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10 results on '"Van den Berg, David J."'

1. Epigenome-wide association study of mitochondrial genome copy number.

Author

Wang, Penglong, Castellani, Christina A, Yao, Jie, Huan, Tianxiao, Bielak, Lawrence F, Zhao, Wei, Haessler, Jeffrey, Joehanes, Roby, Sun, Xianbang, Guo, Xiuqing, Longchamps, Ryan J, Manson, JoAnn E, Grove, Megan L, Bressler, Jan, Taylor, Kent D, Lappalainen, Tuuli, Kasela, Silva, Van Den Berg, David J, Hou, Lifang, Reiner, Alexander, Liu, Yongmei, Boerwinkle, Eric, Smith, Jennifer A, Peyser, Patricia A, Fornage, Myriam, Rich, Stephen S, Rotter, Jerome I, Kooperberg, Charles, Arking, Dan E, Levy, Daniel, and Liu, Chunyu

Subjects
Heart Disease, Human Genome, Genetics, Cardiovascular, Generic health relevance, Aged, DNA Copy Number Variations, DNA Methylation, DNA, Mitochondrial, Epigenome, Female, Genome, Mitochondrial, Humans, Male, Middle Aged, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We conducted cohort- and race-specific epigenome-wide association analyses of mitochondrial deoxyribonucleic acid (mtDNA) copy number (mtDNA CN) measured in whole blood from participants of African and European origins in five cohorts (n = 6182, mean age = 57-67 years, 65% women). In the meta-analysis of all the participants, we discovered 21 mtDNA CN-associated DNA methylation sites (CpG) (P

Published
2021

2. A Meta-analysis of Multiple Myeloma Risk Regions in African and European Ancestry Populations Identifies Putatively Functional Loci

Author

Rand, Kristin A, Song, Chi, Dean, Eric, Serie, Daniel J, Curtin, Karen, Sheng, Xin, Hu, Donglei, Huff, Carol Ann, Bernal-Mizrachi, Leon, Tomasson, Michael H, Ailawadhi, Sikander, Singhal, Seema, Pawlish, Karen, Peters, Edward S, Bock, Cathryn H, Stram, Alex, Van Den Berg, David J, Edlund, Christopher K, Conti, David V, Zimmerman, Todd, Hwang, Amie E, Huntsman, Scott, Graff, John, Nooka, Ajay, Kong, Yinfei, Pregja, Silvana L, Berndt, Sonja I, Blot, William J, Carpten, John, Casey, Graham, Chu, Lisa, Diver, W Ryan, Stevens, Victoria L, Lieber, Michael R, Goodman, Phyllis J, Hennis, Anselm JM, Hsing, Ann W, Mehta, Jayesh, Kittles, Rick A, Kolb, Suzanne, Klein, Eric A, Leske, Cristina, Murphy, Adam B, Nemesure, Barbara, Neslund-Dudas, Christine, Strom, Sara S, Vij, Ravi, Rybicki, Benjamin A, Stanford, Janet L, Signorello, Lisa B, Witte, John S, Ambrosone, Christine B, Bhatti, Parveen, John, Esther M, Bernstein, Leslie, Zheng, Wei, Olshan, Andrew F, Hu, Jennifer J, Ziegler, Regina G, Nyante, Sarah J, Bandera, Elisa V, Birmann, Brenda M, Ingles, Sue A, Press, Michael F, Atanackovic, Djordje, Glenn, Martha J, Cannon-Albright, Lisa A, Jones, Brandt, Tricot, Guido, Martin, Thomas G, Kumar, Shaji K, Wolf, Jeffrey L, Deming Halverson, Sandra L, Rothman, Nathaniel, Brooks-Wilson, Angela R, Rajkumar, S Vincent, Kolonel, Laurence N, Chanock, Stephen J, Slager, Susan L, Severson, Richard K, Janakiraman, Nalini, Terebelo, Howard R, Brown, Elizabeth E, De Roos, Anneclaire J, Mohrbacher, Ann F, Colditz, Graham A, Giles, Graham G, Spinelli, John J, Chiu, Brian C, Munshi, Nikhil C, Anderson, Kenneth C, Levy, Joan, Zonder, Jeffrey A, Orlowski, Robert Z, Lonial, Sagar, Camp, Nicola J, Vachon, Celine M, Ziv, Elad, Stram, Daniel O, and Hazelett, Dennis J

Subjects
Biomedical and Clinical Sciences, Cancer, Clinical Research, Genetics, Rare Diseases, Hematology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Adult, Aged, Black People, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Middle Aged, Multiple Myeloma, Polycomb Repressive Complex 1, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Repressor Proteins, Transmembrane Activator and CAML Interactor Protein, White People, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundGenome-wide association studies (GWAS) in European populations have identified genetic risk variants associated with multiple myeloma.MethodsWe performed association testing of common variation in eight regions in 1,318 patients with multiple myeloma and 1,480 controls of European ancestry and 1,305 patients with multiple myeloma and 7,078 controls of African ancestry and conducted a meta-analysis to localize the signals, with epigenetic annotation used to predict functionality.ResultsWe found that variants in 7p15.3, 17p11.2, 22q13.1 were statistically significantly (P < 0.05) associated with multiple myeloma risk in persons of African ancestry and persons of European ancestry, and the variant in 3p22.1 was associated in European ancestry only. In a combined African ancestry-European ancestry meta-analysis, variation in five regions (2p23.3, 3p22.1, 7p15.3, 17p11.2, 22q13.1) was statistically significantly associated with multiple myeloma risk. In 3p22.1, the correlated variants clustered within the gene body of ULK4 Correlated variants in 7p15.3 clustered around an enhancer at the 3' end of the CDCA7L transcription termination site. A missense variant at 17p11.2 (rs34562254, Pro251Leu, OR, 1.32; P = 2.93 × 10-7) in TNFRSF13B encodes a lymphocyte-specific protein in the TNF receptor family that interacts with the NF-κB pathway. SNPs correlated with the index signal in 22q13.1 cluster around the promoter and enhancer regions of CBX7 CONCLUSIONS: We found that reported multiple myeloma susceptibility regions contain risk variants important across populations, supporting the use of multiple racial/ethnic groups with different underlying genetic architecture to enhance the localization and identification of putatively functional alleles.ImpactA subset of reported risk loci for multiple myeloma has consistent effects across populations and is likely to be functional. Cancer Epidemiol Biomarkers Prev; 25(12); 1609-18. ©2016 AACR.

Published
2016

3. Assessment of Multifactor Gene–Environment Interactions and Ovarian Cancer Risk: Candidate Genes, Obesity, and Hormone-Related Risk Factors

Author

Usset, Joseph L, Raghavan, Rama, Tyrer, Jonathan P, McGuire, Valerie, Sieh, Weiva, Webb, Penelope, Chang-Claude, Jenny, Rudolph, Anja, Anton-Culver, Hoda, Berchuck, Andrew, Brinton, Louise, Cunningham, Julie M, DeFazio, Anna, Doherty, Jennifer A, Edwards, Robert P, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Goodman, Marc T, Høgdall, Estrid, Jensen, Allan, Johnatty, Sharon E, Kiemeney, Lambertus A, Kjaer, Susanne K, Larson, Melissa C, Lurie, Galina, Massuger, Leon, Menon, Usha, Modugno, Francesmary, Moysich, Kirsten B, Ness, Roberta B, Pike, Malcolm C, Ramus, Susan J, Rossing, Mary Anne, Rothstein, Joseph, Song, Honglin, Thompson, Pamela J, van den Berg, David J, Vierkant, Robert A, Wang-Gohrke, Shan, Wentzensen, Nicolas, Whittemore, Alice S, Wilkens, Lynne R, Wu, Anna H, Yang, Hannah, Pearce, Celeste Leigh, Schildkraut, Joellen M, Pharoah, Paul, Goode, Ellen L, and Fridley, Brooke L

Subjects
Epidemiology, Reproductive Medicine, Biomedical and Clinical Sciences, Health Sciences, Prevention, Genetics, Contraception/Reproduction, Obesity, Estrogen, Ovarian Cancer, Nutrition, Rare Diseases, Cancer, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Female, Gene-Environment Interaction, Humans, Middle Aged, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Risk Factors, Ovarian Cancer Association Consortium and the Australian Cancer Study, Medical and Health Sciences, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundMany epithelial ovarian cancer (EOC) risk factors relate to hormone exposure and elevated estrogen levels are associated with obesity in postmenopausal women. Therefore, we hypothesized that gene-environment interactions related to hormone-related risk factors could differ between obese and non-obese women.MethodsWe considered interactions between 11,441 SNPs within 80 candidate genes related to hormone biosynthesis and metabolism and insulin-like growth factors with six hormone-related factors (oral contraceptive use, parity, endometriosis, tubal ligation, hormone replacement therapy, and estrogen use) and assessed whether these interactions differed between obese and non-obese women. Interactions were assessed using logistic regression models and data from 14 case-control studies (6,247 cases; 10,379 controls). Histotype-specific analyses were also completed.ResultsSNPs in the following candidate genes showed notable interaction: IGF1R (rs41497346, estrogen plus progesterone hormone therapy, histology = all, P = 4.9 × 10(-6)) and ESR1 (rs12661437, endometriosis, histology = all, P = 1.5 × 10(-5)). The most notable obesity-gene-hormone risk factor interaction was within INSR (rs113759408, parity, histology = endometrioid, P = 8.8 × 10(-6)).ConclusionsWe have demonstrated the feasibility of assessing multifactor interactions in large genetic epidemiology studies. Follow-up studies are necessary to assess the robustness of our findings for ESR1, CYP11A1, IGF1R, CYP11B1, INSR, and IGFBP2 Future work is needed to develop powerful statistical methods able to detect these complex interactions.ImpactAssessment of multifactor interaction is feasible, and, here, suggests that the relationship between genetic variants within candidate genes and hormone-related risk factors may vary EOC susceptibility. Cancer Epidemiol Biomarkers Prev; 25(5); 780-90. ©2016 AACR.

Published
2016

4. Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer

Author

Winham, Stacey J, Pirie, Ailith, Chen, Yian Ann, Larson, Melissa C, Fogarty, Zachary C, Earp, Madalene A, Anton-Culver, Hoda, Bandera, Elisa V, Cramer, Daniel, Doherty, Jennifer A, Goodman, Marc T, Gronwald, Jacek, Karlan, Beth Y, Kjaer, Susanne K, Levine, Douglas A, Menon, Usha, Ness, Roberta B, Pearce, Celeste L, Pejovic, Tanja, Rossing, Mary Anne, Wentzensen, Nicolas, Bean, Yukie T, Bisogna, Maria, Brinton, Louise A, Carney, Michael E, Cunningham, Julie M, Cybulski, Cezary, deFazio, Anna, Dicks, Ed M, Edwards, Robert P, Gayther, Simon A, Gentry-Maharaj, Aleksandra, Gore, Martin, Iversen, Edwin S, Jensen, Allan, Johnatty, Sharon E, Lester, Jenny, Lin, Hui-Yi, Lissowska, Jolanta, Lubinski, Jan, Menkiszak, Janusz, Modugno, Francesmary, Moysich, Kirsten B, Orlow, Irene, Pike, Malcolm C, Ramus, Susan J, Song, Honglin, Terry, Kathryn L, Thompson, Pamela J, Tyrer, Jonathan P, van den Berg, David J, Vierkant, Robert A, Vitonis, Allison F, Walsh, Christine, Wilkens, Lynne R, Wu, Anna H, Yang, Hannah, Ziogas, Argyrios, Berchuck, Andrew, Group, Georgia Chenevix-Trench on behalf of Australian Ovarian Cancer Study, Schildkraut, Joellen M, Permuth-Wey, Jennifer, Phelan, Catherine M, Pharoah, Paul DP, Fridley, Brooke L, Sellers, Thomas A, and Goode, Ellen L

Subjects
Epidemiology, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Cancer, Genetics, Prevention, Clinical Research, Human Genome, Rare Diseases, Ovarian Cancer, 2.1 Biological and endogenous factors, Aetiology, Exome, Female, Genotype, Humans, Middle Aged, Ovarian Neoplasms, Survival Rate, Australian Ovarian Cancer Study Group, Medical and Health Sciences, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundWhile numerous susceptibility loci for epithelial ovarian cancer (EOC) have been identified, few associations have been reported with overall survival. In the absence of common prognostic genetic markers, we hypothesize that rare coding variants may be associated with overall EOC survival and assessed their contribution in two exome-based genotyping projects of the Ovarian Cancer Association Consortium (OCAC).MethodsThe primary patient set (Set 1) included 14 independent EOC studies (4,293 patients) and 227,892 variants, and a secondary patient set (Set 2) included six additional EOC studies (1,744 patients) and 114,620 variants. Because power to detect rare variants individually is reduced, gene-level tests were conducted. Sets were analyzed separately at individual variants and by gene, and then combined with meta-analyses (73,203 variants and 13,163 genes overlapped).ResultsNo individual variant reached genome-wide statistical significance. A SNP previously implicated to be associated with EOC risk and, to a lesser extent, survival, rs8170, showed the strongest evidence of association with survival and similar effect size estimates across sets (Pmeta = 1.1E-6, HRSet1 = 1.17, HRSet2 = 1.14). Rare variants in ATG2B, an autophagy gene important for apoptosis, were significantly associated with survival after multiple testing correction (Pmeta = 1.1E-6; Pcorrected = 0.01).ConclusionsCommon variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed.ImpactThis study represents the first exome-wide association study of EOC survival to include rare variant analyses, and suggests that complementary single variant and gene-level analyses in large studies are needed to identify rare variants that warrant follow-up study. Cancer Epidemiol Biomarkers Prev; 25(3); 446-54. ©2016 AACR.

Published
2016

5. Common variants at 19p13 are associated with susceptibility to ovarian cancer (vol 42, pg 880, 2010)

Author

Bolton, Kelly L, Tyrer, Jonathan, Song, Honglin, Ramus, Susan J, Notaridou, Maria, Jones, Chris, Sher, Tanya, Gentry-Maharaj, Aleksandra, Wozniak, Eva, Tsai, Ya-Yu, Weidhaas, Joanne, Paik, Daniel, Van den Berg, David J, Stram, Daniel O, Pearce, Celeste Leigh, Wu, Anna H, Brewster, Wendy, Anton-Culver, Hoda, Ziogas, Argyrios, Narod, Steven A, Levine, Douglas A, Kaye, Stanley B, Brown, Robert, Paul, Jim, Flanagan, James, Sieh, Weiva, McGuire, Valerie, Whittemore, Alice S, Campbell, Ian, Gore, Martin E, Lissowska, Jolanta, Yang, Hanna P, Medrek, Krzysztof, Gronwald, Jacek, Lubinski, Jan, Jakubowska, Anna, Le, Nhu D, Cook, Linda S, Kelemen, Linda E, Brooks-Wilson, Angela, Massuger, Leon FAG, Kiemeney, Lambertus A, Aben, Katja KH, van Altena, Anne M, Houlston, Richard, Tomlinson, Ian, Palmieri, Rachel T, Moorman, Patricia G, Schildkraut, Joellen, Iversen, Edwin S, Phelan, Catherine, Vierkant, Robert A, Cunningham, Julie M, Goode, Ellen L, Fridley, Brooke L, Kruger-Kjaer, Susan, Blaeker, Jan, Hogdall, Estrid, Hogdall, Claus, Gross, Jenny, Karlan, Beth Y, Ness, Roberta B, Edwards, Robert P, Odunsi, Kunle, Moyisch, Kirsten B, Baker, Julie A, Modugno, Francesmary, Heikkinenen, Tuomas, Butzow, Ralf, Nevanlinna, Heli, Leminen, Arto, Bogdanova, Natalia, Antonenkova, Natalia, Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Thompson, Pamela J, Carney, Michael E, Goodman, Marc T, Lurie, Galina, Wang-Gohrke, Shan, Hein, Rebecca, Chang-Claude, Jenny, Rossing, Mary Anne, Cushing-Haugen, Kara L, Doherty, Jennifer, Chen, Chu, Rafnar, Thorunn, Besenbacher, Soren, Sulem, Patrick, Stefansson, Kari, Birrer, Michael J, Terry, Kathryn L, Hernandez, Dena, Cramer, Daniel W, Vergote, Ignace, Amant, Frederic, Lambrechts, Diether, and Despierre, Evelyn

Subjects
Developmental Biology, Biological Sciences, Medical and Health Sciences
Published
2016

6. Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer.

Author

Bolton, Kelly L, Tyrer, Jonathan, Song, Honglin, Ramus, Susan J, Notaridou, Maria, Jones, Chris, Sher, Tanya, Gentry-Maharaj, Aleksandra, Wozniak, Eva, Tsai, Ya-Yu, Weidhaas, Joanne, Paik, Daniel, Van Den Berg, David J, Stram, Daniel O, Pearce, Celeste Leigh, Wu, Anna H, Brewster, Wendy, Anton-Culver, Hoda, Ziogas, Argyrios, Narod, Steven A, Levine, Douglas A, Kaye, Stanley B, Brown, Robert, Paul, Jim, Flanagan, James, Sieh, Weiva, McGuire, Valerie, Whittemore, Alice S, Campbell, Ian, Gore, Martin E, Lissowska, Jolanta, Yang, Hanna P, Medrek, Krzysztof, Gronwald, Jacek, Lubinski, Jan, Jakubowska, Anna, Le, Nhu D, Cook, Linda S, Kelemen, Linda E, Brooks-Wilson, Angela, Massuger, Leon FAG, Kiemeney, Lambertus A, Aben, Katja KH, van Altena, Anne M, Houlston, Richard, Tomlinson, Ian, Palmieri, Rachel T, Moorman, Patricia G, Schildkraut, Joellen, Iversen, Edwin S, Phelan, Catherine, Vierkant, Robert A, Cunningham, Julie M, Goode, Ellen L, Fridley, Brooke L, Kruger-Kjaer, Susan, Blaeker, Jan, Hogdall, Estrid, Hogdall, Claus, Gross, Jenny, Karlan, Beth Y, Ness, Roberta B, Edwards, Robert P, Odunsi, Kunle, Moyisch, Kirsten B, Baker, Julie A, Modugno, Francesmary, Heikkinenen, Tuomas, Butzow, Ralf, Nevanlinna, Heli, Leminen, Arto, Bogdanova, Natalia, Antonenkova, Natalia, Doerk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo, Thompson, Pamela J, Carney, Michael E, Goodman, Marc T, Lurie, Galina, Wang-Gohrke, Shan, Hein, Rebecca, Chang-Claude, Jenny, Rossing, Mary Anne, Cushing-Haugen, Kara L, Doherty, Jennifer, Chen, Chu, Rafnar, Thorunn, Besenbacher, Soren, Sulem, Patrick, Stefansson, Kari, Birrer, Michael J, Terry, Kathryn L, Hernandez, Dena, Cramer, Daniel W, Vergote, Ignace, Amant, Frederic, Lambrechts, Diether, and Despierre, Evelyn

Subjects
Australian Ovarian Cancer Study Group, Rare Diseases, Cancer, Ovarian Cancer, Biological Sciences, Medical and Health Sciences, Developmental Biology
Published
2016

7. Genome-wide interaction studies reveal sex-specific asthma risk alleles

Author

Myers, Rachel A, Scott, Nicole M, Gauderman, W James, Qiu, Weiliang, Mathias, Rasika A, Romieu, Isabelle, Levin, Albert M, Pino-Yanes, Maria, Graves, Penelope E, Villarreal, Albino Barraza, Beaty, Terri H, Carey, Vincent J, Croteau-Chonka, Damien C, del Rio Navarro, Blanca, Edlund, Christopher, Hernandez-Cadena, Leticia, Navarro-Olivos, Efrain, Padhukasahasram, Badri, Salam, Muhammad T, Torgerson, Dara G, Van den Berg, David J, Vora, Hita, Bleecker, Eugene R, Meyers, Deborah A, Williams, L Keoki, Martinez, Fernando D, Burchard, Esteban G, Barnes, Kathleen C, Gilliland, Frank D, Weiss, Scott T, London, Stephanie J, Raby, Benjamin A, Ober, Carole, Nicolae, Dan L, Santana, Jose Rodriguez, Cintron, William Rodriguez, Chapela, Rocio, Ford, Jean, Thyne, Shannon, Avila, Pedro C, Monge, Juan Jose Sienra, Boorgula, Meher, Cheadle, Chris, Eng, Celeste S, Kiley, J, Banks-Schlegel, S, and Gan, W

Subjects
Biological Sciences, Genetics, Clinical Research, Human Genome, Lung, Prevention, Asthma, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Respiratory, Alleles, Chromosome Mapping, Female, Gene Expression Regulation, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Odds Ratio, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Racial Groups, Reproducibility of Results, Sex Factors, GRAAD, Continental Population Groups, Medical and Health Sciences, Genetics & Heredity
Abstract

Asthma is a complex disease with sex-specific differences in prevalence. Candidate gene studies have suggested that genotype-by-sex interaction effects on asthma risk exist, but this has not yet been explored at a genome-wide level. We aimed to identify sex-specific asthma risk alleles by performing a genome-wide scan for genotype-by-sex interactions in the ethnically diverse participants in the EVE Asthma Genetics Consortium. We performed male- and female-specific genome-wide association studies in 2653 male asthma cases, 2566 female asthma cases and 3830 non-asthma controls from European American, African American, African Caribbean and Latino populations. Association tests were conducted in each study sample, and the results were combined in ancestry-specific and cross-ancestry meta-analyses. Six sex-specific asthma risk loci had P-values < 1 × 10(-6), of which two were male specific and four were female specific; all were ancestry specific. The most significant sex-specific association in European Americans was at the interferon regulatory factor 1 (IRF1) locus on 5q31.1. We also identify a Latino female-specific association in RAP1GAP2. Both of these loci included single-nucleotide polymorphisms that are known expression quantitative trait loci and have been associated with asthma in independent studies. The IRF1 locus is a strong candidate region for male-specific asthma susceptibility due to the association and validation we demonstrate here, the known role of IRF1 in asthma-relevant immune pathways and prior reports of sex-specific differences in interferon responses.

Published
2014

8. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

Author

Torgerson, Dara G, Ampleford, Elizabeth J, Chiu, Grace Y, Gauderman, W James, Gignoux, Christopher R, Graves, Penelope E, Himes, Blanca E, Levin, Albert M, Mathias, Rasika A, Hancock, Dana B, Baurley, James W, Eng, Celeste, Stern, Debra A, Celedón, Juan C, Rafaels, Nicholas, Capurso, Daniel, Conti, David V, Roth, Lindsey A, Soto-Quiros, Manuel, Togias, Alkis, Li, Xingnan, Myers, Rachel A, Romieu, Isabelle, Van Den Berg, David J, Hu, Donglei, Hansel, Nadia N, Hernandez, Ryan D, Israel, Elliott, Salam, Muhammad T, Galanter, Joshua, Avila, Pedro C, Avila, Lydiana, Rodriquez-Santana, Jose R, Chapela, Rocio, Rodriguez-Cintron, William, Diette, Gregory B, Adkinson, N Franklin, Abel, Rebekah A, Ross, Kevin D, Shi, Min, Faruque, Mezbah U, Dunston, Georgia M, Watson, Harold R, Mantese, Vito J, Ezurum, Serpil C, Liang, Liming, Ruczinski, Ingo, Ford, Jean G, Huntsman, Scott, Chung, Kian Fan, Vora, Hita, Li, Xia, Calhoun, William J, Castro, Mario, Sienra-Monge, Juan J, del Rio-Navarro, Blanca, Deichmann, Klaus A, Heinzmann, Andrea, Wenzel, Sally E, Busse, William W, Gern, James E, Lemanske, Robert F, Beaty, Terri H, Bleecker, Eugene R, Raby, Benjamin A, Meyers, Deborah A, London, Stephanie J, Mexico City Childhood Asthma Study (MCAAS), Gilliland, Frank D, Children's Health Study (CHS) and HARBORS study, Burchard, Esteban G, Genetics of Asthma in Latino Americans (GALA) Study, Study of Genes-Environment and Admixture in Latino Americans (GALA2) and Study of African Americans, Asthma, Genes & Environments (SAGE), Martinez, Fernando D, Childhood Asthma Research and Education (CARE) Network, Weiss, Scott T, Childhood Asthma Management Program (CAMP), Williams, L Keoki, Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE), Barnes, Kathleen C, Genetic Research on Asthma in African Diaspora (GRAAD) Study, Ober, Carole, and Nicolae, Dan L

Subjects
Mexico City Childhood Asthma Study, Children's Health Study (CHS) and HARBORS study, Genetics of Asthma in Latino Americans (GALA) Study, Study of Genes-Environment and Admixture in Latino Americans (GALA2) and Study of African Americans, Asthma, Genes & Environments, Childhood Asthma Research and Education (CARE) Network, Childhood Asthma Management Program, Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity, Genetic Research on Asthma in African Diaspora (GRAAD) Study, Humans, Asthma, Genetic Predisposition to Disease, Risk, African Americans, European Continental Ancestry Group, Hispanic Americans, Caribbean Region, North America, Genome-Wide Association Study, Genetic Loci, Genetics of Asthma in Latino Americans (GALA) Study, Study of Genes-Environment and Admixture in Latino Americans (GALA2) and Study of African Americans, Genes & Environments, Developmental Biology, Biological Sciences, Medical and Health Sciences
Abstract

Asthma is a common disease with a complex risk architecture including both genetic and environmental factors. We performed a meta-analysis of North American genome-wide association studies of asthma in 5,416 individuals with asthma (cases) including individuals of European American, African American or African Caribbean, and Latino ancestry, with replication in an additional 12,649 individuals from the same ethnic groups. We identified five susceptibility loci. Four were at previously reported loci on 17q21, near IL1RL1, TSLP and IL33, but we report for the first time, to our knowledge, that these loci are associated with asthma risk in three ethnic groups. In addition, we identified a new asthma susceptibility locus at PYHIN1, with the association being specific to individuals of African descent (P = 3.9 × 10(-9)). These results suggest that some asthma susceptibility loci are robust to differences in ancestry when sufficiently large samples sizes are investigated, and that ancestry-specific associations also contribute to the complex genetic architecture of asthma.

Published
2011

9. Common variants at 19p13 are associated with susceptibility to ovarian cancer.

Author

Bolton, Kelly L, Tyrer, Jonathan, Song, Honglin, Ramus, Susan J, Notaridou, Maria, Jones, Chris, Sher, Tanya, Gentry-Maharaj, Aleksandra, Wozniak, Eva, Tsai, Ya-Yu, Weidhaas, Joanne, Paik, Daniel, Van Den Berg, David J, Stram, Daniel O, Pearce, Celeste Leigh, Wu, Anna H, Brewster, Wendy, Anton-Culver, Hoda, Ziogas, Argyrios, Narod, Steven A, Levine, Douglas A, Kaye, Stanley B, Brown, Robert, Paul, Jim, Flanagan, James, Sieh, Weiva, McGuire, Valerie, Whittemore, Alice S, Campbell, Ian, Gore, Martin E, Lissowska, Jolanta, Yang, Hanna P, Medrek, Krzysztof, Gronwald, Jacek, Lubinski, Jan, Jakubowska, Anna, Le, Nhu D, Cook, Linda S, Kelemen, Linda E, Brooks-Wilson, Angela, Massuger, Leon FAG, Kiemeney, Lambertus A, Aben, Katja KH, van Altena, Anne M, Houlston, Richard, Tomlinson, Ian, Palmieri, Rachel T, Moorman, Patricia G, Schildkraut, Joellen, Iversen, Edwin S, Phelan, Catherine, Vierkant, Robert A, Cunningham, Julie M, Goode, Ellen L, Fridley, Brooke L, Kruger-Kjaer, Susan, Blaeker, Jan, Hogdall, Estrid, Hogdall, Claus, Gross, Jenny, Karlan, Beth Y, Ness, Roberta B, Edwards, Robert P, Odunsi, Kunle, Moyisch, Kirsten B, Baker, Julie A, Modugno, Francesmary, Heikkinenen, Tuomas, Butzow, Ralf, Nevanlinna, Heli, Leminen, Arto, Bogdanova, Natalia, Antonenkova, Natalia, Doerk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo, Thompson, Pamela J, Carney, Michael E, Goodman, Marc T, Lurie, Galina, Wang-Gohrke, Shan, Hein, Rebecca, Chang-Claude, Jenny, Rossing, Mary Anne, Cushing-Haugen, Kara L, Doherty, Jennifer, Chen, Chu, Rafnar, Thorunn, Besenbacher, Soren, Sulem, Patrick, Stefansson, Kari, Birrer, Michael J, Terry, Kathryn L, Hernandez, Dena, Cramer, Daniel W, Vergote, Ignace, Amant, Frederic, Lambrechts, Diether, and Despierre, Evelyn

Subjects
Australian Ovarian Cancer Study Group, Australian Cancer Study, Ovarian Cancer Association Consortium, Ovary, Tumor Cells, Cultured, Chromosomes, Human, Pair 19, Humans, Adenocarcinoma, Clear Cell, Adenocarcinoma, Mucinous, Cystadenocarcinoma, Serous, Ovarian Neoplasms, Endometrial Neoplasms, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Oligonucleotide Array Sequence Analysis, Case-Control Studies, Gene Expression Profiling, Genotype, Polymorphism, Single Nucleotide, Genome, Human, Middle Aged, Female, Genome-Wide Association Study, Biomarkers, Tumor, Tumor Cells, Cultured, Chromosomes, Human, Pair 19, Adenocarcinoma, Clear Cell, Mucinous, Cystadenocarcinoma, Serous, Adaptor Proteins, Signal Transducing, Polymorphism, Single Nucleotide, Genome, Biomarkers, Tumor, Cancer, Human Genome, Genetics, Ovarian Cancer, Orphan Drug, Rare Diseases, 2.1 Biological and endogenous factors, Developmental Biology, Medical and Health Sciences, Biological Sciences
Abstract

Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world, accounting for 4% of the deaths from cancer in women. We performed a three-phase genome-wide association study of EOC survival in 8,951 individuals with EOC (cases) with available survival time data and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P = 5 × 10⁻⁴ and P = 6 × 10⁻⁴, respectively), but they did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P = 3 × 10⁻⁹ and P = 4 × 10⁻¹¹, respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1-interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development.

Published
2010

10. Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study

Author

Song, Honglin, Ramus, Susan J, Kjaer, Susanne Krüger, DiCioccio, Richard A, Chenevix-Trench, Georgia, Pearce, Celeste Leigh, Hogdall, Estrid, Whittemore, Alice S, McGuire, Valerie, Hogdall, Claus, Blaakaer, Jan, Wu, Anna H, Van Den Berg, David J, Stram, Daniel O, Menon, Usha, Gentry-Maharaj, Aleksandra, Jacobs, Ian J, Webb, Penny M, Beesley, Jonathan, Chen, Xiaoqing, Rossing, Mary Anne, Doherty, Jennifer A, Chang-Claude, Jenny, Wang-Gohrke, Shan, Goodman, Marc T, Lurie, Galina, Thompson, Pamela J, Carney, Michael E, Ness, Roberta B, Moysich, Kirsten, Goode, Ellen L, Vierkant, Robert A, Cunningham, Julie M, Anderson, Stephanie, Schildkraut, Joellen M, Berchuck, Andrew, Iversen, Edwin S, Moorman, Patricia G, Garcia-Closas, Montserrat, Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise, Anton-Culver, Hoda, Ziogas, Argyrios, Brewster, Wendy R, Ponder, Bruce AJ, Easton, Douglas F, Gayther, Simon A, and Pharoah, Paul DP

Subjects
Biological Sciences, Genetics, Prevention, Human Genome, Ovarian Cancer, Clinical Research, Cancer, Breast Cancer, Aging, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Breast Neoplasms, Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Glycoproteins, Humans, Neuropeptides, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Risk Factors, White People, Australian Cancer (Ovarian) Study, Australian Ovarian Cancer Study Group, Ovarian Cancer Association Consortium, Medical and Health Sciences, Genetics & Heredity
Abstract

Because both ovarian and breast cancer are hormone-related and are known to have some predisposition genes in common, we evaluated 11 of the most significant hits (six with confirmed associations with breast cancer) from the breast cancer genome-wide association study for association with invasive ovarian cancer. Eleven SNPs were initially genotyped in 2927 invasive ovarian cancer cases and 4143 controls from six ovarian cancer case-control studies. Genotype frequencies in cases and controls were compared using a likelihood ratio test in a logistic regression model stratified by study. Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). These four SNPs were then genotyped in an additional 4060 cases and 6308 controls from eight independent studies. Only rs4954956 was significantly associated with ovarian cancer risk both in the replication study and in combined analyses. This association was stronger for the serous histological subtype [per minor allele odds ratio (OR) 1.07 95% CI 1.01-1.13, P-trend = 0.02 for all types of ovarian cancer and OR 1.14 95% CI 1.07-1.22, P-trend = 0.00017 for serous ovarian cancer]. In conclusion, we found that rs4954956 was associated with increased ovarian cancer risk, particularly for serous ovarian cancer. However, none of the six confirmed breast cancer susceptibility variants we tested was associated with ovarian cancer risk. Further work will be needed to identify the causal variant associated with rs4954956 or elucidate its function.

Published
2009

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