAII2 Mutation Carriers and Noncarriers: Results from a Population-Based Study.

Author

Eunjung Lee, Huiyan Ma, McKean-Cowdin, Roberta, Van Den Berg, David, Bernstein, Leslie, Henderson, Brian E., and Ursin, Giske

Abstract

The article studies the effect of reproductive factors and oral contraceptives on breast cancer risk in BRCAII2 mutation carriers and noncarriers. It suggests that parity protects against breast cancer in BRCA1/2 mutation carriers, whereas breast-feeding does not. The article suggests no association between oral contraceptive use and breast cancer risk in BRCA1/2 mutation carriers.

Published
2008
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191. Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1and BRCA2using five methods: results from a population-based study of young breast cancer patients

Author

Lee, Eunjung, McKean-Cowdin, Roberta, Ma, Huiyan, Chen, Zhengjia, Van Den Berg, David, Henderson, Brian, Bernstein, Leslie, and Ursin, Giske

Abstract

Efforts are ongoing to determine the significance of unclassified variants (UVs) in the breast cancer susceptibility genes BRCA1/BRCA2, but no study has systematically assessed whether women carrying the suspected deleterious UVs have characteristics commonly seen among women carrying known deleterious or disease-causing mutations in BRCA1/BRCA2. We sequenced BRCA1/BRCA2in 1,469 population-based female breast cancer patients diagnosed between the ages of 20 and 49 years. We used existing literature to classify variants into known deleterious mutations, polymorphic variants, and UVs. The UVs were further classified as high risk or low risk based on five methods: allele frequency, Polyphen algorithm, sequence conservation, Grantham matrix scores, and a combination of the Grantham matrix score and sequence conservation. Furthermore, we examined whether patients who carry the variants classified as high risk using these methods have risk characteristics similar to patients with known deleterious BRCA1/BRCA2mutations (early age at diagnosis, family history of breast cancer or ovarian cancer, and negative estrogen receptor/progesterone receptor). We identified 262 distinct BRCA1/BRCA2variants, including 147 UVs, in our study population. The BRCA1UV carriers, but not the BRCA2UV carriers, who were classified as high risk using each classification method were more similar to the deleterious mutation carriers with respect to family history than those carriers classified as low risk. For example, the odds ratio of having a first-degree family history for the high-risk women classified using Polyphen was 3.39 (95% confidence interval = 1.16 to 9.94) compared with normal/polymorphic BRCA1carriers. The corresponding odds ratio of low-risk women was 1.53 (95% confidence interval = 1.07 to 2.18). The odds ratio for high-risk women defined by allele frequency was 2.00 (95% confidence interval = 1.14 to 3.51), and that of low-risk women was 1.30 (95% confidence interval = 0.87 to 1.93). The results suggest that the five classification methods yielded similar results. Polyphen was particularly better at isolating BRCA1UV carriers likely to have a family history of breast cancer or ovarian cancer, and may therefore help to classify BRCA1UVs. Our study suggests that these methods may not be as successful in classifying BRCA2UVs.

Published
2008
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192. An association between a common variant (G972R) in the IRS-1gene and sex hormone levels in post-menopausal breast cancer survivors

Author

Fan, Jing, McKean-Cowdin, Roberta, Bernstein, Leslie, Stanczyk, Frank, Li, Arthur, Ballard-Barbash, Rachel, McTiernan, Anne, Baumgartner, Richard, and Gilliland, Frank

Abstract

Insulin receptor substrate-1 (IRS-1) is a key downstream signaling molecule common to both the insulin and IGF signaling pathways that can interact with the estrogen pathway to regulate breast cell growth. We investigated whether a putative functional variant for IRS-1(G972R) influences circulating levels of sex hormones, sex hormone binding globulin (SHBG), C-peptide, and insulin-like growth factor 1 (IGF-1) levels among post-menopausal African-American and non-Hispanic white breast cancer patients enrolled in the Health, Eating, Activity, and Lifestyle (HEAL) Study. Circulating levels of sex hormones and growth factors can influence breast cancer recurrence and survival. Serum estrone, estradiol, testosterone, SHBG, IGF-1 and C-peptide were measured in 468 patients at 30+ months post diagnosis. Non-protein bound hormone levels (free estradiol, free testosterone) were calculated. In African-American patients, the IRS-1variant was associated with increased serum levels of estrone (p=0.02), free estradiol (p=0.04), total testosterone (p=0.04), free testosterone (p=0.006) and decreased levels of sex hormone-binding globulin (p=0.02). No association was present for white patients. Our findings provide suggestive evidence that IRS-1G972R variant may be associated with circulating levels of sex hormones and SHBG in African American breast cancer survivors.Insulin receptor substrate-1 (IRS-1) is a key downstream signaling molecule common to both the insulin and IGF signaling pathways that can interact with the estrogen pathway to regulate breast cell growth. We investigated whether a putative functional variant for IRS-1(G972R) influences circulating levels of sex hormones, sex hormone binding globulin (SHBG), C-peptide, and insulin-like growth factor 1 (IGF-1) levels among post-menopausal African-American and non-Hispanic white breast cancer patients enrolled in the Health, Eating, Activity, and Lifestyle (HEAL) Study. Circulating levels of sex hormones and growth factors can influence breast cancer recurrence and survival. Serum estrone, estradiol, testosterone, SHBG, IGF-1 and C-peptide were measured in 468 patients at 30+ months post diagnosis. Non-protein bound hormone levels (free estradiol, free testosterone) were calculated. In African-American patients, the IRS-1variant was associated with increased serum levels of estrone (p=0.02), free estradiol (p=0.04), total testosterone (p=0.04), free testosterone (p=0.006) and decreased levels of sex hormone-binding globulin (p=0.02). No association was present for white patients. Our findings provide suggestive evidence that IRS-1G972R variant may be associated with circulating levels of sex hormones and SHBG in African American breast cancer survivors.

Published
2006
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193. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather, Schurmann, Claudia, Justice, Anne, Fine, Rebecca, Bradfield, Jonathan, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin, Alfred, Tamuno, Feitosa, Mary, Masca, Nicholas, Manning, Alisa, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie, Reiner, Alex, Vedantam, Sailaja, Willems, Sara, Winkler, Thomas, Abecasis, Gonçalo, Aben, Katja, Alam, Dewan, Alharthi, Sameer, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert, Auer, Paul, Balkau, Beverley, Bang, Lia, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten, Bork-Jensen, Jette, Bots, Michiel, Bottinger, Erwin, Bowden, Donald, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray, Broer, Linda, Brumat, Marco, Burt, Amber, Butterworth, Adam, Campbell, Peter, Cappellani, Stefania, Carey, David, Catamo, Eulalia, Caulfield, Mark, Chambers, John, Chasman, Daniel, Chen, Yii-Der, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey, Cocca, Massimiliano, Collins, Francis, Cook, James, Corley, Janie, Galbany, Jordi, Cox, Amanda, Crosslin, David, Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul, Groot, Mark, Mutsert, Renée, Deary, Ian, Dedoussis, George, Demerath, Ellen, Heijer, Martin, Hollander, Anneke, Ruijter, Hester, Dennis, Joe, Denny, Josh, Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison, Easton, Douglas, Edwards, Todd, Ellinghaus, David, Ellinor, Patrick, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I., Faul, Jessica, Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose, Ford, Ian, Fornage, Myriam, Franco, Oscar, Franke, Andre, Franks, Paul, Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette, Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan, Grarup, Niels, Griffiths, Helen, Grove, Megan, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke, Hansen, Torben, Harris, Kathleen, Harris, Tamara, Hattersley, Andrew, Have, Christian, Hayward, Caroline, He, Liang, Heard-Costa, Nancy, Heath, Andrew, Heid, Iris, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex, Holmen, Oddgeir, Hovingh, G., Howson, Joanna, Hu, Yao, Huang, Paul, Huffman, Jennifer, Ikram, M., Ingelsson, Erik, Jackson, Anne, Jansson, Jan-Håkan, Jarvik, Gail, Jensen, Gorm, Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit, Jørgensen, Torben, Jukema, J., Kahali, Bratati, Kahn, René, Kähönen, Mika, Kamstrup, Pia, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon, Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus, Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal, Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Lamparter, David, Lange, Ethan, Lange, Leslie, Langenberg, Claudia, Larson, Eric, Lee, Nanette, Lehtimäki, Terho, Lewis, Cora, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang, Liu, Yongmei, Lo, Ken, Lophatananon, Artitaya, Lotery, Andrew, Loukola, Anu, Luan, Jian’an, Lubitz, Steven, Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela, McCarthy, Mark, McKean-Cowdin, Roberta, Medland, Sarah, Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen, Moilanen, Leena, Moitry, Marie, Montgomery, Grant, Mook-Kanamori, Dennis, Moore, Carmel, Mori, Trevor, Morris, Andrew, Morris, Andrew, Müller-Nurasyid, Martina, Munroe, Patricia, Nalls, Mike, Narisu, Narisu, Nelson, Christopher, Neville, Matt, Nielsen, Sune, Nikus, Kjell, Njølstad, Pål, Nordestgaard, Børge, Nyholt, Dale, O’Connel, Jeffrey, O’Donoghue, Michelle, Loohuis, Loes, Ophoff, Roel, Owen, Katharine, Packard, Chris, Padmanabhan, Sandosh, Palmer, Colin, Palmer, Nicholette, Pasterkamp, Gerard, Patel, Aniruddh, Pattie, Alison, Pedersen, Oluf, Peissig, Peggy, Peloso, Gina, Pennell, Craig, Perola, Markus, Perry, James, Perry, John, Pers, Tune, Person, Thomas, Peters, Annette, Petersen, Eva, Peyser, Patricia, Pirie, Ailith, Polasek, Ozren, Polderman, Tinca, Puolijoki, Hannu, Raitakari, Olli, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot, Renström, Frida, Rheinberger, Myriam, Ridker, Paul, Rioux, John, Rivas, Manuel, Roberts, David, Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh, Sapkota, Yadav, Sattar, Naveed, Schoen, Robert, Schreiner, Pamela, Schulze, Matthias, Scott, Robert, Segura-Lepe, Marcelo, Shah, Svati, Sheu, Wayne, Sim, Xueling, Slater, Andrew, Small, Kerrin, Smith, Albert, Southam, Lorraine, Spector, Timothy, Speliotes, Elizabeth, Starr, John, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Strauch, Konstantin, Stringham, Heather, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy, Tada, Hayato, Tansey, Katherine, Tardif, Jean-Claude, Taylor, Kent, Teumer, Alexander, Thompson, Deborah, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina, Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan, Uher, Rudolf, Uitterlinden, André, Uusitupa, Matti, Laan, Sander, Duijn, Cornelia, Leeuwen, Nienke, Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor, Varma, Rohit, Edwards, Digna, Vermeulen, Sita, Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas, Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol, Wang, Shuai, Wang, Yiqin, Ware, Erin, Wareham, Nicholas, Warren, Helen, Waterworth, Dawn, Wessel, Jennifer, White, Harvey, Willer, Cristen, Wilson, James, Witte, Daniel, Wood, Andrew, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina, Rotter, Jerome, Pospisilik, John, Rivadeneira, Fernando, Borecki, Ingrid, Deloukas, Panos, Frayling, Timothy, Lettre, Guillaume, North, Kari, Lindgren, Cecilia, Hirschhorn, Joel, and Loos, Ruth

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2019
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194. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Author

Conti, David V., Darst, Burcu F., Moss, Lilit C., Saunders, Edward J., Sheng, Xin, Chou, Alisha, Schumacher, Fredrick R., Olama, Ali Amin Al, Benlloch, Sara, Dadaev, Tokhir, Brook, Mark N., Sahimi, Ali, Hoffmann, Thomas J., Takahashi, Atushi, Matsuda, Koichi, Momozawa, Yukihide, Fujita, Masashi, Muir, Kenneth, Lophatananon, Artitaya, Wan, Peggy, Le Marchand, Loic, Wilkens, Lynne R., Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., Cybulski, Cezary, Wokołorczyk, Dominika, Lubiński, Jan, Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Nordestgaard, Børge G., Nielsen, Sune F., Weischer, Maren, Bojesen, Stig E., Røder, Martin Andreas, Iversen, Peter, Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Horvath, Lisa, Clements, Judith A., Tilley, Wayne, Risbridger, Gail P., Gronberg, Henrik, Aly, Markus, Szulkin, Robert, Eklund, Martin, Nordström, Tobias, Pashayan, Nora, Dunning, Alison M., Ghoussaini, Maya, Travis, Ruth C., Key, Tim J., Riboli, Elio, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Albanes, Demetrius, Weinstein, Stephanie J., Mucci, Lorelei A., Giovannucci, Edward, Lindstrom, Sara, Kraft, Peter, Hunter, David J., Penney, Kathryn L., Turman, Constance, Tangen, Catherine M., Goodman, Phyllis J., Thompson, Ian M., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Parent, Marie-Élise, Stanford, Janet L., Ostrander, Elaine A., Geybels, Milan S., Koutros, Stella, Freeman, Laura E. Beane, Stampfer, Meir, Wolk, Alicja, Håkansson, Niclas, Andriole, Gerald L., Hoover, Robert N., Machiela, Mitchell J., Sørensen, Karina Dalsgaard, Borre, Michael, Blot, William J., Zheng, Wei, Yeboah, Edward D., Mensah, James E., Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Wu, Yudong, Zhao, Shan-Chao, Sun, Zan, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., West, Catharine M. L., Burnet, Neil, Barnett, Gill, Maier, Christiane, Schnoeller, Thomas, Luedeke, Manuel, Kibel, Adam S., Drake, Bettina F., Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, John, Esther M., Grindedal, Eli Marie, Maehle, Lovise, Khaw, Kay-Tee, Ingles, Sue A., Stern, Mariana C., Vega, Ana, Gómez-Caamaño, Antonio, Fachal, Laura, Rosenstein, Barry S., Kerns, Sarah L., Ostrer, Harry, Teixeira, Manuel R., Paulo, Paula, Brandão, Andreia, Watya, Stephen, Lubwama, Alexander, Bensen, Jeannette T., Fontham, Elizabeth T. H., Mohler, James, Taylor, Jack A., Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Cannon-Albright, Lisa, Teerlink, Craig C., Huff, Chad D., Strom, Sara S., Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Kaneva, Radka, Slavov, Chavdar, Mitev, Vanio, Leach, Robin J., Weaver, Brandi, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Saum, Kai-Uwe, Klein, Eric A., Hsing, Ann W., Kittles, Rick A., Murphy, Adam B., Logothetis, Christopher J., Kim, Jeri, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, Isaacs, William B., Nemesure, Barbara, Hennis, Anselm J. M., Carpten, John, Pandha, Hardev, Michael, Agnieszka, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Xu, Jianfeng, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Newcomb, Lisa F., Lin, Daniel W., Fowke, Jay H., Neslund-Dudas, Christine, Rybicki, Benjamin A., Gamulin, Marija, Lessel, Davor, Kulis, Tomislav, Usmani, Nawaid, Singhal, Sandeep, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Bush, William S., Aldrich, Melinda C., Crawford, Dana C., Srivastava, Shiv, Cullen, Jennifer C., Petrovics, Gyorgy, Casey, Graham, Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Hu, Jennifer J., Sanderson, Maureen, Varma, Rohit, McKean-Cowdin, Roberta, Torres, Mina, Mancuso, Nicholas, Berndt, Sonja I., Van Den Eeden, Stephen K., Easton, Douglas F., Chanock, Stephen J., Cook, Michael B., Wiklund, Fredrik, Nakagawa, Hidewaki, Witte, John S., Eeles, Rosalind A., Kote-Jarai, Zsofia, and Haiman, Christopher A.

Abstract

A Correction to this paper has been published: https://doi.org/10.1038/s41588-021-00786-2.

Published
2021
Full Text
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195. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

Author

Conti, David V, Darst, Burcu F, Moss, Lilit C, Saunders, Edward J, Sheng, Xin, Chou, Alisha, Schumacher, Fredrick R, Olama, Ali Amin Al, Benlloch, Sara, Dadaev, Tokhir, Brook, Mark N, Sahimi, Ali, Hoffmann, Thomas J, Takahashi, Atushi, Matsuda, Koichi, Momozawa, Yukihide, Fujita, Masashi, Muir, Kenneth, Lophatananon, Artitaya, Wan, Peggy, Le Marchand, Loic, Wilkens, Lynne R, Stevens, Victoria L, Gapstur, Susan M, Carter, Brian D, Schleutker, Johanna, Tammela, Teuvo LJ, Sipeky, Csilla, Auvinen, Anssi, Giles, Graham G, Southey, Melissa C, MacInnis, Robert J, Cybulski, Cezary, Wokołorczyk, Dominika, Lubiński, Jan, Neal, David E, Donovan, Jenny L, Hamdy, Freddie C, Martin, Richard M, Nordestgaard, Børge G, Nielsen, Sune F, Weischer, Maren, Bojesen, Stig E, Røder, Martin Andreas, Iversen, Peter, Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Horvath, Lisa, Clements, Judith A, Tilley, Wayne, Risbridger, Gail P, Gronberg, Henrik, Aly, Markus, Szulkin, Robert, Eklund, Martin, Nordström, Tobias, Pashayan, Nora, Dunning, Alison M, Ghoussaini, Maya, Travis, Ruth C, Key, Tim J, Riboli, Elio, Park, Jong Y, Sellers, Thomas A, Lin, Hui-Yi, Albanes, Demetrius, Weinstein, Stephanie J, Mucci, Lorelei A, Giovannucci, Edward, Lindstrom, Sara, Kraft, Peter, Hunter, David J, Penney, Kathryn L, Turman, Constance, Tangen, Catherine M, Goodman, Phyllis J, Thompson, Ian M, Hamilton, Robert J, Fleshner, Neil E, Finelli, Antonio, Parent, Marie-Élise, Stanford, Janet L, Ostrander, Elaine A, Geybels, Milan S, Koutros, Stella, Freeman, Laura E Beane, Stampfer, Meir, Wolk, Alicja, Håkansson, Niclas, Andriole, Gerald L, Hoover, Robert N, Machiela, Mitchell J, Sørensen, Karina Dalsgaard, Borre, Michael, Blot, William J, Zheng, Wei, Yeboah, Edward D, Mensah, James E, Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Wu, Yudong, Zhao, Shan-Chao, Sun, Zan, Thibodeau, Stephen N, McDonnell, Shannon K, Schaid, Daniel J, West, Catharine ML, Burnet, Neil, Barnett, Gill, Maier, Christiane, Schnoeller, Thomas, Luedeke, Manuel, Kibel, Adam S, Drake, Bettina F, Cussenot, Olivier, Cancel-Tassin, Géraldine, Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, John, Esther M, Grindedal, Eli Marie, Maehle, Lovise, Khaw, Kay-Tee, Ingles, Sue A, Stern, Mariana C, Vega, Ana, Gómez-Caamaño, Antonio, Fachal, Laura, Rosenstein, Barry S, Kerns, Sarah L, Ostrer, Harry, Teixeira, Manuel R, Paulo, Paula, Brandão, Andreia, Watya, Stephen, Lubwama, Alexander, Bensen, Jeannette T, Fontham, Elizabeth TH, Mohler, James, Taylor, Jack A, Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Cannon-Albright, Lisa, Teerlink, Craig C, Huff, Chad D, Strom, Sara S, Multigner, Luc, Blanchet, Pascal, Brureau, Laurent, Kaneva, Radka, Slavov, Chavdar, Mitev, Vanio, Leach, Robin J, Weaver, Brandi, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Saum, Kai-Uwe, Klein, Eric A, Hsing, Ann W, Kittles, Rick A, Murphy, Adam B, Logothetis, Christopher J, Kim, Jeri, Neuhausen, Susan L, Steele, Linda, Ding, Yuan Chun, Isaacs, William B, Nemesure, Barbara, Hennis, Anselm JM, Carpten, John, Pandha, Hardev, Michael, Agnieszka, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Xu, Jianfeng, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Newcomb, Lisa F, Lin, Daniel W, Fowke, Jay H, Neslund-Dudas, Christine, Rybicki, Benjamin A, Gamulin, Marija, Lessel, Davor, Kulis, Tomislav, Usmani, Nawaid, Singhal, Sandeep, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van Den Broeck, Thomas, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Larkin, Samantha, Townsend, Paul A, Aukim-Hastie, Claire, Bush, William S, Aldrich, Melinda C, Crawford, Dana C, Srivastava, Shiv, Cullen, Jennifer C, Petrovics, Gyorgy, Casey, Graham, Roobol, Monique J, Jenster, Guido, Van Schaik, Ron HN, Hu, Jennifer J, Sanderson, Maureen, Varma, Rohit, McKean-Cowdin, Roberta, Torres, Mina, Mancuso, Nicholas, Berndt, Sonja I, Van Den Eeden, Stephen K, Easton, Douglas F, Chanock, Stephen J, Cook, Michael B, Wiklund, Fredrik, Nakagawa, Hidewaki, Witte, John S, Eeles, Rosalind A, Kote-Jarai, Zsofia, and Haiman, Christopher A

Subjects
Male, Genetic Loci, Risk Factors, Racial Groups, Odds Ratio, Humans, Prostatic Neoplasms, Genetic Predisposition to Disease, Molecular Sequence Annotation, Neoplasm Invasiveness, Middle Aged, 3. Good health, Genome-Wide Association Study
Abstract

Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction.

196. Detectable clonal mosaicism and its relationship to aging and cancer

Author

Jacobs, Kevin B., Yeager, Meredith, Zhou, Weiyin, Wacholder, Sholom, Wang, Zhaoming, Rodriguez-Santiago, Benjamin, Hutchinson, Amy, Deng, Xiang, Liu, Chenwei, Horner, Marie-Josephe, Cullen, Michael, Liao, Linda, Schwartz, Ann G., McNeill, Lorna H., Schwenn, Molly, Figueroa, Jonine D., Henderson, Brian E., Shu, Xiao-Ou, Zeleniuch-Jacquotte, Anne, Wiencke, John K., Gonzalez, Juan R., Gallinger, Steven, Fan, Jin-Hu, Thomas, Gilles, Wrensch, Margaret, Savage, Sharon A., Silverman, Debra T., Amos, Christopher I., Tang, Ze-Zhong, Sierrasesúmaga, Luis, Consonni, Dario, Albanes, Demetrius, Trichopoulos, Dimitrios, Olson, Sara H., Chow, Wong-Ho, Krogh, Vittorio, Beane Freeman, Laura, Kratz, Christian P., Holly, Elizabeth A., Blot, William J., Hallmans, Göran, Peters, Ulrike, Duell, Eric J., Brinton, Louise A., Yu, Herbert, Hoover, Robert N., Caporaso, Neil E ., Bertazzi, Pier Alberto, Chanock, Stephen J., Erickson, Ralph L., Elena, Joanne W., Visvanathan, Kala, Tobias, Geoffrey S., Rothman, Nathaniel, Gross, Myron D., Hassan, Manal, Chang, Kenneth, Cotterchio, Michelle, Johnson, Alison, Moore, Lee E., Rajaraman, Preetha, Purdue, Mark, Klein, Alison P., Wheeler, William, Wentzensen, Nicolas, Tjønneland, Anne, Arslan, Alan A., Petersen, Gloria, Chatterjee, Nilanjan, Canzian, Federico, Goggins, Michael, Landi, Maria Teresa, Kurtz, Robert C., Graubard, Barry I., Kovaks, Joseph, Marenne, Gaelle, Dean, Michael C., Giovannucci, Edward L., Wunder, Jay S., Andrulis, Irene L., Butler, Mary A., Jenab, Mazda, Bueno de Mesquita, H. Bas, Marchand, Loic Le, Carreon, Tania, Goldin, Lynn, Virtamo, Jarmo, Ruder, Avima M., Peplonska, Beata, Burdett, Laurie, Sampson, Joshua, Gorlick, Richard G., Fuchs, Charles S., Chung, Charles C., Barkauskas, Donald A., Taylor, Philip R., Haiman, Christopher A., Hunter, David J., Gapstur, Susan M., Giles, Graham G., White, Emily, Mendelsohn, Julie B., Zheng, Wei, Lissowska, Jolanta, Amundadottir, Laufey, Andersson, Ulrika, Davis, Faith G., Freedman, Neal D., Boutron-Ruault, Marie-Christine, LaCroix, Andrea, Rabe, Kari G., Hankinson, Susan E., Bracci, Paige M., McKean-Cowdin, Roberta, Weinstein, Stephanie J., Mandelson, Margaret T., Gao, Yu-Tang, Kolonel, Laurence N., Harris, Curtis C., Teras, Lauren T., Fraumeni Jr., Joseph F., Greene, Mark H., Sesso, Howard D., Mirabello, Lisa, Schwartz, Kendra L., Risch, Harvey A., Abnet, Christian C., Prokunina-Olsson, Ludmila, Garcia Closas, Montserrat, Michaud, Dominique S., Stevens, Victoria L., Signorello, Lisa B., Tucker, Margaret, Ding, Ti, Aldrich, Melinda C., Stram, Daniel, Kraft, Peter, Pérez Jurado, Luis A., Berg, Christine D., Hoffman Bolton, Judith A., Koh, Woon-Puay, Buring, Julie E., Ziegler, Regina G., Bock, Cathryn H., McWilliams, Robert R., Feychting, Maria, Goldstein, Alisa M., Hartge, Patricia, Johansen, Christoffer, Hu, Nan, Patiño García, Ana, Rotunno, Melissa, Gillanders, Elizabeth M., Rybicki, Benjamin A., Spitz, Margaret R., Riboli, Elio, Gaziano, J. Michael, Epstein, Caroline G., Khaw, Kay-Tee, Inskip, Peter D., Melin, Beatrice S., Severi, Gianluca, McGlynn, Katherine A., Wolpin, Brian M., Henriksson, Roger, Stolzenberg-Solomon, Rachael Z., Qiao, You-Lin, Gaudet, Mia M., Wu, Xifeng, Berndt, Sonja I., Yu, Kai, Hsing, Ann W., Landgren, Annelie, Wolk, Alicja, Xiang, Yong-Bing, Ahlbom, Anders, Cook, Michael B., Black, Amanda, Baris, Dalsu, Yuan, Jian-Min, Li, Donghui, Malats, Núria, Jiao, Li, Kogevinas, Manolis, Kooperberg, Charles, Villa, Olaya, Real, Francisco X., Zanetti, Krista A., and Schumacher, Fredrick

Subjects
Aging, Envelliment, Càncer, Cancer
Abstract

In an analysis of 31,717 cancer cases and 26,136 cancer-free controls from 13 genome-wide association studies, we observed large chromosomal abnormalities in a subset of clones in DNA obtained from blood or buccal samples. We observed mosaic abnormalities, either aneuploidy or copy-neutral loss of heterozygosity, of > 2 Mb in size in autosomes of 517 individuals (0.89%), with abnormal cell proportions of between 7% and 95%. In cancer-free individuals, frequency increased with age, from 0.23% under 50 years to 1.91% between 75 and 79 years (P = 4.8 x 10(-8)). Mosaic abnormalities were more frequent in individuals with solid tumors (0.97% versus 0.74% in cancer-free individuals; odds ratio (OR) = 1.25; P = 0.016), with stronger association with cases who had DNA collected before diagnosis or treatment (OR = 1.45; P = 0.0005). Detectable mosaicism was also more common in individuals for whom DNA was collected at least 1 year before diagnosis with leukemia compared to cancer-free individuals (OR = 35.4; P = 3.8 x 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases.

197. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather M, Schurmann, Claudia, Justice, Anne E, Fine, Rebecca S, Bradfield, Jonathan P, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L, Alfred, Tamuno, Feitosa, Mary F, Masca, Nicholas GD, Manning, Alisa K, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie CY, Reiner, Alex P, Vedantam, Sailaja, Willems, Sara M, Winkler, Thomas W, Abecasis, Gonçalo, Aben, Katja K, Alam, Dewan S, Alharthi, Sameer E, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert W, Auer, Paul L, Balkau, Beverley, Bang, Lia E, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence F, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten A, Bork-Jensen, Jette, Bots, Michiel L, Bottinger, Erwin P, Bowden, Donald W, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray H, Broer, Linda, Brumat, Marco, Burt, Amber A, Butterworth, Adam S, Campbell, Peter T, Cappellani, Stefania, Carey, David J, Catamo, Eulalia, Caulfield, Mark J, Chambers, John C, Chasman, Daniel I, Chen, Yii-Der I, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey Y, Cocca, Massimiliano, Collins, Francis S, Cook, James P, Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda J, Crosslin, David S, Cuellar-Partida, Gabriel, D'Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul IW, Groot, Mark CH, Mutsert, Renée, Deary, Ian J, Dedoussis, George, Demerath, Ellen W, Heijer, Martin, Hollander, Anneke I, Ruijter, Hester M, Dennis, Joe G, Denny, Josh C, Di Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison M, Easton, Douglas F, Edwards, Todd L, Ellinghaus, David, Ellinor, Patrick T, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I Sadaf, Faul, Jessica D, Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose C, Ford, Ian, Fornage, Myriam, Franco, Oscar H, Franke, Andre, Franks, Paul W, Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel E, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette P, Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan FA, Grarup, Niels, Griffiths, Helen L, Grove, Megan L, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke R, Hansen, Torben, Harris, Kathleen Mullan, Harris, Tamara B, Hattersley, Andrew T, Have, Christian T, Hayward, Caroline, He, Liang, Heard-Costa, Nancy L, Heath, Andrew C, Heid, Iris M, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex W, Holmen, Oddgeir L, Hovingh, G Kees, Howson, Joanna MM, Hu, Yao, Huang, Paul L, Huffman, Jennifer E, Ikram, M Arfan, Ingelsson, Erik, Jackson, Anne U, Jansson, Jan-Håkan, Jarvik, Gail P, Jensen, Gorm B, Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit E, Jørgensen, Torben, Jukema, J Wouter, Kahali, Bratati, Kahn, René S, Kähönen, Mika, Kamstrup, Pia R, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon LR, Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus A, Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal S, Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo A, Lamparter, David, Lange, Ethan M, Lange, Leslie A, Langenberg, Claudia, Larson, Eric B, Lee, Nanette R, Lehtimäki, Terho, Lewis, Cora E, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang J, Liu, Yongmei, Lo, Ken S, Lophatananon, Artitaya, Lotery, Andrew J, Loukola, Anu, Luan, Jian'an, Lubitz, Steven A, Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela L, McCarthy, Mark I, McKean-Cowdin, Roberta, Medland, Sarah E, Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen L, Moilanen, Leena, Moitry, Marie, Montgomery, Grant W, Mook-Kanamori, Dennis O, Moore, Carmel, Mori, Trevor A, Morris, Andrew D, Morris, Andrew P, Müller-Nurasyid, Martina, Munroe, Patricia B, Nalls, Mike A, Narisu, Narisu, Nelson, Christopher P, Neville, Matt, Nielsen, Sune F, Nikus, Kjell, Njølstad, Pål R, Nordestgaard, Børge G, Nyholt, Dale R, O'Connel, Jeffrey R, O'Donoghue, Michelle L, Olde Loohuis, Loes M, Ophoff, Roel A, Owen, Katharine R, Packard, Chris J, Padmanabhan, Sandosh, Palmer, Colin NA, Palmer, Nicholette D, Pasterkamp, Gerard, Patel, Aniruddh P, Pattie, Alison, Pedersen, Oluf, Peissig, Peggy L, Peloso, Gina M, Pennell, Craig E, Perola, Markus, Perry, James A, Perry, John RB, Pers, Tune H, Person, Thomas N, Peters, Annette, Petersen, Eva RB, Peyser, Patricia A, Pirie, Ailith, Polasek, Ozren, Polderman, Tinca J, Puolijoki, Hannu, Raitakari, Olli T, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot F, Renström, Frida, Rheinberger, Myriam, Ridker, Paul M, Rioux, John D, Rivas, Manuel A, Roberts, David J, Robertson, Neil R, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine S, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J, Sapkota, Yadav, Sattar, Naveed, Schoen, Robert E, Schreiner, Pamela J, Schulze, Matthias B, Scott, Robert A, Segura-Lepe, Marcelo P, Shah, Svati H, Sheu, Wayne H-H, Sim, Xueling, Slater, Andrew J, Small, Kerrin S, Smith, Albert V, Southam, Lorraine, Spector, Timothy D, Speliotes, Elizabeth K, Starr, John M, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen E, Strauch, Konstantin, Stringham, Heather M, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy J, Tada, Hayato, Tansey, Katherine E, Tardif, Jean-Claude, Taylor, Kent D, Teumer, Alexander, Thompson, Deborah J, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina H, Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan P, Uher, Rudolf, Uitterlinden, André G, Uusitupa, Matti, Laan, Sander W, Duijn, Cornelia M, Leeuwen, Nienke, Van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor V, Varma, Rohit, Velez Edwards, Digna R, Vermeulen, Sita H, Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas F, Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne E, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol A, Wang, Shuai, Wang, Yiqin, Ware, Erin B, Wareham, Nicholas J, Warren, Helen R, Waterworth, Dawn M, Wessel, Jennifer, White, Harvey D, Willer, Cristen J, Wilson, James G, Witte, Daniel R, Wood, Andrew R, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura M, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing Hua, Zhao, Wei, Zhou, Wei, Zondervan, Krina T, CHD Exome+ Consortium, EPIC-CVD Consortium, ExomeBP Consortium, Global Lipids Genetic Consortium, GoT2D Genes Consortium, EPIC InterAct Consortium, INTERVAL Study, ReproGen Consortium, T2D-Genes Consortium, MAGIC Investigators, Understanding Society Scientific Group, Rotter, Jerome I, Pospisilik, John A, Rivadeneira, Fernando, Borecki, Ingrid B, Deloukas, Panos, Frayling, Timothy M, Lettre, Guillaume, North, Kari E, Lindgren, Cecilia M, Hirschhorn, Joel N, and Loos, Ruth JF

Subjects
2. Zero hunger, Adult, Male, Genetic Variation, Proteins, Syndrome, Body Mass Index, Gene Frequency, Animals, Humans, Drosophila, Female, Obesity, Energy Intake, Energy Metabolism
Abstract

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

198. Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Author

Turcot, Valérie, Lu, Yingchang, Highland, Heather, Schurmann, Claudia, Justice, Anne, Fine, Rebecca, Bradfield, Jonathan, Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey, Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam, Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin, Alfred, Tamuno, Feitosa, Mary, Masca, Nicholas, Manning, Alisa, Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie, Reiner, Alex, Vedantam, Sailaja, Willems, Sara, Winkler, Thomas, Abecasis, Gonçalo, Aben, Katja, Alam, Dewan, Alharthi, Sameer, Allison, Matthew, Amouyel, Philippe, Asselbergs, Folkert, Auer, Paul, Balkau, Beverley, Bang, Lia, Barroso, Inês, Bastarache, Lisa, Benn, Marianne, Bergmann, Sven, Bielak, Lawrence, Blüher, Matthias, Boehnke, Michael, Boeing, Heiner, Boerwinkle, Eric, Böger, Carsten, Bork-Jensen, Jette, Bots, Michiel, Bottinger, Erwin, Bowden, Donald, Brandslund, Ivan, Breen, Gerome, Brilliant, Murray, Broer, Linda, Brumat, Marco, Burt, Amber, Butterworth, Adam, Campbell, Peter, Cappellani, Stefania, Carey, David, Catamo, Eulalia, Caulfield, Mark, Chambers, John, Chasman, Daniel, Chen, Yii-Der, Chowdhury, Rajiv, Christensen, Cramer, Chu, Audrey, Cocca, Massimiliano, Collins, Francis, Cook, James, Corley, Janie, Corominas Galbany, Jordi, Cox, Amanda, Crosslin, David, Cuellar-Partida, Gabriel, D’Eustacchio, Angela, Danesh, John, Davies, Gail, Bakker, Paul, Groot, Mark, Mutsert, Renée, Deary, Ian, Dedoussis, George, Demerath, Ellen, Heijer, Martin, Hollander, Anneke, Ruijter, Hester, Dennis, Joe, Denny, Josh, Angelantonio, Emanuele, Drenos, Fotios, Du, Mengmeng, Dubé, Marie-Pierre, Dunning, Alison, Easton, Douglas, Edwards, Todd, Ellinghaus, David, Ellinor, Patrick, Elliott, Paul, Evangelou, Evangelos, Farmaki, Aliki-Eleni, Farooqi, I., Faul, Jessica, Fauser, Sascha, Feng, Shuang, Ferrannini, Ele, Ferrieres, Jean, Florez, Jose, Ford, Ian, Fornage, Myriam, Franco, Oscar, Franke, Andre, Franks, Paul, Friedrich, Nele, Frikke-Schmidt, Ruth, Galesloot, Tessel, Gan, Wei, Gandin, Ilaria, Gasparini, Paolo, Gibson, Jane, Giedraitis, Vilmantas, Gjesing, Anette, Gordon-Larsen, Penny, Gorski, Mathias, Grabe, Hans-Jörgen, Grant, Struan, Grarup, Niels, Griffiths, Helen, Grove, Megan, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeff, Hakonarson, Hakon, Hammerschlag, Anke, Hansen, Torben, Harris, Kathleen, Harris, Tamara, Hattersley, Andrew, Have, Christian, Hayward, Caroline, He, Liang, Heard-Costa, Nancy, Heath, Andrew, Heid, Iris, Helgeland, Øyvind, Hernesniemi, Jussi, Hewitt, Alex, Holmen, Oddgeir, Hovingh, G., Howson, Joanna, Hu, Yao, Huang, Paul, Huffman, Jennifer, Ikram, M., Ingelsson, Erik, Jackson, Anne, Jansson, Jan-Håkan, Jarvik, Gail, Jensen, Gorm, Jia, Yucheng, Johansson, Stefan, Jørgensen, Marit, Jørgensen, Torben, Jukema, J., Kahali, Bratati, Kahn, René, Kähönen, Mika, Kamstrup, Pia, Kanoni, Stavroula, Kaprio, Jaakko, Karaleftheri, Maria, Kardia, Sharon, Karpe, Fredrik, Kathiresan, Sekar, Kee, Frank, Kiemeney, Lambertus, Kim, Eric, Kitajima, Hidetoshi, Komulainen, Pirjo, Kooner, Jaspal, Kooperberg, Charles, Korhonen, Tellervo, Kovacs, Peter, Kuivaniemi, Helena, Kutalik, Zoltán, Kuulasmaa, Kari, Kuusisto, Johanna, Laakso, Markku, Lakka, Timo, Lamparter, David, Lange, Ethan, Lange, Leslie, Langenberg, Claudia, Larson, Eric, Lee, Nanette, Lehtimäki, Terho, Lewis, Cora, Li, Huaixing, Li, Jin, Li-Gao, Ruifang, Lin, Honghuang, Lin, Keng-Hung, Lin, Li-An, Lin, Xu, Lind, Lars, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Liu, Dajiang, Liu, Yongmei, Lo, Ken, Lophatananon, Artitaya, Lotery, Andrew, Loukola, Anu, Luan, Jian’an, Lubitz, Steven, Lyytikäinen, Leo-Pekka, Männistö, Satu, Marenne, Gaëlle, Mazul, Angela, McCarthy, Mark, McKean-Cowdin, Roberta, Medland, Sarah, Meidtner, Karina, Milani, Lili, Mistry, Vanisha, Mitchell, Paul, Mohlke, Karen, Moilanen, Leena, Moitry, Marie, Montgomery, Grant, Mook-Kanamori, Dennis, Moore, Carmel, Mori, Trevor, Morris, Andrew, Morris, Andrew, Müller-Nurasyid, Martina, Munroe, Patricia, Nalls, Mike, Narisu, Narisu, Nelson, Christopher, Neville, Matt, Nielsen, Sune, Nikus, Kjell, Njølstad, Pål, Nordestgaard, Børge, Nyholt, Dale, O’Connel, Jeffrey, O’Donoghue, Michelle, Olde Loohuis, Loes, Ophoff, Roel, Owen, Katharine, Packard, Chris, Padmanabhan, Sandosh, Palmer, Colin, Palmer, Nicholette, Pasterkamp, Gerard, Patel, Aniruddh, Pattie, Alison, Pedersen, Oluf, Peissig, Peggy, Peloso, Gina, Pennell, Craig, Perola, Markus, Perry, James, Perry, John, Pers, Tune, Person, Thomas, Peters, Annette, Petersen, Eva, Peyser, Patricia, Pirie, Ailith, Polasek, Ozren, Polderman, Tinca, Puolijoki, Hannu, Raitakari, Olli, Rasheed, Asif, Rauramaa, Rainer, Reilly, Dermot, Renström, Frida, Rheinberger, Myriam, Ridker, Paul, Rioux, John, Rivas, Manuel, Roberts, David, Robertson, Neil, Robino, Antonietta, Rolandsson, Olov, Rudan, Igor, Ruth, Katherine, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh, Sapkota, Yadav, Sattar, Naveed, Schoen, Robert, Schreiner, Pamela, Schulze, Matthias, Scott, Robert, Segura-Lepe, Marcelo, Shah, Svati, Sheu, Wayne, Sim, Xueling, Slater, Andrew, Small, Kerrin, Smith, Albert, Southam, Lorraine, Spector, Timothy, Speliotes, Elizabeth, Starr, John, Stefansson, Kari, Steinthorsdottir, Valgerdur, Stirrups, Kathleen, Strauch, Konstantin, Stringham, Heather, Stumvoll, Michael, Sun, Liang, Surendran, Praveen, Swift, Amy, Tada, Hayato, Tansey, Katherine, Tardif, Jean-Claude, Taylor, Kent, Teumer, Alexander, Thompson, Deborah, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Thuesen, Betina, Tönjes, Anke, Tromp, Gerard, Trompet, Stella, Tsafantakis, Emmanouil, Tuomilehto, Jaakko, Tybjaerg-Hansen, Anne, Tyrer, Jonathan, Uher, Rudolf, Uitterlinden, André, Uusitupa, Matti, Laan, Sander, Duijn, Cornelia, Leeuwen, Nienke, van Setten, Jessica, Vanhala, Mauno, Varbo, Anette, Varga, Tibor, Varma, Rohit, Velez Edwards, Digna, Vermeulen, Sita, Veronesi, Giovanni, Vestergaard, Henrik, Vitart, Veronique, Vogt, Thomas, Völker, Uwe, Vuckovic, Dragana, Wagenknecht, Lynne, Walker, Mark, Wallentin, Lars, Wang, Feijie, Wang, Carol, Wang, Shuai, Wang, Yiqin, Ware, Erin, Wareham, Nicholas, Warren, Helen, Waterworth, Dawn, Wessel, Jennifer, White, Harvey, Willer, Cristen, Wilson, James, Witte, Daniel, Wood, Andrew, Wu, Ying, Yaghootkar, Hanieh, Yao, Jie, Yao, Pang, Yerges-Armstrong, Laura, Young, Robin, Zeggini, Eleftheria, Zhan, Xiaowei, Zhang, Weihua, Zhao, Jing, Zhao, Wei, Zhao, Wei, Zhou, Wei, Zondervan, Krina, Rotter, Jerome, Pospisilik, John, Rivadeneira, Fernando, Borecki, Ingrid, Deloukas, Panos, Frayling, Timothy, Lettre, Guillaume, North, Kari, Lindgren, Cecilia, Hirschhorn, Joel, and Loos, Ruth

Abstract

In the version of this article originally published, one of the two authors with the name Wei Zhao was omitted from the author list and the affiliations for both authors were assigned to the single Wei Zhao in the author list. In addition, the ORCID for Wei Zhao (Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA) was incorrectly assigned to author Wei Zhou. The errors have been corrected in the HTML and PDF versions of the article.

Published
2018
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199. Germline GAB2Mutations in Childhood Acute Lymphoblastic Leukemia

Author

de Smith, Adam J, Lavoie, Geneviève, Walsh, Kyle M, Aujla, Sumeet, Evans, Erica, Hansen, Helen M, Smirnov, Ivan, Kang, Alice Y, Zenker, Martin, Ceremsak, John J, Stieglitz, Elliot, McKean-Cowdin, Roberta, Metayer, Catherine, Roux, Philippe P, and Wiemels, Joseph L

Abstract

Recent studies using next-generation sequencing of selected individuals, such as those with familial leukemia or congenital syndromes, have identified rare and highly penetrant germline mutations that predispose to childhood acute lymphoblastic leukemia (ALL). High hyperdiploidy (HD), the most common cytogenetic subtype of childhood ALL, is enriched in children with RASopathies who develop ALL and, similarly, a high proportion of ALL patients with germline ETV6or IKZF1mutations presented with the HD subtype. Here, we aimed to identify novel predisposition genes in a selected group of HD-ALL patients.

Published
2018
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200. Trends in Acute Lymphoblastic Leukemia Incidence in the United States by Race/Ethnicity From 2000 to 2016.

Author

Feng, Qianxi, Smith, Adam J de, Vergara-Lluri, Maria, Muskens, Ivo S, McKean-Cowdin, Roberta, Kogan, Scott, Brynes, Russell, and Wiemels, Joseph L

Subjects
*CONFIDENCE intervals, *LYMPHOBLASTIC leukemia, *HISPANIC Americans, *RACE, *SOCIOECONOMIC factors, *DESCRIPTIVE statistics, *ETHNIC groups, *POISSON distribution
Abstract

Incidence trends in acute lymphoblastic leukemia (ALL) demonstrate disparities by race and ethnicity. We used data from the Surveillance, Epidemiology, and End Results Registry to evaluate patterns in ALL incidence from 2000 to 2016, including the association between percentage of people born in a foreign country at the county level and ALL incidence. Among 23,829 persons of all ages diagnosed with ALL, 8,297 (34.8%) were Latinos, 11,714 (49.2%) were non-Latino (NL) Whites, and 1,639 (6.9%) were NL Blacks. Latinos had the largest increase in the age-adjusted incidence rate (AAIR) of ALL during this period compared with other races/ethnicities for both children and adults: The AAIR was 1.6 times higher for Latinos (AAIR = 2.43, 95% confidence interval (CI): 2.37, 2.49) than for NL Whites (AAIR = 1.56, 95% CI: 1.53, 1.59) (P  < 0.01). The AAIR for all subjects increased approximately 1% per year from 2000 to 2016 (annual percent change = 0.97, 95% CI: 0.67, 1.27), with the highest increase being observed in Latinos (annual percent change = 1.18, 95% CI: 0.76, 1.60). In multivariable models evaluating the contribution of percentage of county residents who were foreign-born to ALL risk, a positive association was found for percentage foreign-born for NL Whites (P for trend < 0.01) and NL Blacks (P for trend < 0.01), but the reverse was found for Latinos (P for trend < 0.01); this is consistent with tenets of the "Hispanic paradox," in which better health outcomes exist for foreign-born Latinos. [ABSTRACT FROM AUTHOR]

Published
2021
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