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4 results on '"Laurie, Cecilia"'

1. Clonal hematopoiesis associated with epigenetic aging and clinical outcomes.

Author

Nachun, Daniel, Nachun, Daniel, Lu, Ake T, Bick, Alexander G, Natarajan, Pradeep, Weinstock, Joshua, Szeto, Mindy D, Kathiresan, Sekar, Abecasis, Goncalo, Taylor, Kent D, Guo, Xiuqing, Tracy, Russ, Durda, Peter, Liu, Yongmei, Johnson, Craig, Rich, Stephen S, Van Den Berg, David, Laurie, Cecilia, Blackwell, Tom, Papanicolaou, George J, Correa, Adolfo, Raffield, Laura M, Johnson, Andrew D, Murabito, Joanne, Manson, JoAnn E, Desai, Pinkal, Kooperberg, Charles, Assimes, Themistocles L, Levy, Daniel, Rotter, Jerome I, Reiner, Alex P, Whitsel, Eric A, Wilson, James G, Horvath, Steve, Jaiswal, Siddhartha, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Nachun, Daniel, Nachun, Daniel, Lu, Ake T, Bick, Alexander G, Natarajan, Pradeep, Weinstock, Joshua, Szeto, Mindy D, Kathiresan, Sekar, Abecasis, Goncalo, Taylor, Kent D, Guo, Xiuqing, Tracy, Russ, Durda, Peter, Liu, Yongmei, Johnson, Craig, Rich, Stephen S, Van Den Berg, David, Laurie, Cecilia, Blackwell, Tom, Papanicolaou, George J, Correa, Adolfo, Raffield, Laura M, Johnson, Andrew D, Murabito, Joanne, Manson, JoAnn E, Desai, Pinkal, Kooperberg, Charles, Assimes, Themistocles L, Levy, Daniel, Rotter, Jerome I, Reiner, Alex P, Whitsel, Eric A, Wilson, James G, Horvath, Steve, Jaiswal, Siddhartha, and NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium

Abstract

Clonal hematopoiesis of indeterminate potential (CHIP) is a common precursor state for blood cancers that most frequently occurs due to mutations in the DNA-methylation modifying enzymes DNMT3A or TET2. We used DNA-methylation array and whole-genome sequencing data from four cohorts together comprising 5522 persons to study the association between CHIP, epigenetic clocks, and health outcomes. CHIP was strongly associated with epigenetic age acceleration, defined as the residual after regressing epigenetic clock age on chronological age, in several clocks, ranging from 1.31 years (GrimAge, p < 8.6 × 10-7 ) to 3.08 years (EEAA, p < 3.7 × 10-18 ). Mutations in most CHIP genes except DNA-damage response genes were associated with increases in several measures of age acceleration. CHIP carriers with mutations in multiple genes had the largest increases in age acceleration and decrease in estimated telomere length. Finally, we found that ~40% of CHIP carriers had acceleration >0 in both Hannum and GrimAge (referred to as AgeAccelHG+). This group was at high risk of all-cause mortality (hazard ratio 2.90, p < 4.1 × 10-8 ) and coronary heart disease (CHD) (hazard ratio 3.24, p < 9.3 × 10-6 ) compared to those who were CHIP-/AgeAccelHG-. In contrast, the other ~60% of CHIP carriers who were AgeAccelHG- were not at increased risk of these outcomes. In summary, CHIP is strongly linked to age acceleration in multiple clocks, and the combination of CHIP and epigenetic aging may be used to identify a population at high risk for adverse outcomes and who may be a target for clinical interventions.

Published
2021

2. Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

Author

Hodonsky, Chani J, Hodonsky, Chani J, Jain, Deepti, Schick, Ursula M, Morrison, Jean V, Brown, Lisa, McHugh, Caitlin P, Schurmann, Claudia, Chen, Diane D, Liu, Yong Mei, Auer, Paul L, Laurie, Cecilia A, Taylor, Kent D, Browning, Brian L, Li, Yun, Papanicolaou, George, Rotter, Jerome I, Kurita, Ryo, Nakamura, Yukio, Browning, Sharon R, Loos, Ruth JF, North, Kari E, Laurie, Cathy C, Thornton, Timothy A, Pankratz, Nathan, Bauer, Daniel E, Sofer, Tamar, Reiner, Alex P, Hodonsky, Chani J, Hodonsky, Chani J, Jain, Deepti, Schick, Ursula M, Morrison, Jean V, Brown, Lisa, McHugh, Caitlin P, Schurmann, Claudia, Chen, Diane D, Liu, Yong Mei, Auer, Paul L, Laurie, Cecilia A, Taylor, Kent D, Browning, Brian L, Li, Yun, Papanicolaou, George, Rotter, Jerome I, Kurita, Ryo, Nakamura, Yukio, Browning, Sharon R, Loos, Ruth JF, North, Kari E, Laurie, Cathy C, Thornton, Timothy A, Pankratz, Nathan, Bauer, Daniel E, Sofer, Tamar, and Reiner, Alex P

Abstract

Prior GWAS have identified loci associated with red blood cell (RBC) traits in populations of European, African, and Asian ancestry. These studies have not included individuals with an Amerindian ancestral background, such as Hispanics/Latinos, nor evaluated the full spectrum of genomic variation beyond single nucleotide variants. Using a custom genotyping array enriched for Amerindian ancestral content and 1000 Genomes imputation, we performed GWAS in 12,502 participants of Hispanic Community Health Study and Study of Latinos (HCHS/SOL) for hematocrit, hemoglobin, RBC count, RBC distribution width (RDW), and RBC indices. Approximately 60% of previously reported RBC trait loci generalized to HCHS/SOL Hispanics/Latinos, including African ancestral alpha- and beta-globin gene variants. In addition to the known 3.8kb alpha-globin copy number variant, we identified an Amerindian ancestral association in an alpha-globin regulatory region on chromosome 16p13.3 for mean corpuscular volume and mean corpuscular hemoglobin. We also discovered and replicated three genome-wide significant variants in previously unreported loci for RDW (SLC12A2 rs17764730, PSMB5 rs941718), and hematocrit (PROX1 rs3754140). Among the proxy variants at the SLC12A2 locus we identified rs3812049, located in a bi-directional promoter between SLC12A2 (which encodes a red cell membrane ion-transport protein) and an upstream anti-sense long-noncoding RNA, LINC01184, as the likely causal variant. We further demonstrate that disruption of the regulatory element harboring rs3812049 affects transcription of SLC12A2 and LINC01184 in human erythroid progenitor cells. Together, these results reinforce the importance of genetic study of diverse ancestral populations, in particular Hispanics/Latinos.

Published
2017

3. Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.

Author

Hodonsky, Chani J, Williams, Scott M1, Hodonsky, Chani J, Jain, Deepti, Schick, Ursula M, Morrison, Jean V, Brown, Lisa, McHugh, Caitlin P, Schurmann, Claudia, Chen, Diane D, Liu, Yong Mei, Auer, Paul L, Laurie, Cecilia A, Taylor, Kent D, Browning, Brian L, Li, Yun, Papanicolaou, George, Rotter, Jerome I, Kurita, Ryo, Nakamura, Yukio, Browning, Sharon R, Loos, Ruth JF, North, Kari E, Laurie, Cathy C, Thornton, Timothy A, Pankratz, Nathan, Bauer, Daniel E, Sofer, Tamar, Reiner, Alex P, Hodonsky, Chani J, Williams, Scott M1, Hodonsky, Chani J, Jain, Deepti, Schick, Ursula M, Morrison, Jean V, Brown, Lisa, McHugh, Caitlin P, Schurmann, Claudia, Chen, Diane D, Liu, Yong Mei, Auer, Paul L, Laurie, Cecilia A, Taylor, Kent D, Browning, Brian L, Li, Yun, Papanicolaou, George, Rotter, Jerome I, Kurita, Ryo, Nakamura, Yukio, Browning, Sharon R, Loos, Ruth JF, North, Kari E, Laurie, Cathy C, Thornton, Timothy A, Pankratz, Nathan, Bauer, Daniel E, Sofer, Tamar, and Reiner, Alex P

Abstract

Prior GWAS have identified loci associated with red blood cell (RBC) traits in populations of European, African, and Asian ancestry. These studies have not included individuals with an Amerindian ancestral background, such as Hispanics/Latinos, nor evaluated the full spectrum of genomic variation beyond single nucleotide variants. Using a custom genotyping array enriched for Amerindian ancestral content and 1000 Genomes imputation, we performed GWAS in 12,502 participants of Hispanic Community Health Study and Study of Latinos (HCHS/SOL) for hematocrit, hemoglobin, RBC count, RBC distribution width (RDW), and RBC indices. Approximately 60% of previously reported RBC trait loci generalized to HCHS/SOL Hispanics/Latinos, including African ancestral alpha- and beta-globin gene variants. In addition to the known 3.8kb alpha-globin copy number variant, we identified an Amerindian ancestral association in an alpha-globin regulatory region on chromosome 16p13.3 for mean corpuscular volume and mean corpuscular hemoglobin. We also discovered and replicated three genome-wide significant variants in previously unreported loci for RDW (SLC12A2 rs17764730, PSMB5 rs941718), and hematocrit (PROX1 rs3754140). Among the proxy variants at the SLC12A2 locus we identified rs3812049, located in a bi-directional promoter between SLC12A2 (which encodes a red cell membrane ion-transport protein) and an upstream anti-sense long-noncoding RNA, LINC01184, as the likely causal variant. We further demonstrate that disruption of the regulatory element harboring rs3812049 affects transcription of SLC12A2 and LINC01184 in human erythroid progenitor cells. Together, these results reinforce the importance of genetic study of diverse ancestral populations, in particular Hispanics/Latinos.

Published
2017

4. Characterization of Large Structural Genetic Mosaicism in Human Autosomes

Author

Machiela, Mitchell J., Zhou, Weiyin, Sampson, Joshua N., Dean, Michael C., Jacobs, Kevin B., Black, Amanda, Brinton, Louise A., Chang, I-Shou, Chen, Chu, Chen, Constance, Chen, Kexin, Cook, Linda S., Bou, Marta Crous, De Vivo, Immaculata, Doherty, Jennifer, Friedenreich, Christine M., Gaudet, Mia M., Haiman, Christopher A., Hankinson, Susan E., Hartge, Patricia, Henderson, Brian E., Hong, Yun-Chul, Hosgood, H. Dean, III, Hsiung, Chao A., Hu, Wei, Hunter, David J., Jessop, Lea, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Robert, Kraft, Peter, Lan, Qing, Lin, Dongxin, Liu, Jianjun, Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M., Matsuo, Keitaro, Olson, Sara H., Orlow, Irene, Park, Jae Yong, Pooler, Loreall, Prescott, Jennifer, Rastogi, Radhai, Risch, Harvey A., Schumacher, Fredrick, Seow, Adeline, Setiawan, Veronica Wendy, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, VanDen Berg, David, Wang, Jiu-Cun, Wentzensen, Nicolas, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Yi-Long, Xia, Lucy, Yang, Hannah P., Yang, Pan-Chyr, Zheng, Wei, Zhou, Baosen, Abnet, Christian C., Albanes, Demetrius, Aldrich, Melinda C., Amos, Christopher, Amundadottir, Laufey T., Berndt, Sonja I., Blot, William J., Bock, Cathryn H., Bracci, Paige M., Burdett, Laurie, Buring, Julie E., Butler, Mary A., Carreon, Tania, Chatterjee, Nilanjan, Chung, Charles C., Cook, Michael B., Cullen, Michael, Davis, Faith G., Ding, Ti, Duell, Eric J., Epstein, Caroline G., Fan, Jin-Hu, Figueroa, Jonine D., Fraumeni, Joseph F., Jr., Freedman, Neal D., Fuchs, Charles S., Gao, Yu-Tang, Gapstur, Susan M., Patino-Garcia, Ana, Garcia-Closas, Montserrat, Gaziano, J. Michael, Giles, Graham G., Gillanders, Elizabeth M., Giovannucci, Edward L., Goldin, Lynn, Goldstein, Alisa M., Greene, Mark H., Hallmans, Göran, Harris, Curtis C., Henriksson, Roger, Holly, Elizabeth A., Hoover, Robert N., Hu, Nan, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Koh, Woon-Puay, Kolonel, Laurence N., Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C., LaCroix, Andrea, Landgren, Annelie, Landi, Maria Teresa, Li, Donghui, Liao, Linda M., Malats, Nuria, McGlynn, Katherine A., McNeill, Lorna H., McWilliams, Robert R., Melin, Beatrice S., Mirabello, Lisa, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M., Prokunina-Olsson, Ludmila, Purdue, Mark, Qiao, You-Lin, Rabe, Kari G., Rajaraman, Preetha, Real, Francisco X., Riboli, Elio, Rodriguez-Santiago, Benjamin, Rothman, Nathaniel, Ruder, Avima M., Savage, Sharon A., Schwartz, Ann G., Schwartz, Kendra L., Sesso, Howard D., Severi, Gianluca, Silverman, Debra T., Spitz, Margaret R., Stevens, Victoria L., Stolzenberg-Solomon, Rachael, Stram, Daniel, Tang, Ze-Zhong, Taylor, Philip R., Teras, Lauren R., Tobias, Geoffrey S., Viswanathan, Kala, Wacholder, Sholom, Wang, Zhaoming, Weinstein, Stephanie J., Wheeler, William, White, Emily, Wiencke, John K., Wolpin, Brian M., Wu, Xifeng, Wunder, Jay S., Yu, Kai, Zanetti, Krista A., Zeleniuch-Jacquotte, Anne, Ziegler, Regina G., De Andrade, Mariza, Barnes, Kathleen C., Beaty, Terri H., Bierut, Laura J., Desch, Karl C., Doheny, Kimberly F., Feenstra, Bjarke, Ginsburg, David, Heit, John A., Kang, Jae H., Laurie, Cecilia A., Li, Jun Z., Lowe, William L., Marazita, Mary L., Melbye, Mads, Mirel, Daniel B., Murray, Jeffrey C., Nelson, Sarah C., Pasquale, Louis R., Rice, Kenneth, Wiggs, Janey L., Wise, Anastasia, Tucker, Margaret, Perez-Jurado, Luis A., Laurie, Cathy C., Caporaso, Neil E., Yeager, Meredith, Chanock, Stephen J., Machiela, Mitchell J., Zhou, Weiyin, Sampson, Joshua N., Dean, Michael C., Jacobs, Kevin B., Black, Amanda, Brinton, Louise A., Chang, I-Shou, Chen, Chu, Chen, Constance, Chen, Kexin, Cook, Linda S., Bou, Marta Crous, De Vivo, Immaculata, Doherty, Jennifer, Friedenreich, Christine M., Gaudet, Mia M., Haiman, Christopher A., Hankinson, Susan E., Hartge, Patricia, Henderson, Brian E., Hong, Yun-Chul, Hosgood, H. Dean, III, Hsiung, Chao A., Hu, Wei, Hunter, David J., Jessop, Lea, Kim, Hee Nam, Kim, Yeul Hong, Kim, Young Tae, Klein, Robert, Kraft, Peter, Lan, Qing, Lin, Dongxin, Liu, Jianjun, Le Marchand, Loic, Liang, Xiaolin, Lissowska, Jolanta, Lu, Lingeng, Magliocco, Anthony M., Matsuo, Keitaro, Olson, Sara H., Orlow, Irene, Park, Jae Yong, Pooler, Loreall, Prescott, Jennifer, Rastogi, Radhai, Risch, Harvey A., Schumacher, Fredrick, Seow, Adeline, Setiawan, Veronica Wendy, Shen, Hongbing, Sheng, Xin, Shin, Min-Ho, Shu, Xiao-Ou, VanDen Berg, David, Wang, Jiu-Cun, Wentzensen, Nicolas, Wong, Maria Pik, Wu, Chen, Wu, Tangchun, Wu, Yi-Long, Xia, Lucy, Yang, Hannah P., Yang, Pan-Chyr, Zheng, Wei, Zhou, Baosen, Abnet, Christian C., Albanes, Demetrius, Aldrich, Melinda C., Amos, Christopher, Amundadottir, Laufey T., Berndt, Sonja I., Blot, William J., Bock, Cathryn H., Bracci, Paige M., Burdett, Laurie, Buring, Julie E., Butler, Mary A., Carreon, Tania, Chatterjee, Nilanjan, Chung, Charles C., Cook, Michael B., Cullen, Michael, Davis, Faith G., Ding, Ti, Duell, Eric J., Epstein, Caroline G., Fan, Jin-Hu, Figueroa, Jonine D., Fraumeni, Joseph F., Jr., Freedman, Neal D., Fuchs, Charles S., Gao, Yu-Tang, Gapstur, Susan M., Patino-Garcia, Ana, Garcia-Closas, Montserrat, Gaziano, J. Michael, Giles, Graham G., Gillanders, Elizabeth M., Giovannucci, Edward L., Goldin, Lynn, Goldstein, Alisa M., Greene, Mark H., Hallmans, Göran, Harris, Curtis C., Henriksson, Roger, Holly, Elizabeth A., Hoover, Robert N., Hu, Nan, Hutchinson, Amy, Jenab, Mazda, Johansen, Christoffer, Khaw, Kay-Tee, Koh, Woon-Puay, Kolonel, Laurence N., Kooperberg, Charles, Krogh, Vittorio, Kurtz, Robert C., LaCroix, Andrea, Landgren, Annelie, Landi, Maria Teresa, Li, Donghui, Liao, Linda M., Malats, Nuria, McGlynn, Katherine A., McNeill, Lorna H., McWilliams, Robert R., Melin, Beatrice S., Mirabello, Lisa, Peplonska, Beata, Peters, Ulrike, Petersen, Gloria M., Prokunina-Olsson, Ludmila, Purdue, Mark, Qiao, You-Lin, Rabe, Kari G., Rajaraman, Preetha, Real, Francisco X., Riboli, Elio, Rodriguez-Santiago, Benjamin, Rothman, Nathaniel, Ruder, Avima M., Savage, Sharon A., Schwartz, Ann G., Schwartz, Kendra L., Sesso, Howard D., Severi, Gianluca, Silverman, Debra T., Spitz, Margaret R., Stevens, Victoria L., Stolzenberg-Solomon, Rachael, Stram, Daniel, Tang, Ze-Zhong, Taylor, Philip R., Teras, Lauren R., Tobias, Geoffrey S., Viswanathan, Kala, Wacholder, Sholom, Wang, Zhaoming, Weinstein, Stephanie J., Wheeler, William, White, Emily, Wiencke, John K., Wolpin, Brian M., Wu, Xifeng, Wunder, Jay S., Yu, Kai, Zanetti, Krista A., Zeleniuch-Jacquotte, Anne, Ziegler, Regina G., De Andrade, Mariza, Barnes, Kathleen C., Beaty, Terri H., Bierut, Laura J., Desch, Karl C., Doheny, Kimberly F., Feenstra, Bjarke, Ginsburg, David, Heit, John A., Kang, Jae H., Laurie, Cecilia A., Li, Jun Z., Lowe, William L., Marazita, Mary L., Melbye, Mads, Mirel, Daniel B., Murray, Jeffrey C., Nelson, Sarah C., Pasquale, Louis R., Rice, Kenneth, Wiggs, Janey L., Wise, Anastasia, Tucker, Margaret, Perez-Jurado, Luis A., Laurie, Cathy C., Caporaso, Neil E., Yeager, Meredith, and Chanock, Stephen J.

Abstract

Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 x 3 10(-31)) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.

Published
2015
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