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Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: a meta-analysis of genome-wide association studies (2012)

Abnet, C. C., Wang, Z., Song, X., Hu, N., Zhou, F.-Y., Freedman, N. D., Li, X.-M., Yu, K., Shu, X.-O., Yuan, J.-M., Zheng, W., Dawsey, S. M., Liao, L. M., Lee, M. P., Ding, T., Qiao, Y.-L., Gao, Y.-T., Koh, W.-P., Xiang, Y.-B., Tang, Z.-Z., Fan, J.-H., Chung, C. C., Wang, C., Wheeler, W., Yeager, M., Yuenger, J., Hutchinson, A., Jacobs, K. B., Giffen, C. A., Burdett, L., Fraumeni, J. F., Tucker, M. A., Chow, W.-H., Zhao, X.-K., Li, J.-M., Li, A.-L., Sun, L.-D., Wei, W., Li, J.-L., Zhang, P., Li, H.-L., Cui, W.-Y., Wang, W.-P., Liu, Z.-C., Yang, X., Fu, W.-J., Cui, J.-L., Lin, H.-L., Zhu, W.-L., Liu, M., Chen, X., Chen, J., Guo, L., Han, J.-J., Zhou, S.-L., Huang, J., Wu, Y., Yuan, C., Huang, J., Ji, A.-F., Kul, J.-W., Fan, Z.-M., Wang, J.-P., Zhang, D.-Y., Zhang, L.-Q., Zhang, W., Chen, Y.-F., Ren, J.-L., Li, X.-M., Dong, J.-C., Xing, G.-L., Guo, Z.-G., Yang, J.-X., Mao, Y.-M., Yuan, Y., Guo, E.-T., Zhang, W., Hou, Z.-C., Liu, J., Li, Y., Tang, S., Chang, J., Peng, X.-Q., Han, M., Yin, W.-L., Liu, Y.-L., Hu, Y.-L., Liu, Y., Yang, L.-Q., Zhu, F.-G., Yang, X.-F., Feng, X.-S., Wang, Z., Li, Y., Gao, S.-G., Liu, H.-L., Yuan, L., Jin, Y., Zhang, Y.-R., Sheyhidin, I., Li, F., Chen, B.-P., Ren, S.-W., Liu, B., Li, D., Zhang, G.-F., Yue, W.-B., Feng, C.-W., Qige, Q., Zhao, J.-T., Yang, W.-J., Lei, G.-Y., Chen, L.-Q., Li, E.-M., Xu, L.-Y., Wu, Z.-Y., Bao, Z.-Q., Chen, J.-L., Li, X.-C., Zhuang, X., Zhou, Y.-F., Zuo, X.-B., Dong, Z.-M., Wang, L.-W., Fan, X.-P., Wang, J., Zhou, Q., Ma, G.-S., Zhang, Q.-X., Liu, H., Jian, X.-Y., Lian, S.-Y., Wang, J.-S., Chang, F.-B., Lu, C.-D., Miao, J.-J., Chen, Z.-G., Wang, R., Guo, M., Fan, Z.-L., Tao, P., Liu, T.-J., Wei, J.-C., Kong, Q.-P., Fan, L., Wang, X.-Z., Gao, F.-S., Wang, T.-Y., Xie, D., Wang, L., Chen, S.-Q., Yang, W.-C., Hong, J.-Y., Wang, L., Qiu, S.-L., Goldstein, A. M., Yuan, Z.-Q., Chanock, S. J., Zhang, X.-J., Taylor, P. R., Wang, L.-D.

Oxford University Press

In: Human Molecular Genetics

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Publikationsdatum: 2012-04-12

Beschreibung: Genome-wide association studies have identified susceptibility loci for esophageal squamous cell carcinoma (ESCC). We conducted a meta-analysis of all single-nucleotide polymorphisms (SNPs) that showed nominally significant P -values in two previously published genome-wide scans that included a total of 2961 ESCC cases and 3400 controls. The meta-analysis revealed five SNPs at 2q33 with P 〈 5 x 10 –8 , and the strongest signal was rs13016963, with a combined odds ratio (95% confidence interval) of 1.29 (1.19–1.40) and P = 7.63 x 10 –10 . An imputation analysis of 4304 SNPs at 2q33 suggested a single association signal, and the strongest imputed SNP associations were similar to those from the genotyped SNPs. We conducted an ancestral recombination graph analysis with 53 SNPs to identify one or more haplotypes that harbor the variants directly responsible for the detected association signal. This showed that the five SNPs exist in a single haplotype along with 45 imputed SNPs in strong linkage disequilibrium, and the strongest candidate was rs10201587, one of the genotyped SNPs. Our meta-analysis found genome-wide significant SNPs at 2q33 that map to the CASP8 / ALS2CR12/TRAK2 gene region. Variants in CASP8 have been extensively studied across a spectrum of cancers with mixed results. The locus we identified appears to be distinct from the widely studied rs3834129 and rs1045485 SNPs in CASP8 . Future studies of esophageal and other cancers should focus on comprehensive sequencing of this 2q33 locus and functional analysis of rs13016963 and rs10201587 and other strongly correlated variants.

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Thema: Biologie , Medizin

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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33 (2014)

Wang, Z., Zhu, B., Zhang, M., Parikh, H., Jia, J., Chung, C. C., Sampson, J. N., Hoskins, J. W., Hutchinson, A., Burdette, L., Ibrahim, A., Hautman, C., Raj, P. S., Abnet, C. C., Adjei, A. A., Ahlbom, A., Albanes, D., Allen, N. E., Ambrosone, C. B., Aldrich, M., Amiano, P., Amos, C., Andersson, U., Andriole, G., Andrulis, I. L., Arici, C., Arslan, A. A., Austin, M. A., Baris, D., Barkauskas, D. A., Bassig, B. A., Beane Freeman, L. E., Berg, C. D., Berndt, S. I., Bertazzi, P. A., Biritwum, R. B., Black, A., Blot, W., Boeing, H., Boffetta, P., Bolton, K., Boutron-Ruault, M.-C., Bracci, P. M., Brennan, P., Brinton, L. A., Brotzman, M., Bueno-de-Mesquita, H. B., Buring, J. E., Butler, M. A., Cai, Q., Cancel-Tassin, G., Canzian, F., Cao, G., Caporaso, N. E., Carrato, A., Carreon, T., Carta, A., Chang, G.-C., Chang, I.-S., Chang-Claude, J., Che, X., Chen, C.-J., Chen, C.-Y., Chen, C.-H., Chen, C., Chen, K.-Y., Chen, Y.-M., Chokkalingam, A. P., Chu, L. W., Clavel-Chapelon, F., Colditz, G. A., Colt, J. S., Conti, D., Cook, M. B., Cortessis, V. K., Crawford, E. D., Cussenot, O., Davis, F. G., De Vivo, I., Deng, X., Ding, T., Dinney, C. P., Di Stefano, A. L., Diver, W. R., Duell, E. J., Elena, J. W., Fan, J.-H., Feigelson, H. S., Feychting, M., Figueroa, J. D., Flanagan, A. M., Fraumeni, J. F., Freedman, N. D., Fridley, B. L., Fuchs, C. S., Gago-Dominguez, M., Gallinger, S., Gao, Y.-T., Gapstur, S. M., Garcia-Closas, M., Garcia-Closas, R., Gastier-Foster, J. M., Gaziano, J. M., Gerhard, D. S., Giffen, C. A., Giles, G. G., Gillanders, E. M., Giovannucci, E. L., Goggins, M., Gokgoz, N., Goldstein, A. M., Gonzalez, C., Gorlick, R., Greene, M. H., Gross, M., Grossman, H. B., Grubb, R., Gu, J., Guan, P., Haiman, C. A., Hallmans, G., Hankinson, S. E., Harris, C. C., Hartge, P., Hattinger, C., Hayes, R. B., He, Q., Helman, L., Henderson, B. E., Henriksson, R., Hoffman-Bolton, J., Hohensee, C., Holly, E. A., Hong, Y.-C., Hoover, R. N., Hosgood, H. D., Hsiao, C.-F., Hsing, A. W., Hsiung, C. A., Hu, N., Hu, W., Hu, Z., Huang, M.-S., Hunter, D. J., Inskip, P. D., Ito, H., Jacobs, E. J., Jacobs, K. B., Jenab, M., Ji, B.-T., Johansen, C., Johansson, M., Johnson, A., Kaaks, R., Kamat, A. M., Kamineni, A., Karagas, M., Khanna, C., Khaw, K.-T., Kim, C., Kim, I.-S., Kim, J. H., Kim, Y. H., Kim, Y.-C., Kim, Y. T., Kang, C. H., Jung, Y. J., Kitahara, C. M., Klein, A. P., Klein, R., Kogevinas, M., Koh, W.-P., Kohno, T., Kolonel, L. N., Kooperberg, C., Kratz, C. P., Krogh, V., Kunitoh, H., Kurtz, R. C., Kurucu, N., Lan, Q., Lathrop, M., Lau, C. C., Lecanda, F., Lee, K.-M., Lee, M. P., Le Marchand, L., Lerner, S. P., Li, D., Liao, L. M., Lim, W.-Y., Lin, D., Lin, J., Lindstrom, S., Linet, M. S., Lissowska, J., Liu, J., Ljungberg, B., Lloreta, J., Lu, D., Ma, J., Malats, N., Mannisto, S., Marina, N., Mastrangelo, G., Matsuo, K., McGlynn, K. A., McKean-Cowdin, R., McNeill, L. H., McWilliams, R. R., Melin, B. S., Meltzer, P. S., Mensah, J. E., Miao, X., Michaud, D. S., Mondul, A. M., Moore, L. E., Muir, K., Niwa, S., Olson, S. H., Orr, N., Panico, S., Park, J. Y., Patel, A. V., Patino-Garcia, A., Pavanello, S., Peeters, P. H. M., Peplonska, B., Peters, U., Petersen, G. M., Picci, P., Pike, M. C., Porru, S., Prescott, J., Pu, X., Purdue, M. P., Qiao, Y.-L., Rajaraman, P., Riboli, E., Risch, H. A., Rodabough, R. J., Rothman, N., Ruder, A. M., Ryu, J.-S., Sanson, M., Schned, A., Schumacher, F. R., Schwartz, A. G., Schwartz, K. L., Schwenn, M., Scotlandi, K., Seow, A., Serra, C., Serra, M., Sesso, H. D., Severi, G., Shen, H., Shen, M., Shete, S., Shiraishi, K., Shu, X.-O., Siddiq, A., Sierrasesumaga, L., Sierri, S., Loon Sihoe, A. D., Silverman, D. T., Simon, M., Southey, M. C., Spector, L., Spitz, M., Stampfer, M., Stattin, P., Stern, M. C., Stevens, V. L., Stolzenberg-Solomon, R. Z., Stram, D. O., Strom, S. S., Su, W.-C., Sund, M., Sung, S. W., Swerdlow, A., Tan, W., Tanaka, H., Tang, W., Tang, Z.-Z., Tardon, A., Tay, E., Taylor, P. R., Tettey, Y., Thomas, D. M., Tirabosco, R., Tjonneland, A., Tobias, G. S., Toro, J. R., Travis, R. C., Trichopoulos, D., Troisi, R., Truelove, A., Tsai, Y.-H., Tucker, M. A., Tumino, R., Van Den Berg, D., Van Den Eeden, S. K., Vermeulen, R., Vineis, P., Visvanathan, K., Vogel, U., Wang, C., Wang, C., Wang, J., Wang, S. S., Weiderpass, E., Weinstein, S. J., Wentzensen, N., Wheeler, W., White, E., Wiencke, J. K., Wolk, A., Wolpin, B. M., Wong, M. P., Wrensch, M., Wu, C., Wu, T., Wu, X., Wu, Y.-L., Wunder, J. S., Xiang, Y.-B., Xu, J., Yang, H. P., Yang, P.-C., Yatabe, Y., Ye, Y., Yeboah, E. D., Yin, Z., Ying, C., Yu, C.-J., Yu, K., Yuan, J.-M., Zanetti, K. A., Zeleniuch-Jacquotte, A., Zheng, W., Zhou, B., Mirabello, L., Savage, S. A., Kraft, P., Chanock, S. J., Yeager, M., Landi, M. T., Shi, J., Chatterjee, N., Amundadottir, L. T.

Oxford University Press

In: Human Molecular Genetics

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Publikationsdatum: 2014-11-21

Beschreibung: Genome-wide association studies (GWAS) have mapped risk alleles for at least 10 distinct cancers to a small region of 63 000 bp on chromosome 5p15.33. This region harbors the TERT and CLPTM1L genes; the former encodes the catalytic subunit of telomerase reverse transcriptase and the latter may play a role in apoptosis. To investigate further the genetic architecture of common susceptibility alleles in this region, we conducted an agnostic subset-based meta-analysis (association analysis based on subsets) across six distinct cancers in 34 248 cases and 45 036 controls. Based on sequential conditional analysis, we identified as many as six independent risk loci marked by common single-nucleotide polymorphisms: five in the TERT gene (Region 1: rs7726159, P = 2.10 x 10 –39 ; Region 3: rs2853677, P = 3.30 x 10 –36 and P Conditional = 2.36 x 10 –8 ; Region 4: rs2736098, P = 3.87 x 10 –12 and P Conditional = 5.19 x 10 –6 , Region 5: rs13172201, P = 0.041 and P Conditional = 2.04 x 10 –6 ; and Region 6: rs10069690, P = 7.49 x 10 –15 and P Conditional = 5.35 x 10 –7 ) and one in the neighboring CLPTM1L gene (Region 2: rs451360; P = 1.90 x 10 –18 and P Conditional = 7.06 x 10 –16 ). Between three and five cancers mapped to each independent locus with both risk-enhancing and protective effects. Allele-specific effects on DNA methylation were seen for a subset of risk loci, indicating that methylation and subsequent effects on gene expression may contribute to the biology of risk variants on 5p15.33. Our results provide strong support for extensive pleiotropy across this region of 5p15.33, to an extent not previously observed in other cancer susceptibility loci.

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Thema: Biologie , Medizin

Publiziert von Oxford University Press

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Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33 (2014)

Wang, Z. ; Zhu, B. ; Zhang, M. ; [weitere]

Oxford University Press

In: Human Molecular Genetics. 2014; 23(24): 6616-6633. Published 2014 Jul 15. doi: 10.1093/hmg/ddu363.

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Publikationsdatum: 2014-07-15

Print ISSN: 0964-6906

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Thema: Biologie , Medizin

Publiziert von Oxford University Press

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A genome-wide scan for common alleles affecting risk for autism (2010)

Anney, R. ; Klei, L. ; Pinto, D. ; [weitere]

Oxford University Press

In: Human Molecular Genetics. 2010; 19(20): 4072-4082. Published 2010 Jul 27. doi: 10.1093/hmg/ddq307.

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Publikationsdatum: 2010-07-27

Print ISSN: 0964-6906

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Thema: Biologie , Medizin

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Shared genetics underlying epidemiological association between endometriosis and ovarian cancer (2015)

Lu, Y., Cuellar-Partida, G., Painter, J. N., Nyholt, D. R., Australian Ovarian Cancer Study, The International Endogene Consortium (IEC), Morris, A. P., Fasching, P. A., Hein, A., Burghaus, S., Beckmann, M. W., Lambrechts, D., Van Nieuwenhuysen, E., Vergote, I., Vanderstichele, A., Doherty, J. A., Rossing, M. A., Wicklund, K. G., Chang-Claude, J., Eilber, U., Rudolph, A., Wang-Gohrke, S., Goodman, M. T., Bogdanova, N., Dork, T., Durst, M., Hillemanns, P., Runnebaum, I. B., Antonenkova, N., Butzow, R., Leminen, A., Nevanlinna, H., Pelttari, L. M., Edwards, R. P., Kelley, J. L., Modugno, F., Moysich, K. B., Ness, R. B., Cannioto, R., Hogdall, E., Jensen, A., Giles, G. G., Bruinsma, F., Kjaer, S. K., Hildebrandt, M. A. T., Liang, D., Lu, K. H., Wu, X., Bisogna, M., Dao, F., Levine, D. A., Cramer, D. W., Terry, K. L., Tworoger, S. S., Missmer, S., Bjorge, L., Salvesen, H. B., Kopperud, R. K., Bischof, K., Aben, K. K. H., Kiemeney, L. A., Massuger, L. F. A. G., Brooks-Wilson, A., Olson, S. H., McGuire, V., Rothstein, J. H., Sieh, W., Whittemore, A. S., Cook, L. S., Le, N. D., Gilks, C. B., Gronwald, J., Jakubowska, A., Lubinski, J., Gawełko, J., Song, H., Tyrer, J. P., Wentzensen, N., Brinton, L., Trabert, B., Lissowska, J., Mclaughlin, J. R., Narod, S. A., Phelan, C., Anton-Culver, H., Ziogas, A., Eccles, D., Gayther, S. A., Gentry-Maharaj, A., Menon, U., Ramus, S. J., Wu, A. H., Dansonka-Mieszkowska, A., Kupryjanczyk, J., Timorek, A., Szafron, L., Cunningham, J. M., Fridley, B. L., Winham, S. J., Bandera, E. V., Poole, E. M., Morgan, T. K., Risch, H. A., Goode, E. L., Schildkraut, J. M., Webb, P. M., Pearce, C. L., Berchuck, A., Pharoah, P. D. P., Montgomery, G. W., Zondervan, K. T., Chenevix-Trench, G., Mac; Gregor, S., The International Endogene Consortium (IEC), Anderson, Gordon, Guo, Henders, Lambert, Lee, Kraft, Kennedy, Macgregor, Martin, Missmer, Montgomery, Morris, Nyholt, Painter, Roseman, Treloar, Visscher, Wallace, Zondervan

Oxford University Press

In: Human Molecular Genetics

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Publikationsdatum: 2015-09-25

Beschreibung: Epidemiological studies have demonstrated associations between endometriosis and certain histotypes of ovarian cancer, including clear cell, low-grade serous and endometrioid carcinomas. We aimed to determine whether the observed associations might be due to shared genetic aetiology. To address this, we used two endometriosis datasets genotyped on common arrays with full-genome coverage (3194 cases and 7060 controls) and a large ovarian cancer dataset genotyped on the customized Illumina Infinium iSelect (iCOGS) arrays (10 065 cases and 21 663 controls). Previous work has suggested that a large number of genetic variants contribute to endometriosis and ovarian cancer (all histotypes combined) susceptibility. Here, using the iCOGS data, we confirmed polygenic architecture for most histotypes of ovarian cancer. This led us to evaluate if the polygenic effects are shared across diseases. We found evidence for shared genetic risks between endometriosis and all histotypes of ovarian cancer, except for the intestinal mucinous type. Clear cell carcinoma showed the strongest genetic correlation with endometriosis (0.51, 95% CI = 0.18–0.84). Endometrioid and low-grade serous carcinomas had similar correlation coefficients (0.48, 95% CI = 0.07–0.89 and 0.40, 95% CI = 0.05–0.75, respectively). High-grade serous carcinoma, which often arises from the fallopian tubes, showed a weaker genetic correlation with endometriosis (0.25, 95% CI = 0.11–0.39), despite the absence of a known epidemiological association. These results suggest that the epidemiological association between endometriosis and ovarian adenocarcinoma may be attributable to shared genetic susceptibility loci.

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Thema: Biologie , Medizin

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A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11 (2012)

Siddiq, A., Couch, F. J., Chen, G. K., Lindstrom, S., Eccles, D., Millikan, R. C., Michailidou, K., Stram, D. O., Beckmann, L., Rhie, S. K., Ambrosone, C. B., Aittomaki, K., Amiano, P., Apicella, C., Australian Breast Cancer Tissue Bank Investigators, Baglietto, L., Bandera, E. V., Beckmann, M. W., Berg, C. D., Bernstein, L., Blomqvist, C., Brauch, H., Brinton, L., Bui, Q. M., Buring, J. E., Buys, S. S., Campa, D., Carpenter, J. E., Chasman, D. I., Chang-Claude, J., Chen, C., Clavel-Chapelon, F., Cox, A., Cross, S. S., Czene, K., Deming, S. L., Diasio, R. B., Diver, W. R., Dunning, A. M., Durcan, L., Ekici, A. B., Fasching, P. A., Familial Breast Cancer Study, Feigelson, H. S., Fejerman, L., Figueroa, J. D., Fletcher, O., Flesch-Janys, D., Gaudet, M. M., The GENICA Consortium, Gerty, S. M., Rodriguez-Gil, J. L., Giles, G. G., van Gils, C. H., Godwin, A. K., Graham, N., Greco, D., Hall, P., Hankinson, S. E., Hartmann, A., Hein, R., Heinz, J., Hoover, R. N., Hopper, J. L., Hu, J. J., Huntsman, S., Ingles, S. A., Irwanto, A., Isaacs, C., Jacobs, K. B., John, E. M., Justenhoven, C., Kaaks, R., Kolonel, L. N., Coetzee, G. A., Lathrop, M., Le Marchand, L., Lee, A. M., Lee, I.-M., Lesnick, T., Lichtner, P., Liu, J., Lund, E., Makalic, E., Martin, N. G., McLean, C. A., Meijers-Heijboer, H., Meindl, A., Miron, P., Monroe, K. R., Montgomery, G. W., Muller-Myhsok, B., Nickels, S., Nyante, S. J., Olswold, C., Overvad, K., Palli, D., Park, D. J., Palmer, J. R., Pathak, H., Peto, J., Pharoah, P., Rahman, N., Rivadeneira, F., Schmidt, D. F., Schmutzler, R. K., Slager, S., Southey, M. C., Stevens, K. N., Sinn, H.-P., Press, M. F., Ross, E., Riboli, E., Ridker, P. M., Schumacher, F. R., Severi, G., dos Santos Silva, I., Stone, J., Sund, M., Tapper, W. J., Thun, M. J., Travis, R. C., Turnbull, C., Uitterlinden, A. G., Waisfisz, Q., Wang, X., Wang, Z., Weaver, J., Schulz-Wendtland, R., Wilkens, L. R., Van Den Berg, D., Zheng, W., Ziegler, R. G., Ziv, E., Nevanlinna, H., Easton, D. F., Hunter, D. J., Henderson, B. E., Chanock, S. J., Garcia-Closas, M., Kraft, P., Haiman, C. A., Vachon, C. M.

Oxford University Press

In: Human Molecular Genetics

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Publikationsdatum: 2012-12-01

Beschreibung: Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative subtypes. To identify additional genetic variants for ER-negative breast cancer, we conducted the largest meta-analysis of ER-negative disease to date, comprising 4754 ER-negative cases and 31 663 controls from three GWAS: NCI Breast and Prostate Cancer Cohort Consortium (BPC3) (2188 ER-negative cases; 25 519 controls of European ancestry), Triple Negative Breast Cancer Consortium (TNBCC) (1562 triple negative cases; 3399 controls of European ancestry) and African American Breast Cancer Consortium (AABC) (1004 ER-negative cases; 2745 controls). We performed in silico replication of 86 SNPs at P ≤ 1 x 10 -5 in an additional 11 209 breast cancer cases (946 with ER-negative disease) and 16 057 controls of Japanese, Latino and European ancestry. We identified two novel loci for breast cancer at 20q11 and 6q14. SNP rs2284378 at 20q11 was associated with ER-negative breast cancer (combined two-stage OR = 1.16; P = 1.1 x 10 –8 ) but showed a weaker association with overall breast cancer (OR = 1.08, P = 1.3 x 10 –6 ) based on 17 869 cases and 43 745 controls and no association with ER-positive disease (OR = 1.01, P = 0.67) based on 9965 cases and 22 902 controls. Similarly, rs17530068 at 6q14 was associated with breast cancer (OR = 1.12; P = 1.1 x 10 –9 ), and with both ER-positive (OR = 1.09; P = 1.5 x 10 –5 ) and ER-negative (OR = 1.16, P = 2.5 x 10 –7 ) disease. We also confirmed three known loci associated with ER-negative (19p13) and both ER-negative and ER-positive breast cancer (6q25 and 12p11). Our results highlight the value of large-scale collaborative studies to identify novel breast cancer risk loci.

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Thema: Biologie , Medizin

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A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease (2012)

Amin Al Olama, A., Kote-Jarai, Z., Schumacher, F. R., Wiklund, F., Berndt, S. I., Benlloch, S., Giles, G. G., Severi, G., Neal, D. E., Hamdy, F. C., Donovan, J. L., Hunter, D. J., Henderson, B. E., Thun, M. J., Gaziano, M., Giovannucci, E. L., Siddiq, A., Travis, R. C., Cox, D. G., Canzian, F., Riboli, E., Key, T. J., Andriole, G., Albanes, D., Hayes, R. B., Schleutker, J., Auvinen, A., Tammela, T. L. J., Weischer, M., Stanford, J. L., Ostrander, E. A., Cybulski, C., Lubinski, J., Thibodeau, S. N., Schaid, D. J., Sorensen, K. D., Batra, J., Clements, J. A., Chambers, S., Aitken, J., Gardiner, R. A., Maier, C., Vogel, W., Dork, T., Brenner, H., Habuchi, T., Ingles, S., John, E. M., Dickinson, J. L., Cannon-Albright, L., Teixeira, M. R., Kaneva, R., Zhang, H.-W., Lu, Y.-J., Park, J. Y., Cooney, K. A., Muir, K. R., Leongamornlert, D. A., Saunders, E., Tymrakiewicz, M., Mahmud, N., Guy, M., Govindasami, K., O'Brien, L. T., Wilkinson, R. A., Hall, A. L., Sawyer, E. J., Dadaev, T., Morrison, J., Dearnaley, D. P., Horwich, A., Huddart, R. A., Khoo, V. S., Parker, C. C., Van As, N., Woodhouse, C. J., Thompson, A., Dudderidge, T., Ogden, C., Cooper, C. S., Lophatonanon, A., Southey, M. C., Hopper, J. L., English, D., Virtamo, J., Le Marchand, L., Campa, D., Kaaks, R., Lindstrom, S., Diver, W. R., Gapstur, S., Yeager, M., Cox, A., Stern, M. C., Corral, R., Aly, M., Isaacs, W., Adolfsson, J., Xu, J., Zheng, S. L., Wahlfors, T., Taari, K., Kujala, P., Klarskov, P., Nordestgaard, B. G., Roder, M. A., Frikke-Schmidt, R., Bojesen, S. E., Fitz; Gerald, L. M., Kolb, S., Kwon, E. M., Karyadi, D. M., Orntoft, T. F., Borre, M., Rinckleb, A., Luedeke, M., Herkommer, K., Meyer, A., Serth, J., Marthick, J. R., Patterson, B., Wokolorczyk, D., Spurdle, A., Lose, F., McDonnell, S. K., Joshi, A. D., Shahabi, A., Pinto, P., Santos, J., Ray, A., Sellers, T. A., Lin, H.-Y., Stephenson, R. A., Teerlink, C., Muller, H., Rothenbacher, D., Tsuchiya, N., Narita, S., Cao, G.-W., Slavov, C., Mitev, V., The UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, The UK Protec; T Study Collaborators, The Australian Prostate Cancer Bioresource, The PRACTICAL Consortium, Chanock, S., Gronberg, H., Haiman, C. A., Kraft, P., Easton, D. F., Eeles, R. A.

Oxford University Press

In: Human Molecular Genetics

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Publikationsdatum: 2012-12-20

Beschreibung: Genome-wide association studies (GWAS) have identified multiple common genetic variants associated with an increased risk of prostate cancer (PrCa), but these explain less than one-third of the heritability. To identify further susceptibility alleles, we conducted a meta-analysis of four GWAS including 5953 cases of aggressive PrCa and 11 463 controls (men without PrCa). We computed association tests for approximately 2.6 million SNPs and followed up the most significant SNPs by genotyping 49 121 samples in 29 studies through the international PRACTICAL and BPC3 consortia. We not only confirmed the association of a PrCa susceptibility locus, rs11672691 on chromosome 19, but also showed an association with aggressive PrCa [odds ratio = 1.12 (95% confidence interval 1.03–1.21), P = 1.4 x 10 –8 ]. This report describes a genetic variant which is associated with aggressive PrCa, which is a type of PrCa associated with a poorer prognosis.

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Thema: Biologie , Medizin

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A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration (2016)

de Vries, P. S., Chasman, D. I., Sabater-Lleal, M., Chen, M.-H., Huffman, J. E., Steri, M., Tang, W., Teumer, A., Marioni, R. E., Grossmann, V., Hottenga, J. J., Trompet, S., Müller-Nurasyid, M., Zhao, J. H., Brody, J. A., Kleber, M. E., Guo, X., Wang, J. J., Auer, P. L., Attia, J. R., Yanek, L. R., Ahluwalia, T. S., Lahti, J., Venturini, C., Tanaka, T., Bielak, L. F., Joshi, P. K., Rocanin-Arjo, A., Kolcic, I., Navarro, P., Rose, L. M., Oldmeadow, C., Riess, H., Mazur, J., Basu, S., Goel, A., Yang, Q., Ghanbari, M., Willemsen, G., Rumley, A., Fiorillo, E., de Craen, A. J. M., Grotevendt, A., Scott, R., Taylor, K. D., Delgado, G. E., Yao, J., Kifley, A., Kooperberg, C., Qayyum, R., Lopez, L. M., Berentzen, T. L., Räikkönen, K., Mangino, M., Bandinelli, S., Peyser, P. A., Wild, S., Tregouët, D.-A., Wright, A. F., Marten, J., Zemunik, T., Morrison, A. C., Sennblad, B., Tofler, G., de Maat, M. P. M., de Geus, E. J. C., Lowe, G. D., Zoledziewska, M., Sattar, N., Binder, H., Völker, U., Waldenberger, M., Khaw, K.-T., Mcknight, B., Huang, J., Jenny, N. S., Holliday, E. G., Qi, L., Mcevoy, M. G., Becker, D. M., Starr, J. M., Sarin, A.-P., Hysi, P. G., Hernandez, D. G., Jhun, M. A., Campbell, H., Hamsten, A., Rivadeneira, F., Mcardle, W. L., Slagboom, P. E., Zeller, T., Koenig, W., Psaty, B. M., Haritunians, T., Liu, J., Palotie, A., Uitterlinden, A. G., Stott, D. J., Hofman, A., Franco, O. H., Polasek, O., Rudan, I., Morange, P.-E., Wilson, J. F., Kardia, S. L. R., Ferrucci, L., Spector, T. D., Eriksson, J. G., Hansen, T., Deary, I. J., Becker, L. C., Scott, R. J., Mitchell, P., März, W., Wareham, N. J., Peters, A., Greinacher, A., Wild, P. S., Jukema, J. W., Boomsma, D. I., Hayward, C., Cucca, F., Tracy, R., Watkins, H., Reiner, A. P., Folsom, A. R., Ridker, P. M., O'Donnell, C. J., Smith, N. L., Strachan, D. P., Dehghan, A.

Oxford University Press

In: Human Molecular Genetics

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Publikationsdatum: 2016-01-09

Beschreibung: Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including ~120 000 participants of European ancestry (95 806 participants with data on the X-chromosome). Approximately 10.7 million single-nucleotide polymorphisms and 1.2 million indels were examined. We identified 41 genome-wide significant fibrinogen loci; of which, 18 were newly identified. There were no genome-wide significant signals on the X-chromosome. The lead variants of five significant loci were indels. We further identified six additional independent signals, including three rare variants, at two previously characterized loci: FGB and IRF1 . Together the 41 loci explain 3% of the variance in plasma fibrinogen concentration.

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Thema: Biologie , Medizin

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A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease (2012)

Amin Al Olama, A. ; Kote-Jarai, Z. ; Schumacher, F. R. ; [weitere]

Oxford University Press

In: Human Molecular Genetics. 2012; 22(2): 408-415. Published 2012 Oct 12. doi: 10.1093/hmg/dds425.

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Publikationsdatum: 2012-10-12

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Thema: Biologie , Medizin

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FANCM c.5791C〉T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor (2015)

Peterlongo, P., Catucci, I., Colombo, M., Caleca, L., Mucaki, E., Bogliolo, M., Marin, M., Damiola, F., Bernard, L., Pensotti, V., Volorio, S., Dall'Olio, V., Meindl, A., Bartram, C., Sutter, C., Surowy, H., Sornin, V., Dondon, M.-G., Eon-Marchais, S., Stoppa-Lyonnet, D., Andrieu, N., Sinilnikova, O. M., GENESIS, Mitchell, G., James, P. A., Thompson, E., k; Con; Fab, SWE-BRCA, Marchetti, M., Verzeroli, C., Tartari, C., Capone, G. L., Putignano, A. L., Genuardi, M., Medici, V., Marchi, I., Federico, M., Tognazzo, S., Matricardi, L., Agata, S., Dolcetti, R., Puppa, L. D., Cini, G., Gismondi, V., Viassolo, V., Perfumo, C., Mencarelli, M. A., Baldassarri, M., Peissel, B., Roversi, G., Silvestri, V., Rizzolo, P., Spina, F., Vivanet, C., Tibiletti, M. G., Caligo, M. A., Gambino, G., Tommasi, S., Pilato, B., Tondini, C., Corna, C., Bonanni, B., Barile, M., Osorio, A., Benitez, J., Balestrino, L., Ottini, L., Manoukian, S., Pierotti, M. A., Renieri, A., Varesco, L., Couch, F. J., Wang, X., Devilee, P., Hilbers, F. S., van Asperen, C. J., Viel, A., Montagna, M., Cortesi, L., Diez, O., Balmana, J., Hauke, J., Schmutzler, R. K., Papi, L., Pujana, M. A., Lazaro, C., Falanga, A., Offit, K., Vijai, J., Campbell, I., Burwinkel, B., Kvist, A., Ehrencrona, H., Mazoyer, S., Pizzamiglio, S., Verderio, P., Surralles, J., Rogan, P. K., Radice, P.

Oxford University Press

In: Human Molecular Genetics

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Publikationsdatum: 2015-08-27

Beschreibung: Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C〉T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C〉T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28–12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04–12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09–13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.

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Thema: Biologie , Medizin

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