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2. Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer

Author

Besson, C., Moore, A., Vajdic, C.M., de Sanjose, S., Camp, N.J., Smedby, K.E., Shanafelt, T.D., Morton, L.M., Brewer, J.D., Zablotska, L., Chung, C.C., Teras, L.R., Kleinstern, G., Monnereau, A., Kane, E., Benavente, Y., Purdue, M.P., Birmann, B.M., Link, B.K., Vermeulen, R.C.H., Spinelli, J.J., Albanes, D., Arslan, A.A., Miligi, L., Molina, T.J., Skibola, C.F., Cozen, W., Staines, A., Caporaso, N.E., Giles, G.G., Southey, M.C., Milne, R.L., Tinker, L.F., Severson, R.K., Melbye, M., Adami, H.-O., Glimelius, B., Bracci, P.M., Conde, L., Glenn, M., Curtin, K., Lan, Q., Zheng, T., Weinstein, S., Brooks-Wilson, A.R., Diver, W.R., Clavel, J., Vineis, P., Weiderpass, E., Becker, N., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Weinberg, J.B., Sanna, S., Gambelunghe, A., Jackson, R.D., Hjalgrim, H., North, K.E., McKay, J., Offit, K., Vijai, J., Nieters, A., Engels, E.A., Chanock, S.J., Rothman, N., Cerhan, J.R., Slager, S.L., Han, J., Berndt, S.I., IRAS OH Epidemiology Chemical Agents, and dIRAS RA-2

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Skin Neoplasms, Epidemiology, Chronic lymphocytic leukemia, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Polygenic risk score, immune system diseases, Risk Factors, Polymorphism (computer science), hemic and lymphatic diseases, Internal medicine, Pleiotropism, Genetics, medicine, Genetic predisposition, Humans, Basal cell carcinoma, neoplasms, Pleiotropy, business.industry, General Medicine, Odds ratio, medicine.disease, Leukemia, Lymphocytic, Chronic, B-Cell, NMSC, 030104 developmental biology, Carcinoma, Basal Cell, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, Skin cancer, business, CLL
Abstract

Background Epidemiological studies have demonstrated a positive association between chronic lymphocytic leukaemia (CLL) and non-melanoma skin cancer (NMSC). We hypothesized that shared genetic risk factors between CLL and NMSC could contribute to the association observed between these diseases. Methods We examined the association between (i) established NMSC susceptibility loci and CLL risk in a meta-analysis including 3100 CLL cases and 7667 controls and (ii) established CLL loci and NMSC risk in a study of 4242 basal cell carcinoma (BCC) cases, 825 squamous cell carcinoma (SCC) cases and 12802 controls. Polygenic risk scores (PRS) for CLL, BCC and SCC were constructed using established loci. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Results Higher CLL-PRS was associated with increased BCC risk (OR4th-quartile-vs-1st-quartile = 1.13, 95% CI: 1.02–1.24, Ptrend = 0.009), even after removing the shared 6p25.3 locus. No association was observed with BCC-PRS and CLL risk (Ptrend = 0.68). These findings support a contributory role for CLL in BCC risk, but not for BCC in CLL risk. Increased CLL risk was observed with higher SCC-PRS (OR4th-quartile-vs-1st-quartile = 1.22, 95% CI: 1.08–1.38, Ptrend = 1.36 × 10–5), which was driven by shared genetic susceptibility at the 6p25.3 locus. Conclusion These findings highlight the role of pleiotropy regarding the pathogenesis of CLL and NMSC and shows that a single pleiotropic locus, 6p25.3, drives the observed association between genetic susceptibility to SCC and increased CLL risk. The study also provides evidence that genetic susceptibility for CLL increases BCC risk.

Published
2021

5. Common genetic polymorphisms contribute to the association between chronic lymphocytic leukaemia and non-melanoma skin cancer

Author

IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Besson, C., Moore, A., Vajdic, C.M., de Sanjose, S., Camp, N.J., Smedby, K.E., Shanafelt, T.D., Morton, L.M., Brewer, J.D., Zablotska, L., Chung, C.C., Teras, L.R., Kleinstern, G., Monnereau, A., Kane, E., Benavente, Y., Purdue, M.P., Birmann, B.M., Link, B.K., Vermeulen, R.C.H., Spinelli, J.J., Albanes, D., Arslan, A.A., Miligi, L., Molina, T.J., Skibola, C.F., Cozen, W., Staines, A., Caporaso, N.E., Giles, G.G., Southey, M.C., Milne, R.L., Tinker, L.F., Severson, R.K., Melbye, M., Adami, H.-O., Glimelius, B., Bracci, P.M., Conde, L., Glenn, M., Curtin, K., Lan, Q., Zheng, T., Weinstein, S., Brooks-Wilson, A.R., Diver, W.R., Clavel, J., Vineis, P., Weiderpass, E., Becker, N., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Weinberg, J.B., Sanna, S., Gambelunghe, A., Jackson, R.D., Hjalgrim, H., North, K.E., McKay, J., Offit, K., Vijai, J., Nieters, A., Engels, E.A., Chanock, S.J., Rothman, N., Cerhan, J.R., Slager, S.L., Han, J., Berndt, S.I., IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Besson, C., Moore, A., Vajdic, C.M., de Sanjose, S., Camp, N.J., Smedby, K.E., Shanafelt, T.D., Morton, L.M., Brewer, J.D., Zablotska, L., Chung, C.C., Teras, L.R., Kleinstern, G., Monnereau, A., Kane, E., Benavente, Y., Purdue, M.P., Birmann, B.M., Link, B.K., Vermeulen, R.C.H., Spinelli, J.J., Albanes, D., Arslan, A.A., Miligi, L., Molina, T.J., Skibola, C.F., Cozen, W., Staines, A., Caporaso, N.E., Giles, G.G., Southey, M.C., Milne, R.L., Tinker, L.F., Severson, R.K., Melbye, M., Adami, H.-O., Glimelius, B., Bracci, P.M., Conde, L., Glenn, M., Curtin, K., Lan, Q., Zheng, T., Weinstein, S., Brooks-Wilson, A.R., Diver, W.R., Clavel, J., Vineis, P., Weiderpass, E., Becker, N., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., Weinberg, J.B., Sanna, S., Gambelunghe, A., Jackson, R.D., Hjalgrim, H., North, K.E., McKay, J., Offit, K., Vijai, J., Nieters, A., Engels, E.A., Chanock, S.J., Rothman, N., Cerhan, J.R., Slager, S.L., Han, J., and Berndt, S.I.

Published
2021

7. Genetically Determined Height and Risk of Non-hodgkin Lymphoma

Author

Moore, A., Kane, E., Panagiotou, O.A., Teras, L.R., Monnereau, A., Wong Doo, N., Machiela, M.J., Skibola, C.F., Slager, S.L., Salles, G., Camp, N.J., Bracci, P.M., Nieters, A., Vermeulen, R.C.H., Vijai, J., Smedby, K.E., Vajdic, C.M., Cozen, W., Spinelli, J.J., Hjalgrim, H., Giles, G.G., Link, B.K., Clavel, J., Arslan, A.A., Purdue, M.P., Tinker, L.F., Albanes, D., Ferri, G.M., Habermann, T.M., Adami, H.-O., Becker, N., Benavente, Y., Bisanzi, S., Boffetta, P., Brennan, P., Brooks-Wilson, A.R., Canzian, F., Conde, L., Cox, D.G., Curtin, K., Foretova, L., Gapstur, S.M., Ghesquières, H., Glenn, M., Glimelius, B., Jackson, R.D., Lan, Q., Liebow, M., Maynadie, M., McKay, J., Melbye, M., Miligi, L., Milne, R.L., Molina, T.J., Morton, L.M., North, K.E., Offit, K., Padoan, M., Piro, S., Ravichandran, V., Riboli, E., de Sanjose, S., Severson, R.K., Southey, M.C., Staines, A., Stewart, C., Travis, R.C., Weiderpass, E., Weinstein, S., Zheng, T., Chanock, S.J., Chatterjee, N., Rothman, N., Birmann, B.M., Cerhan, J.R., Berndt, S.I., IRAS OH Epidemiology Chemical Agents, and dIRAS RA-2

Subjects
follicular lymphoma, non-Hodgkin lymphoma, polygenic risk score, diffuse large B-celllymphoma, chronic lymphocytic leukemia, genetics, marginal zone lymphoma, height
Abstract

Although the evidence is not consistent, epidemiologic studies have suggested that taller adult height may be associated with an increased risk of some non-Hodgkin lymphoma (NHL) subtypes. Height is largely determined by genetic factors, but how these genetic factors may contribute to NHL risk is unknown. We investigated the relationship between genetic determinants of height and NHL risk using data from eight genome-wide association studies (GWAS) comprising 10,629 NHL cases, including 3,857 diffuse large B-cell lymphoma (DLBCL), 2,847 follicular lymphoma (FL), 3,100 chronic lymphocytic leukemia (CLL), and 825 marginal zone lymphoma (MZL) cases, and 9,505 controls of European ancestry. We evaluated genetically predicted height by constructing polygenic risk scores using 833 height-associated SNPs. We used logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CI) for association between genetically determined height and the risk of four NHL subtypes in each GWAS and then used fixed-effect meta-analysis to combine subtype results across studies. We found suggestive evidence between taller genetically determined height and increased CLL risk (OR = 1.08, 95% CI = 1.00–1.17, p = 0.049), which was slightly stronger among women (OR = 1.15, 95% CI: 1.01–1.31, p = 0.036). No significant associations were observed with DLBCL, FL, or MZL. Our findings suggest that there may be some shared genetic factors between CLL and height, but other endogenous or environmental factors may underlie reported epidemiologic height associations with other subtypes.

Published
2020

8. Genetically Determined Height and Risk of Non-hodgkin Lymphoma

Author

IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Moore, A., Kane, E., Panagiotou, O.A., Teras, L.R., Monnereau, A., Wong Doo, N., Machiela, M.J., Skibola, C.F., Slager, S.L., Salles, G., Camp, N.J., Bracci, P.M., Nieters, A., Vermeulen, R.C.H., Vijai, J., Smedby, K.E., Vajdic, C.M., Cozen, W., Spinelli, J.J., Hjalgrim, H., Giles, G.G., Link, B.K., Clavel, J., Arslan, A.A., Purdue, M.P., Tinker, L.F., Albanes, D., Ferri, G.M., Habermann, T.M., Adami, H.-O., Becker, N., Benavente, Y., Bisanzi, S., Boffetta, P., Brennan, P., Brooks-Wilson, A.R., Canzian, F., Conde, L., Cox, D.G., Curtin, K., Foretova, L., Gapstur, S.M., Ghesquières, H., Glenn, M., Glimelius, B., Jackson, R.D., Lan, Q., Liebow, M., Maynadie, M., McKay, J., Melbye, M., Miligi, L., Milne, R.L., Molina, T.J., Morton, L.M., North, K.E., Offit, K., Padoan, M., Piro, S., Ravichandran, V., Riboli, E., de Sanjose, S., Severson, R.K., Southey, M.C., Staines, A., Stewart, C., Travis, R.C., Weiderpass, E., Weinstein, S., Zheng, T., Chanock, S.J., Chatterjee, N., Rothman, N., Birmann, B.M., Cerhan, J.R., Berndt, S.I., IRAS OH Epidemiology Chemical Agents, dIRAS RA-2, Moore, A., Kane, E., Panagiotou, O.A., Teras, L.R., Monnereau, A., Wong Doo, N., Machiela, M.J., Skibola, C.F., Slager, S.L., Salles, G., Camp, N.J., Bracci, P.M., Nieters, A., Vermeulen, R.C.H., Vijai, J., Smedby, K.E., Vajdic, C.M., Cozen, W., Spinelli, J.J., Hjalgrim, H., Giles, G.G., Link, B.K., Clavel, J., Arslan, A.A., Purdue, M.P., Tinker, L.F., Albanes, D., Ferri, G.M., Habermann, T.M., Adami, H.-O., Becker, N., Benavente, Y., Bisanzi, S., Boffetta, P., Brennan, P., Brooks-Wilson, A.R., Canzian, F., Conde, L., Cox, D.G., Curtin, K., Foretova, L., Gapstur, S.M., Ghesquières, H., Glenn, M., Glimelius, B., Jackson, R.D., Lan, Q., Liebow, M., Maynadie, M., McKay, J., Melbye, M., Miligi, L., Milne, R.L., Molina, T.J., Morton, L.M., North, K.E., Offit, K., Padoan, M., Piro, S., Ravichandran, V., Riboli, E., de Sanjose, S., Severson, R.K., Southey, M.C., Staines, A., Stewart, C., Travis, R.C., Weiderpass, E., Weinstein, S., Zheng, T., Chanock, S.J., Chatterjee, N., Rothman, N., Birmann, B.M., Cerhan, J.R., and Berndt, S.I.

Published
2020

9. Genetically Determined Height and Risk of Non-hodgkin Lymphoma

Author

Moore, A, Kane, E, Wang, Z, Panagiotou, OA, Teras, LR, Monnereau, A, Wong Doo, N, Machiela, MJ, Skibola, CF, Slager, SL, Salles, G, Camp, NJ, Bracci, PM, Nieters, A, Vermeulen, RCH, Vijai, J, Smedby, KE, Zhang, Y, Vajdic, CM, Cozen, W, Spinelli, JJ, Hjalgrim, H, Giles, GG, Link, BK, Clavel, J, Arslan, AA, Purdue, MP, Tinker, LF, Albanes, D, Ferri, GM, Habermann, TM, Adami, H-O, Becker, N, Benavente, Y, Bisanzi, S, Boffetta, P, Brennan, P, Brooks-Wilson, AR, Canzian, F, Conde, L, Cox, DG, Curtin, K, Foretova, L, Gapstur, SM, Ghesquieres, H, Glenn, M, Glimelius, B, Jackson, RD, Lan, Q, Liebow, M, Maynadie, M, McKay, J, Melbye, M, Miligi, L, Milne, RL, Molina, TJ, Morton, LM, North, KE, Offit, K, Padoan, M, Patel, AV, Piro, S, Ravichandran, V, Riboli, E, de Sanjose, S, Severson, RK, Southey, MC, Staines, A, Stewart, C, Travis, RC, Weiderpass, E, Weinstein, S, Zheng, T, Chanock, SJ, Chatterjee, N, Rothman, N, Birmann, BM, Cerhan, JR, Berndt, SI, Moore, A, Kane, E, Wang, Z, Panagiotou, OA, Teras, LR, Monnereau, A, Wong Doo, N, Machiela, MJ, Skibola, CF, Slager, SL, Salles, G, Camp, NJ, Bracci, PM, Nieters, A, Vermeulen, RCH, Vijai, J, Smedby, KE, Zhang, Y, Vajdic, CM, Cozen, W, Spinelli, JJ, Hjalgrim, H, Giles, GG, Link, BK, Clavel, J, Arslan, AA, Purdue, MP, Tinker, LF, Albanes, D, Ferri, GM, Habermann, TM, Adami, H-O, Becker, N, Benavente, Y, Bisanzi, S, Boffetta, P, Brennan, P, Brooks-Wilson, AR, Canzian, F, Conde, L, Cox, DG, Curtin, K, Foretova, L, Gapstur, SM, Ghesquieres, H, Glenn, M, Glimelius, B, Jackson, RD, Lan, Q, Liebow, M, Maynadie, M, McKay, J, Melbye, M, Miligi, L, Milne, RL, Molina, TJ, Morton, LM, North, KE, Offit, K, Padoan, M, Patel, AV, Piro, S, Ravichandran, V, Riboli, E, de Sanjose, S, Severson, RK, Southey, MC, Staines, A, Stewart, C, Travis, RC, Weiderpass, E, Weinstein, S, Zheng, T, Chanock, SJ, Chatterjee, N, Rothman, N, Birmann, BM, Cerhan, JR, and Berndt, SI

Abstract

Although the evidence is not consistent, epidemiologic studies have suggested that taller adult height may be associated with an increased risk of some non-Hodgkin lymphoma (NHL) subtypes. Height is largely determined by genetic factors, but how these genetic factors may contribute to NHL risk is unknown. We investigated the relationship between genetic determinants of height and NHL risk using data from eight genome-wide association studies (GWAS) comprising 10,629 NHL cases, including 3,857 diffuse large B-cell lymphoma (DLBCL), 2,847 follicular lymphoma (FL), 3,100 chronic lymphocytic leukemia (CLL), and 825 marginal zone lymphoma (MZL) cases, and 9,505 controls of European ancestry. We evaluated genetically predicted height by constructing polygenic risk scores using 833 height-associated SNPs. We used logistic regression to estimate odds ratios (OR) and 95% confidence intervals (CI) for association between genetically determined height and the risk of four NHL subtypes in each GWAS and then used fixed-effect meta-analysis to combine subtype results across studies. We found suggestive evidence between taller genetically determined height and increased CLL risk (OR = 1.08, 95% CI = 1.00-1.17, p = 0.049), which was slightly stronger among women (OR = 1.15, 95% CI: 1.01-1.31, p = 0.036). No significant associations were observed with DLBCL, FL, or MZL. Our findings suggest that there may be some shared genetic factors between CLL and height, but other endogenous or environmental factors may underlie reported epidemiologic height associations with other subtypes.

Published
2020

10. MTHFR variants reduce the risk of G:C[arrow right]A:T transition mutations within the p53 tumor suppressor gene in colon tumors

Author

Ulrich, C.M., Curtin, K., Samowitz, W., Bigler, J., Potter, J.D., Caan, B., and Slattery, M.L.

Subjects
Colon cancer -- Research, Mutagenesis -- Research, Enzymes -- Research, Food/cooking/nutrition
Abstract

5,10-Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme in folate-mediated 1-carbon metabolism. Reduced MTHFR activity has been associated with genomic DNA hypomethylation. Methylated cytosines at CpG sites are easily mutated and have been implicated in G:C[right arrow]A:T transitions in the p53 tumor suppressor gene. We investigated 2 polymorphisms in the MTHFR gene (C677T and A1298C) and their associations with colon tumor characteristics, including acquired mutations in Ki-ras and p53 genes and microsatellite instability (MSI). The study population comprised 1248 colon cancer cases and 1972 controls, who participated in a population-based case-control study and had been analyzed previously for MSl, acquired mutations in Ki-ras, p53, and germline MTHFR polymorphisms. Multivariable-adjusted odds ratios are presented. Overall, MTHFR genotypes were not associated with MSI status or the presence of any p53 or Ki-ras mutation. Individuals with homozygous variant MTHFR genotypes had a significantly reduced risk of G:C[right arrow]A:T transition mutations within the p53 gene, yet, as hypothesized, only at CpG-associated sites [677TT vs. 677CC (referent group) OR = 0.4 (95% CI: 0.1-0.8) for CpG-associated sites; OR = 1.5 (0.7-3.6) for non-CpG associated sites]. Genotypes conferring reduced MTHFR activity were associated with a decreased risk of acquired G:C[right arrow]A:T mutations within the p53 gene occurring at CpG sites. Consistent with evidence on the phenotypic effect of the MTHFR C677T variant, we hypothesize that this relation may be explained by modestly reduced genomic DNA methylation, resulting in a lower probability of spontaneous deamination of methylated cytosine to thymidine. These results suggest a novel mechanism by which MTHFR polymorphisms can affect the risk of colon cancer. KEY WORDS: * MTHFR * colon cancer * microsatellite instability * mutagenesis * Ki-ras * p53 * folate

Published
2005

13. Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

Author

Din, L., Sheikh, M., Kosaraju, N., Smedby, K.E., Bernatsky, S., Berndt, S.I., Skibola, C.F., Nieters, A., McKay, J.D., Cocco, P., Maynadié, M., Foretová, L., Staines, A., Mack, T.M., de Sanjosé, S., Vyse, T.J., Padyukov, L., Monnereau, A., Arslan, A.A., Moore, A., Brooks-Wilson, A.R., Glimelius, B., Birmann, B.M., Link, B.K., Stewart, C., Vajdic, C.M., Haioun, C., Magnani, C., Conti, D.V., Cox, D.G., Casabonne, D., Albanes, D., Kane, E., Roman, E., Muzi, G., Salles, G., Giles, G.G., Adami, H.-O., Ghesquières, H., De Vivo, I., Clavel, J., Cerhan, J.R., Spinelli, J.J., Vijai, J., Curtin, K., Costenbader, K.H., Onel, K., Offit, K., Teras, L.R., Morton, L., Conde, L., Miligi, L., Melbye, M., Ennas, M.G., Liebow, M., Purdue, M.P., Glenn, M., Southey, M.C., Din, M., Rothman, N., Camp, N.J., Wong Doo, N., Becker, N., Pradhan, N., Bracci, P.M., Boffetta, P., Vineis, P., Brennan, P., Kraft, P., Lan, Q., Severson, R.K., Vermeulen, R.C.H., Milne, R.L., Kaaks, R., Travis, R.C., Weinstein, S.J., Chanock, S.J., Ansell, S.M., Slager, S.L., Zheng, T., Benavente, Y., Taub, Z., Madireddy, L., Gourraud, P.-A., Oksenberg, J.R., Cozen, W., Hjalgrim, H., Khankhanian, P., Din, L., Sheikh, M., Kosaraju, N., Smedby, K.E., Bernatsky, S., Berndt, S.I., Skibola, C.F., Nieters, A., McKay, J.D., Cocco, P., Maynadié, M., Foretová, L., Staines, A., Mack, T.M., de Sanjosé, S., Vyse, T.J., Padyukov, L., Monnereau, A., Arslan, A.A., Moore, A., Brooks-Wilson, A.R., Glimelius, B., Birmann, B.M., Link, B.K., Stewart, C., Vajdic, C.M., Haioun, C., Magnani, C., Conti, D.V., Cox, D.G., Casabonne, D., Albanes, D., Kane, E., Roman, E., Muzi, G., Salles, G., Giles, G.G., Adami, H.-O., Ghesquières, H., De Vivo, I., Clavel, J., Cerhan, J.R., Spinelli, J.J., Vijai, J., Curtin, K., Costenbader, K.H., Onel, K., Offit, K., Teras, L.R., Morton, L., Conde, L., Miligi, L., Melbye, M., Ennas, M.G., Liebow, M., Purdue, M.P., Glenn, M., Southey, M.C., Din, M., Rothman, N., Camp, N.J., Wong Doo, N., Becker, N., Pradhan, N., Bracci, P.M., Boffetta, P., Vineis, P., Brennan, P., Kraft, P., Lan, Q., Severson, R.K., Vermeulen, R.C.H., Milne, R.L., Kaaks, R., Travis, R.C., Weinstein, S.J., Chanock, S.J., Ansell, S.M., Slager, S.L., Zheng, T., Benavente, Y., Taub, Z., Madireddy, L., Gourraud, P.-A., Oksenberg, J.R., Cozen, W., Hjalgrim, H., and Khankhanian, P.

Abstract

Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional genetic of overlap, (b) polygenic risk score (PRS), (c)"diseasome", (d)meta-analysis. Descriptive analysis revealed few shared genetic factors between each AD and each NHL subtype. The PRS of ADs were not increased in NHL patients (nor vice versa). In the diseasome, NHLs shared more genetic etiology with ADs than solid cancers (p = .0041). A meta-analysis (combing AD with NHL) implicated genes of apoptosis and telomere length. This GWAS-based analysis four NHL subtypes and three ADs revealed few weakly-associated shared loci, explaining little total risk. This suggests common genetic variation, as assessed by GWAS in these sample sizes, may not be the primary explanation for the link between these ADs and NHLs.

Published
2019

14. Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes

Author

Din, L, Sheikh, M, Kosaraju, N, Smedby, KE, Bernatsky, S, Berndt, S, Skibola, CF, Nieters, A, Wang, S, McKay, JD, Cocco, P, Maynadie, M, Foretova, L, Staines, A, Mack, TM, de Sanjose, S, Vyse, TJ, Padyukov, L, Monnereau, A, Arslan, AA, Moore, A, Brooks-Wilson, AR, Novak, AJ, Glimelius, B, Birmann, BM, Link, BK, Stewart, C, Vajdic, CM, Haioun, C, Magnani, C, Conti, D, Cox, DG, Casabonne, D, Albanes, D, Kane, E, Roman, E, Muzi, G, Salles, G, Giles, GG, Adami, H-O, Ghesquieres, H, De Vivo, I, Clavel, J, Cerhan, JR, Spinelli, JJ, Hofmann, J, Vijai, J, Curtin, K, Costenbader, KH, Onel, K, Offit, K, Teras, LR, Morton, L, Conde, L, Miligi, L, Melbye, M, Ennas, MG, Liebow, M, Purdue, MP, Glenn, M, Southey, MC, Din, M, Rothman, N, Camp, NJ, Doo, NW, Becker, N, Pradhan, N, Bracci, PM, Boffetta, P, Vineis, P, Brennan, P, Kraft, P, Lan, Q, Severson, RK, Vermeulen, RCH, Milne, RL, Kaaks, R, Travis, RC, Weinstein, SJ, Chanock, SJ, Ansell, SM, Slager, SL, Zheng, T, Zhang, Y, Benavente, Y, Taub, Z, Madireddy, L, Gourraud, P-A, Oksenberg, JR, Cozen, W, Hjalgrim, H, Khankhanian, P, Din, L, Sheikh, M, Kosaraju, N, Smedby, KE, Bernatsky, S, Berndt, S, Skibola, CF, Nieters, A, Wang, S, McKay, JD, Cocco, P, Maynadie, M, Foretova, L, Staines, A, Mack, TM, de Sanjose, S, Vyse, TJ, Padyukov, L, Monnereau, A, Arslan, AA, Moore, A, Brooks-Wilson, AR, Novak, AJ, Glimelius, B, Birmann, BM, Link, BK, Stewart, C, Vajdic, CM, Haioun, C, Magnani, C, Conti, D, Cox, DG, Casabonne, D, Albanes, D, Kane, E, Roman, E, Muzi, G, Salles, G, Giles, GG, Adami, H-O, Ghesquieres, H, De Vivo, I, Clavel, J, Cerhan, JR, Spinelli, JJ, Hofmann, J, Vijai, J, Curtin, K, Costenbader, KH, Onel, K, Offit, K, Teras, LR, Morton, L, Conde, L, Miligi, L, Melbye, M, Ennas, MG, Liebow, M, Purdue, MP, Glenn, M, Southey, MC, Din, M, Rothman, N, Camp, NJ, Doo, NW, Becker, N, Pradhan, N, Bracci, PM, Boffetta, P, Vineis, P, Brennan, P, Kraft, P, Lan, Q, Severson, RK, Vermeulen, RCH, Milne, RL, Kaaks, R, Travis, RC, Weinstein, SJ, Chanock, SJ, Ansell, SM, Slager, SL, Zheng, T, Zhang, Y, Benavente, Y, Taub, Z, Madireddy, L, Gourraud, P-A, Oksenberg, JR, Cozen, W, Hjalgrim, H, and Khankhanian, P

Abstract

Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional genetic of overlap, (b) polygenic risk score (PRS), (c)"diseasome", (d)meta-analysis. Descriptive analysis revealed few shared genetic factors between each AD and each NHL subtype. The PRS of ADs were not increased in NHL patients (nor vice versa). In the diseasome, NHLs shared more genetic etiology with ADs than solid cancers (p = .0041). A meta-analysis (combing AD with NHL) implicated genes of apoptosis and telomere length. This GWAS-based analysis four NHL subtypes and three ADs revealed few weakly-associated shared loci, explaining little total risk. This suggests common genetic variation, as assessed by GWAS in these sample sizes, may not be the primary explanation for the link between these ADs and NHLs.

Published
2019

16. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukemia

Author

Law, PJ, Berndt, SI, Speedy, HE, Camp, NJ, Sava, GP, Skibola, CF, Holroyd, A, Joseph, V, Sunter, NJ, Nieters, A, Bea, S, Monnereau, A, Martin-Garcia, D, Goldin, LR, Clot, G, Teras, LR, Quintela, I, Birmann, BM, Jayne, S, Cozen, W, Majid, A, Smedby, KE, Dearden, C, Brooks-Wilson, AR, Hall, AG, Purdue, MP, Mainou-Fowler, T, Vajdic, CM, Jackson, GH, Cocco, P, Marr, H, Zhang, Y, Zheng, T, Giles, GG, Lawrence, C, Call, TG, Liebow, M, Melbye, M, Glimelius, B, Mansouri, L, Glenn, M, Curtin, K, Diver, WR, Link, BK, Conde, L, Bracci, PM, Holly, EA, Jackson, RD, Tinker, LF, Benavente, Y, Boffetta, P, Brennan, P, Maynadie, M, McKay, J, Albanes, D, Weinstein, S, Wang, Z, Caporaso, NE, Morton, LM, Severson, RK, Riboli, E, Vineis, P, Vermeulen, RCH, Southey, MC, Milne, RL, Clavel, J, Topka, S, Spinelli, JJ, Kraft, P, Grazia Ennas, M, Summerfield, G, Ferri, GM, Harris, RJ, Miligi, L, Pettitt, AR, North, KE, Allsup, DJ, Fraumeni, JF, Bailey, JR, Offit, K, Pratt, G, Hjalgrim, H, Pepper, C, Chanock, SJ, Fegan, C, Rosenquist, R, De Sanjose, S, Carracedo, A, Dyer, MJS, Catovsky, D, Campo, E, Cerhan, JR, Allan, JM, Rothman, N, Houlston, R, and Slager, S

Subjects
RISK, CHROMATIN, Science & Technology, LOCI, VARIANTS, DISEASE, Multidisciplinary Sciences, TRANSCRIPTION FACTORS, MD Multidisciplinary, IMPUTATION, Science & Technology - Other Topics, BREAST-CANCER, COMMON VARIATION, METAANALYSIS
Abstract

Several chronic lymphocytic leukemia (CLL) susceptibility loci have been reported, however much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1000 Genomes and UK10K data, totaling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P = 5.04x10-13), 1q42.13 (rs41271473, P = 1.06x10-10), 4q24 (rs71597109, P = 1.37x10-10), 4q35.1 (rs57214277, P = 3.69x10-8), 6p21.31 (rs3800461, P = 1.97x10-8), 11q23.2 (rs61904987, P = 2.64x10-11), 18q21.1 (rs1036935, P = 3.27x10-8), 19p13.3 (rs7254272, P = 4.67x10-8) and 22q13.33 (rs140522, P = 2.70x10-9). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for key determinants of B-cell development and immune response.

Published
2016

17. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

Author

Law, PJ, Berndt, SI, Speedy, HE, Camp, NJ, Sava, GP, Skibola, CF, Holroyd, A, Joseph, V, Sunter, NJ, Nieters, A, Bea, S, Monnereau, A, Martin-Garcia, D, Goldin, LR, Clot, G, Teras, LR, Quintela, I, Birmann, BM, Jayne, S, Cozen, W, Majid, A, Smedby, KE, Lan, Q, Dearden, C, Brooks-Wilson, AR, Hall, AG, Purdue, MP, Mainou-Fowler, T, Vajdic, CM, Jackson, GH, Cocco, P, Marr, H, Zhang, Y, Zheng, T, Giles, GG, Lawrence, C, Call, TG, Liebow, M, Melbye, M, Glimelius, B, Mansouri, L, Glenn, M, Curtin, K, Diver, WR, Link, BK, Conde, L, Bracci, PM, Holly, EA, Jackson, RD, Tinker, LF, Benavente, Y, Boffetta, P, Brennan, P, Maynadie, M, McKay, J, Albanes, D, Weinstein, S, Wang, Z, Caporaso, NE, Morton, LM, Severson, RK, Riboli, E, Vineis, P, Vermeulen, RCH, Southey, MC, Milne, RL, Clavel, J, Topka, S, Spinelli, JJ, Kraft, P, Ennas, MG, Summerfield, G, Ferri, GM, Harris, RJ, Miligi, L, Pettitt, AR, North, KE, Allsup, DJ, Fraumeni, JF, Bailey, JR, Offit, K, Pratt, G, Hjalgrim, H, Pepper, C, Chanock, SJ, Fegan, C, Rosenquist, R, de Sanjose, S, Carracedo, A, Dyer, MJS, Catovsky, D, Campo, E, Cerhan, JR, Allan, JM, Rothman, N, Houlston, R, Slager, SL, Law, PJ, Berndt, SI, Speedy, HE, Camp, NJ, Sava, GP, Skibola, CF, Holroyd, A, Joseph, V, Sunter, NJ, Nieters, A, Bea, S, Monnereau, A, Martin-Garcia, D, Goldin, LR, Clot, G, Teras, LR, Quintela, I, Birmann, BM, Jayne, S, Cozen, W, Majid, A, Smedby, KE, Lan, Q, Dearden, C, Brooks-Wilson, AR, Hall, AG, Purdue, MP, Mainou-Fowler, T, Vajdic, CM, Jackson, GH, Cocco, P, Marr, H, Zhang, Y, Zheng, T, Giles, GG, Lawrence, C, Call, TG, Liebow, M, Melbye, M, Glimelius, B, Mansouri, L, Glenn, M, Curtin, K, Diver, WR, Link, BK, Conde, L, Bracci, PM, Holly, EA, Jackson, RD, Tinker, LF, Benavente, Y, Boffetta, P, Brennan, P, Maynadie, M, McKay, J, Albanes, D, Weinstein, S, Wang, Z, Caporaso, NE, Morton, LM, Severson, RK, Riboli, E, Vineis, P, Vermeulen, RCH, Southey, MC, Milne, RL, Clavel, J, Topka, S, Spinelli, JJ, Kraft, P, Ennas, MG, Summerfield, G, Ferri, GM, Harris, RJ, Miligi, L, Pettitt, AR, North, KE, Allsup, DJ, Fraumeni, JF, Bailey, JR, Offit, K, Pratt, G, Hjalgrim, H, Pepper, C, Chanock, SJ, Fegan, C, Rosenquist, R, de Sanjose, S, Carracedo, A, Dyer, MJS, Catovsky, D, Campo, E, Cerhan, JR, Allan, JM, Rothman, N, Houlston, R, and Slager, SL

Abstract

Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P=5.04 × 10-13), 1q42.13 (rs41271473, P=1.06 × 10-10), 4q24 (rs71597109, P=1.37 × 10-10), 4q35.1 (rs57214277, P=3.69 × 10-8), 6p21.31 (rs3800461, P=1.97 × 10-8), 11q23.2 (rs61904987, P=2.64 × 10-11), 18q21.1 (rs1036935, P=3.27 × 10-8), 19p13.3 (rs7254272, P=4.67 × 10-8) and 22q13.33 (rs140522, P=2.70 × 10-9). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for the key determinants of B-cell development and immune response.

Published
2017

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

Author

Berndt, SI, Camp, NJ, Skibola, CF, Vijai, J, Wang, Z, Gu, J, Nieters, A, Kelly, RS, Smedby, KE, Monnereau, A, Cozen, W, Cox, A, Wang, SS, Lan, Q, Teras, LR, Machado, M, Yeager, M, Brooks-Wilson, AR, Hartge, P, Purdue, MP, Birmann, BM, Vajdic, CM, Cocco, P, Zhang, Y, Giles, GG, Zeleniuch-Jacquotte, A, Lawrence, C, Montalvan, R, Burdett, L, Hutchinson, A, Ye, Y, Call, TG, Shanafelt, TD, Novak, AJ, Kay, NE, Liebow, M, Cunningham, JM, Allmer, C, Hjalgrim, H, Adami, H-O, Melbye, M, Glimelius, B, Chang, ET, Glenn, M, Curtin, K, Cannon-Albright, LA, Diver, WR, Link, BK, Weiner, GJ, Conde, L, Bracci, PM, Riby, J, Arnett, DK, Zhi, D, Leach, JM, Holly, EA, Jackson, RD, Tinker, LF, Benavente, Y, Sala, N, Casabonne, D, Becker, N, Boffetta, P, Brennan, P, Foretova, L, Maynadie, M, McKay, J, Staines, A, Chaffee, KG, Achenbach, SJ, Vachon, CM, Goldin, LR, Strom, SS, Leis, JF, Weinberg, JB, Caporaso, NE, Norman, AD, De Roos, AJ, Morton, LM, Severson, RK, Riboli, E, Vineis, P, Kaaks, R, Masala, G, Weiderpass, E, Chirlaque, M-D, Vermeulen, RCH, Travis, RC, Southey, MC, Milne, RL, Albanese, D, Virtamo, J, Weinstein, S, Clavel, J, Zheng, T, Holford, TR, Villano, DJ, Maria, A, Spinelli, JJ, Gascoyne, RD, Connors, JM, Bertrand, KA, Giovannucci, E, Kraft, P, Kricker, A, Turner, J, Ennas, MG, Ferri, GM, Miligi, L, Liang, L, Ma, B, Huang, J, Crouch, S, Park, J-H, Chatterjee, N, North, KE, Snowden, JA, Wright, J, Fraumeni, JF, Offit, K, Wu, X, de Sanjose, S, Cerhan, JR, Chanock, SJ, Rothman, N, Slager, SL, Berndt, SI, Camp, NJ, Skibola, CF, Vijai, J, Wang, Z, Gu, J, Nieters, A, Kelly, RS, Smedby, KE, Monnereau, A, Cozen, W, Cox, A, Wang, SS, Lan, Q, Teras, LR, Machado, M, Yeager, M, Brooks-Wilson, AR, Hartge, P, Purdue, MP, Birmann, BM, Vajdic, CM, Cocco, P, Zhang, Y, Giles, GG, Zeleniuch-Jacquotte, A, Lawrence, C, Montalvan, R, Burdett, L, Hutchinson, A, Ye, Y, Call, TG, Shanafelt, TD, Novak, AJ, Kay, NE, Liebow, M, Cunningham, JM, Allmer, C, Hjalgrim, H, Adami, H-O, Melbye, M, Glimelius, B, Chang, ET, Glenn, M, Curtin, K, Cannon-Albright, LA, Diver, WR, Link, BK, Weiner, GJ, Conde, L, Bracci, PM, Riby, J, Arnett, DK, Zhi, D, Leach, JM, Holly, EA, Jackson, RD, Tinker, LF, Benavente, Y, Sala, N, Casabonne, D, Becker, N, Boffetta, P, Brennan, P, Foretova, L, Maynadie, M, McKay, J, Staines, A, Chaffee, KG, Achenbach, SJ, Vachon, CM, Goldin, LR, Strom, SS, Leis, JF, Weinberg, JB, Caporaso, NE, Norman, AD, De Roos, AJ, Morton, LM, Severson, RK, Riboli, E, Vineis, P, Kaaks, R, Masala, G, Weiderpass, E, Chirlaque, M-D, Vermeulen, RCH, Travis, RC, Southey, MC, Milne, RL, Albanese, D, Virtamo, J, Weinstein, S, Clavel, J, Zheng, T, Holford, TR, Villano, DJ, Maria, A, Spinelli, JJ, Gascoyne, RD, Connors, JM, Bertrand, KA, Giovannucci, E, Kraft, P, Kricker, A, Turner, J, Ennas, MG, Ferri, GM, Miligi, L, Liang, L, Ma, B, Huang, J, Crouch, S, Park, J-H, Chatterjee, N, North, KE, Snowden, JA, Wright, J, Fraumeni, JF, Offit, K, Wu, X, de Sanjose, S, Cerhan, JR, Chanock, SJ, Rothman, N, and Slager, SL

Abstract

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10(-11)), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10(-8)) and 3q28 (rs9815073, LPP, P=3.62 × 10(-8)), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10(-11)) in the combined analysis. We find suggestive evidence (P<5 × 10(-7)) for two additional new loci at 4q24 (rs10028805, BANK1, P=7.19 × 10(-8)) and 3p22.2 (rs1274963, CSRNP1, P=2.12 × 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.

Published
2016

20. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Author

Berndt, S.I., Skibola, C.F., Joseph, V., Camp, N.J., Nieters, A., Wang, Z., Cozen, W., Monnereau, A., Wang, S.S., Kelly, R.S., Lan, Q., Teras, L.R., Chatterjee, N., Chung, C.C., Yeager, M., Brooks-Wilson, A.R., Hartge, P., Purdue, M.P., Birmann, B.M., Armstrong, B.K., Cocco, P., Zhang, Y., Severi, G., Zeleniuch-Jacquotte, A., Lawrence, C., Burdette, L., Yuenger, J., Hutchinson, A., Jacobs, K.B., Call, T.G., Shanafelt, T.D., Novak, A.J., Kay, N.E., Liebow, M., Wang, A.H., Smedby, K.E., Adami, H.-O., Melbye, M., Glimelius, B., Chang, E.T., Glenn, M., Curtin, K., Cannon-Albright, L.A., Jones, B., Diver, W.R., Link, B.K., Weiner, G.J., Conde, L., Bracci, P.M., Riby, J., Holly, E.A., Smith, M.T., Jackson, R.D., Tinker, L.F., Benavente, Y., Becker, N., Boffetta, P., Brennan, P., Foretova, L., Maynadie, M., McKay, J., Staines, A., Rabe, K.G., Achenbach, S.J., Vachon, C.M., Goldin, L.R., Strom, S.S., Lanasa, M.C., Spector, L.G., Leis, J.F., Cunningham, J.M., Weinberg, J.B., Morrison, V.A., Caporaso, N.E., Norman, A.D., Linet, M.S., De Roos, A.J., Morton, L.M., Severson, R.K., Riboli, E., Vineis, P., Kaaks, R., Trichopoulos, D., Masala, G., Weiderpass, E., Chirlaque, M.-D., Vermeulen, R.C.H., Travis, R.C., Giles, G.G., Albanes, D., Virtamo, J., Weinstein, S., Clavel, J., Zheng, T., Holford, T.R., Offit, K., Zelenetz, A., Klein, R.J., Spinelli, J.J., Bertrand, K.A., Laden, F., Giovannucci, E., Kraft, P., Kricker, A., Turner, J., Vajdic, C.M., Ennas, M.G., Ferri, G.M., Miligi, L., Liang, L., Sampson, J., Crouch, S., Park, J.-H., North, K.E., Cox, A., Snowden, J.A., Wright, J., Carracedo, A., Lopez-Otin, C., Bea, S., Salaverria, I., Martin-Garcia, D., Campo, E., Jr, F.J.F., de Sanjose, S., Hjalgrim, H., Cerhan, J.R., Chanock, S.J., Rothman, N., and Slager, S.L.

Abstract

Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 × 10−14), 18q21.33 (BCL2, P = 7.76 × 10−11), 11p15.5 (C11orf21, P = 2.15 × 10−10), 4q25 (LEF1, P = 4.24 × 10−10), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 × 10−9), 9p21.3 (CDKN2B-AS1, P = 1.27 × 10−8), 18q21.32 (PMAIP1, P = 2.51 × 10−8), 15q15.1 (BMF, P = 2.71 × 10−10) and 2p22.2 (QPCT, P = 1.68 × 10−8), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 × 10−18). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 × 10−8) and 5p15.33 (TERT, P = 1.92 × 10−7). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.

Published
2013

21. Phospholipase A2A polymorphisms and risk of colorectal neoplasia

Author

Abbenhardt, C, Poole, EM, Xiao, L, Slattery, ML, Galbraith, RL, Duggan, D, Makar, KW, Kulmacz, RJ, Curtin, K, Potter, JD, Caan, BJ, Muehling, J, Taverna, D, Carlson, CS, and Ulrich, CM

Subjects
ddc: 610, lipids (amino acids, peptides, and proteins), colorectal cancer, 610 Medical sciences, Medicine, polymorphisms, SNPs
Abstract

Introduction: Pancreatic phospholipase A2 (also known as PLA2G1B or PLA2A) catalyzes the release of fatty acids from dietary phospholipids for adsorption in the small intestine. Some of the polyunsaturated fatty acids removed from the intestinal lumen are precursors to eicosanoids, which are linked [for full text, please go to the a.m. URL], Mainz//2011; 56. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds), 6. Jahrestagung der Deutschen Gesellschaft für Epidemiologie (DGEpi)

Published
2011
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22. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

Author

Berndt, SI, Skibola, CF, Joseph, V, Camp, NJ, Nieters, A, Wang, Z, Cozen, W, Monnereau, A, Wang, SS, Kelly, RS, Lan, Q, Teras, LR, Chatterjee, N, Chung, CC, Yeager, M, Brooks-Wilson, AR, Hartge, P, Purdue, MP, Birmann, BM, Armstrong, BK, Cocco, P, Zhang, Y, Severi, G, Zeleniuch-Jacquotte, A, Lawrence, C, Burdette, L, Yuenger, J, Hutchinson, A, Jacobs, KB, Call, TG, Shanafelt, TD, Novak, AJ, Kay, NE, Liebow, M, Wang, AH, Smedby, KE, Adami, H-O, Melbye, M, Glimelius, B, Chang, ET, Glenn, M, Curtin, K, Cannon-Albright, LA, Jones, B, Diver, WR, Link, BK, Weiner, GJ, Conde, L, Bracci, PM, Riby, J, Holly, EA, Smith, MT, Jackson, RD, Tinker, LF, Benavente, Y, Becker, N, Boffetta, P, Brennan, P, Foretova, L, Maynadie, M, McKay, J, Staines, A, Rabe, KG, Achenbach, SJ, Vachon, CM, Goldin, LR, Strom, SS, Lanasa, MC, Spector, LG, Leis, JF, Cunningham, JM, Weinberg, JB, Morrison, VA, Caporaso, NE, Norman, AD, Linet, MS, De Roos, AJ, Morton, LM, Severson, RK, Riboli, E, Vineis, P, Kaaks, R, Trichopoulos, D, Masala, G, Weiderpass, E, Chirlaque, M-D, Vermeulen, RCH, Travis, RC, Giles, GG, Albanes, D, Virtamo, J, Weinstein, S, Clavel, J, Zheng, T, Holford, TR, Offit, K, Zelenetz, A, Klein, RJ, Spinelli, JJ, Bertrand, KA, Laden, F, Giovannucci, E, Kraft, P, Kricker, A, Turner, J, Vajdic, CM, Ennas, MG, Ferri, GM, Miligi, L, Liang, L, Sampson, J, Crouch, S, Park, J-H, North, KE, Cox, A, Snowden, JA, Wright, J, Carracedo, A, Lopez-Otin, C, Bea, S, Salaverria, I, Martin-Garcia, D, Campo, E, Fraumeni, JF, de Sanjose, S, Hjalgrim, H, Cerhan, JR, Chanock, SJ, Rothman, N, Slager, SL, Berndt, SI, Skibola, CF, Joseph, V, Camp, NJ, Nieters, A, Wang, Z, Cozen, W, Monnereau, A, Wang, SS, Kelly, RS, Lan, Q, Teras, LR, Chatterjee, N, Chung, CC, Yeager, M, Brooks-Wilson, AR, Hartge, P, Purdue, MP, Birmann, BM, Armstrong, BK, Cocco, P, Zhang, Y, Severi, G, Zeleniuch-Jacquotte, A, Lawrence, C, Burdette, L, Yuenger, J, Hutchinson, A, Jacobs, KB, Call, TG, Shanafelt, TD, Novak, AJ, Kay, NE, Liebow, M, Wang, AH, Smedby, KE, Adami, H-O, Melbye, M, Glimelius, B, Chang, ET, Glenn, M, Curtin, K, Cannon-Albright, LA, Jones, B, Diver, WR, Link, BK, Weiner, GJ, Conde, L, Bracci, PM, Riby, J, Holly, EA, Smith, MT, Jackson, RD, Tinker, LF, Benavente, Y, Becker, N, Boffetta, P, Brennan, P, Foretova, L, Maynadie, M, McKay, J, Staines, A, Rabe, KG, Achenbach, SJ, Vachon, CM, Goldin, LR, Strom, SS, Lanasa, MC, Spector, LG, Leis, JF, Cunningham, JM, Weinberg, JB, Morrison, VA, Caporaso, NE, Norman, AD, Linet, MS, De Roos, AJ, Morton, LM, Severson, RK, Riboli, E, Vineis, P, Kaaks, R, Trichopoulos, D, Masala, G, Weiderpass, E, Chirlaque, M-D, Vermeulen, RCH, Travis, RC, Giles, GG, Albanes, D, Virtamo, J, Weinstein, S, Clavel, J, Zheng, T, Holford, TR, Offit, K, Zelenetz, A, Klein, RJ, Spinelli, JJ, Bertrand, KA, Laden, F, Giovannucci, E, Kraft, P, Kricker, A, Turner, J, Vajdic, CM, Ennas, MG, Ferri, GM, Miligi, L, Liang, L, Sampson, J, Crouch, S, Park, J-H, North, KE, Cox, A, Snowden, JA, Wright, J, Carracedo, A, Lopez-Otin, C, Bea, S, Salaverria, I, Martin-Garcia, D, Campo, E, Fraumeni, JF, de Sanjose, S, Hjalgrim, H, Cerhan, JR, Chanock, SJ, Rothman, N, and Slager, SL

Abstract

Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P=1.22×10(-14)), 18q21.33 (BCL2, P=7.76×10(-11)), 11p15.5 (C11orf21, P=2.15×10(-10)), 4q25 (LEF1, P=4.24×10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P=2.50×10(-9)), 9p21.3 (CDKN2B-AS1, P=1.27×10(-8)), 18q21.32 (PMAIP1, P=2.51×10(-8)), 15q15.1 (BMF, P=2.71×10(-10)) and 2p22.2 (QPCT, P=1.68×10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P=2.08×10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P=5.40×10(-8)) and 5p15.33 (TERT, P=1.92×10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.

Published
2013

23. Characterization of the association between 8q24 and colon cancer: Gene-environment exploration and meta-analysis

Author

Hutter, CM, Slattery, ML, Duggan, DJ, Muehling, J, Curtin, K, Hsu, L, Beresford, SAA, Rajkovic, A, Sarto, GE, Marshall, JR, Hammad, N, Wallace, R, Makar, KW, Prentice, RL, Caan, BJ, Potter, JD, Peters, U, Hutter, CM, Slattery, ML, Duggan, DJ, Muehling, J, Curtin, K, Hsu, L, Beresford, SAA, Rajkovic, A, Sarto, GE, Marshall, JR, Hammad, N, Wallace, R, Makar, KW, Prentice, RL, Caan, BJ, Potter, JD, and Peters, U

Abstract

Background: Genome-wide association studies and subsequent replication studies have shown that single nucleotide polymorphisms (SNPs) in the chromosomal region 8q24 are associated with colorectal cancer susceptibility.Methods: We examined 11 SNP markers in the 8q24 region between 128.47 and 128.54 Mb, using a total of 1,987 colon cases and 2,339 controls who self-reported as white from two independent, well-characterized study populations. Analysis was performed separately within each study, and combined using random effects meta-analysis. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs) and to test for effect modification by known colon cancer risk factors. We also performed a meta-analysis combining our results with previous studies.Results: We observed evidence of association for four SNPs in low to high linkage disequilibrium (r2 ranging from 0.18 to 0.93) localized in a 16.2 kb region defined by rs10505477 and rs1056368. The combined results for our two studies of colon cancer showed an OR of 1.10 (95% CI: 1.01-1.20, Ptrend = 0.023), and a meta-analysis of our results with previously reported studies of colon and colorectal cancer strongly support the association for this SNP (combined OR for rs6983267 = 1.21, 95% CI: 1.18-1.24, p = 5.5 × 10-44). We did not observe any notable evidence of effect modification by known colon cancer risk factors, and risk did not differ significantly by tumor site or stage.Conclusions: Our study confirms the association between polymorphisms on chromosome 8q24 and colon cancer risk and suggests that the susceptibility locus in region 8q24 is not strongly modified by various lifestyle, environmental, and demographic risk factors for colon cancer. © 2010 Hutter et al; licensee BioMed Central Ltd.

Published
2010

32. Modifying effects of IL-6 polymorphisms on body size-associated breast cancer risk.

Author

Slattery ML, Curtin K, Sweeney C, Wolff RK, Baumgartner RN, Baumgartner KB, Giuliano AR, Byers T, Slattery, Martha L, Curtin, Karen, Sweeney, Carol, Wolff, Roger K, Baumgartner, Richard N, Baumgartner, Kathy B, Giuliano, Anna R, and Byers, Tim

Abstract

Objective: The association between obesity and breast cancer risk is complex. We examined whether the association between body size and breast cancer risk is modified by interleukin-6 (IL6) genotype.Methods and Procedures: Five polymorphisms in the IL-6 gene (rs1800797/-596A>G, rs1800796/-572G>C, rs1800795/-174G>C, rs2069832/IVS2G>A, and rs2069849 exon 5 C>T) were studied. We investigated IL6 genotypes and haplotypes with indicators of body size among non-Hispanic white (NHW) and Hispanic/American Indian (AI) breast cancer cases and controls living in the Southwestern United States.Results: We observed lower mean levels of BMI among NHW women who carried one or two copies of the GGCAC haplotype (in order: rs1800797, rs1800796, rs1800795, rs2069832, and rs2069849; P trend 0.02). This haplotype, with an estimated frequency of 43% in NHW study controls, was considerably less common in Hispanic/AI controls (19%). We did not detect significant interactions between IL6 genotypes or haplotypes and BMI categorized as low/normal (<25), overweight (25 to <30), or obese (> or =30) and breast cancer risk in either NHW or Hispanic/AI women. However, we detected consistent and significant interactions between waist-to-hip ratio (WHR) and IL6 rs1800795/-174 G>C genotype for breast cancer risk. These associations were restricted to postmenopausal NHW women. Among women without recent hormone exposure, those with a WHR >0.9 and the rs1800795 GG genotype had a greater than threefold increased risk of breast cancer (odds ratios (ORs) 3.22, 95% confidence intervals (CIs) 1.27, 817) when compared with women with a WHR <0.8 and the rs1800795 GG genotype (P interaction 0.01).Discussion: These data suggest that IL-6 genotypes may influence breast cancer risk in conjunction with central adiposity. [ABSTRACT FROM AUTHOR]

Published
2008
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34. Physician reactions to quantitative individual performance reports.

Author

Beckman H, Suchman AL, Curtin K, and Greene RA

Abstract

The purpose of this study was to learn how primary care physicians experienced the introduction and evolution of an individual physician pay-for-performance program. Thirty primary care physicians participated in audiotaped focus groups 13 and 26 months after beginning the program. Transcribed audiotapes were used to group comments into themes. Ten thematic groups were identified. Practitioners reviewed their profiles but found it difficult to use them to change behaviors. They were concerned about the data accuracy, the influence of specialists and patients on their 'scores,' and, less, the validity of quality measures. They described ways the program changed their practices and consideration of cost, quality, and satisfaction. There were important concerns about the influence of pay-for-performance programs on professionalism. Primary care physicians were skeptical of this pay-for-performance program. On the other hand, physicians described positive influences on making improvements in quality, satisfaction, and practice efficiency. [ABSTRACT FROM AUTHOR]

Published
2006

35. Associations between cigarette smoking, lifestyle factors, and microsatellite instability in colon tumors.

Author

Slattery, Martha L., Curtin, Karen, Slattery, M L, Curtin, K, Anderson, K, Ma, K N, Ballard, L, Edwards, S, Schaffer, D, Potter, J, Leppert, M, and Samowitz, W S

Subjects
COLON cancer risk factors, SMOKING, LIFESTYLES, MICROSATELLITE repeats, HEALTH
Abstract

Background: Microsatellite instability (MSI) has been reported to occur in approximately 10%-15% of colon tumors. MSI is characterized by the presence of mutations in tandemly repeated DNA sequences known as microsatellites. Some individuals with unstable tumors have inherited mutations in mismatch repair genes, but MSI is also observed in sporadic colon cancer. It is unknown whether lifestyle factors associated with colon cancer, such as physical activity, body size, cigarette smoking, or use of aspirin and/or nonsteroidal anti-inflammatory drugs, contribute to MSI in sporadic tumors.Methods: Data from a population-based, case-control study of colon cancer were used. Case subjects were between 30 and 79 years of age at the time of diagnosis and included both men and women. Questionnaire data were used to obtain information on lifestyle factors. Tumor MSI was determined with the use of a panel of 10 tetranucleotide repeats and two mononucleotide repeats. A total of 1510 case subjects had valid questionnaire data and tumor DNA from which we were able to obtain MSI status. Questionnaire data were compared with lifestyle factors reported by 2410 population-based control subjects. All statistical tests were two-sided.Results: MSI-positive (MSI(+)) tumors were most common in older people and women and in the proximal colon. Patients with MSI(+) tumors were more likely to smoke 20 or more cigarettes a day than case subjects with MSI-negative (MSI(-)) tumors (odds ratio for being a smoker = 1.6 [95% confidence interval = 1.0-2.5] for men and 2.2 [95% confidence interval = 1.4-3.5] for women). The association between MSI(+) tumors and cigarette smoking was strongest among case subjects who started to smoke at a young age, smoked for 35 or more years, and were either current smokers or had stopped fewer than 15 years before diagnosis. A statistically significant linear trend of increased risk of MSI(+) tumors was observed with increasing amount smoked (P<.01).Conclusions: This study suggests that smoking cigarettes statistically significantly contributes to MSI in colon tumors. We estimate that approximately 21% of MSI in colon tumors may be attributable to cigarette smoking. [ABSTRACT FROM AUTHOR]

Published
2000
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36. Index

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

37. Frontmatter

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

38. Notes

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

39. Cover

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

41. Bibliography

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

46. ONE. Introduction

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

49. Acknowledgments

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

50. List of Figures

Author

Holmes, Jennifer S., Gutiérrez de Piñeres, Sheila Amin, and Curtin, Kevin M.

Published
2008

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