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Your search keyword '"Josyula, Navya S"' showing total 9 results
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9 results on '"Josyula, Navya S"'

1. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Author

Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, and Wiggs, Janey L

Subjects
NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, and Me Research Team, Humans, Glaucoma, Open-Angle, Genetic Predisposition to Disease, Genotype, Polymorphism, Single Nucleotide, Asian Continental Ancestry Group, European Continental Ancestry Group, Genome-Wide Association Study, Genetic Loci, Glaucoma, Open-Angle, Polymorphism, Single Nucleotide
Abstract

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.

Published
2021

2. Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations

Author

Park, Joseph, Lucas, Anastasia M., Zhang, Xinyuan, Chaudhary, Kumardeep, Cho, Judy H., Nadkarni, Girish, Dobbyn, Amanda, Chittoor, Geetha, Josyula, Navya S., Katz, Nathan, Breeyear, Joseph H., Ahmadmehrabi, Shadi, Drivas, Theodore G., Chavali, Venkata R. M., Fasolino, Maria, Sawada, Hisashi, Daugherty, Alan, Li, Yanming, Zhang, Chen, Bradford, Yuki, Weaver, JoEllen, Verma, Anurag, Judy, Renae L., Kember, Rachel L., Overton, John D., Reid, Jeffrey G., Ferreira, Manuel A. R., Li, Alexander H., Baras, Aris, LeMaire, Scott A., Shen, Ying H., Naji, Ali, Kaestner, Klaus H., Vahedi, Golnaz, Edwards, Todd L., Chen, Jinbo, Damrauer, Scott M., Justice, Anne E., Do, Ron, Ritchie, Marylyn D., and Rader, Daniel J.

Published
2021
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4. A genome-wide association study of polycystic ovary syndrome identified from electronic health records

Author

Zhang, Yanfei, primary, Ho, Kevin, additional, Keaton, Jacob M., additional, Hartzel, Dustin N., additional, Day, Felix, additional, Justice, Anne E., additional, Josyula, Navya S., additional, Pendergrass, Sarah A., additional, Actkins, Ky'Era, additional, Davis, Lea K., additional, Velez Edwards, Digna R., additional, Holohan, Brody, additional, Ramirez, Andrea, additional, Stanaway, Ian B., additional, Crosslin, David R., additional, Jarvik, Gail P., additional, Sleiman, Patrick, additional, Hakonarson, Hakon, additional, Williams, Marc S., additional, and Lee, Ming Ta Michael, additional

Published
2020
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5. A genome-wide association study of polycystic ovary syndrome identified from electronic health records

Author

Zhang, Yanfei, primary, Ho, Kevin, additional, Keaton, Jacob M., additional, Hartzel, Dustin N., additional, Day, Felix, additional, Justice, Anne E., additional, Josyula, Navya S., additional, Pendergrass, Sarah A., additional, Actkins, Ky’Era, additional, Davis, Lea K., additional, Velez Edwards, Digna R., additional, Holohan, Brody, additional, Ramirez, Andrea, additional, Stanaway, Ian B., additional, Crosslin, David R., additional, Jarvik, Gail P., additional, Sleiman, Patrick, additional, Hakonarson, Hakon, additional, Williams, Marc S., additional, and Michael Lee, Ming Ta, additional

Published
2019
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6. Healthcare Utilization and Patients’ Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia

Author

Jones, Laney K., primary, Kulchak Rahm, Alanna, additional, Manickam, Kandamurugu, additional, Butry, Loren, additional, Lazzeri, Amanda, additional, Corcoran, Timothy, additional, Komar, Daniel, additional, Josyula, Navya S., additional, Pendergrass, Sarah A., additional, Sturm, Amy C., additional, and Murray, Michael F., additional

Published
2018
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7. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Author

Gharahkhani, Puya, Jorgenson, Eric, Hysi, Pirro, Khawaja, Anthony P, Pendergrass, Sarah, Han, Xikun, Ong, Jue Sheng, Hewitt, Alex W, Segrè, Ayellet V, Rouhana, John M, Hamel, Andrew R, Igo, Robert P, Choquet, Helene, Qassim, Ayub, Josyula, Navya S, Cooke Bailey, Jessica N, Bonnemaijer, Pieter WM, Iglesias, Adriana, Siggs, Owen M, Young, Terri L, Vitart, Veronique, Thiadens, Alberta AHJ, Karjalainen, Juha, Uebe, Steffen, Melles, Ronald B, Nair, K Saidas, Luben, Robert, Simcoe, Mark, Amersinghe, Nishani, Cree, Angela J, Hohn, Rene, Poplawski, Alicia, Chen, Li Jia, Rong, Shi-Song, Aung, Tin, Vithana, Eranga Nishanthie, NEIGHBORHOOD Consortium, ANZRAG Consortium, Biobank Japan Project, FinnGen Study, UK Biobank Eye And Vision Consortium, GIGA Study Group, 23 And Me Research Team, Tamiya, Gen, Shiga, Yukihiro, Yamamoto, Masayuki, Nakazawa, Toru, Currant, Hannah, Birney, Ewan, Wang, Xin, Auton, Adam, Lupton, Michelle K, Martin, Nicholas G, Ashaye, Adeyinka, Olawoye, Olusola, Williams, Susan E, Akafo, Stephen, Ramsay, Michele, Hashimoto, Kazuki, Kamatani, Yoichiro, Akiyama, Masato, Momozawa, Yukihide, Foster, Paul J, Khaw, Peng T, Morgan, James E, Strouthidis, Nicholas G, Kraft, Peter, Kang, Jae H, Pang, Chi Pui, Pasutto, Francesca, Mitchell, Paul, Lotery, Andrew J, Palotie, Aarno, Van Duijn, Cornelia, Haines, Jonathan L, Hammond, Chris, Pasquale, Louis R, Klaver, Caroline CW, Hauser, Michael, Khor, Chiea Chuen, Mackey, David A, Kubo, Michiaki, Cheng, Ching-Yu, Craig, Jamie E, MacGregor, Stuart, and Wiggs, Janey L

Subjects
genetic structures, Asian People, Genotype, Genetic Loci, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, eye diseases, Glaucoma, Open-Angle, White People, 3. Good health, Genome-Wide Association Study
Abstract

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.

8. Healthcare Utilization and Patients’ Perspectives After Receiving a Positive Genetic Test for Familial Hypercholesterolemia: A Pilot Study.

Author

Jones, Laney K., Kulchak Rahm, Alanna, Manickam, Kandamurugu, Butry, Loren, Lazzeri, Amanda, Corcoran, Timothy, Komar, Daniel, Josyula, Navya S., Pendergrass, Sarah A., Sturm, Amy C., and Murray, Michael F.

Abstract

Supplemental Digital Content is available in the text. Background: The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited condition characterized by premature cardiovascular disease. Methods: We used multiple methods to assess care in 28 MyCode participants who received FH results. Chart reviews were conducted on 23 individuals in the sample and 7 individuals participated semistructured interviews. Results: Chart reviews for 23 individuals with a Geisinger primary care provider found that 4 individuals (17% of 23) were at LDL-C (low-density lipoprotein cholesterol) goal (of either LDL-C <100 mg/dL for primary prevention and LDL-C <70 mg/dL for secondary prevention) and 17 individuals (74% of 23) were prescribed lipid-lowering therapy before genetic result disclosure. After disclosure of the genetic test result, 5 individuals (22% of 23) met their LDL-C goal and 18 individuals (78% of 23) were prescribed lipid-lowering therapy. Follow-up care about this result was not documented for 4 individuals (17% of 23). Changes to intensity of medication management were made for 8 individuals (47% of 17 individuals previously prescribed lipid-lowering therapy). Interviewed individuals (n=7) were not surprised by their result as all knew they had high cholesterol; however, individuals did not seem to discern FH as a separate condition from their high cholesterol. Conclusions: Among individuals receiving genetic diagnosis of FH, >25% had no changes to lipid-lowering therapy, despite not being at LDL-C goal and learning their high cholesterol is related to a genetic condition requiring more aggressive treatment. Individuals and clinicians may have an inadequate understanding of FH as a distinct condition requiring enhanced medical management. [ABSTRACT FROM AUTHOR]

Published
2018
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9. WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.

Author

Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier K, Chittoor G, Josyula NS, Li X, Li Z, Allison MA, Becker DM, Bielak LF, Bis JC, Boorgula MP, Bowden DW, Broome JG, Buth EJ, Carlson CS, Chang KM, Chavan S, Chiu YF, Chuang LM, Conomos MP, DeMeo DL, Du M, Duggirala R, Eng C, Fohner AE, Freedman BI, Garrett ME, Guo X, Haiman C, Heavner BD, Hidalgo B, Hixson JE, Ho YL, Hobbs BD, Hu D, Hui Q, Hwu CM, Jackson RD, Jain D, Kalyani RR, Kardia SLR, Kelly TN, Lange EM, LeNoir M, Li C, Marchand LL, McDonald MN, McHugh CP, Morrison AC, Naseri T, O'Connell J, O'Donnell CJ, Palmer ND, Pankow JS, Perry JA, Peters U, Preuss MH, Rao DC, Regan EA, Reupena SM, Roden DM, Rodriguez-Santana J, Sitlani CM, Smith JA, Tiwari HK, Vasan RS, Wang Z, Weeks DE, Wessel J, Wiggins KL, Wilkens LR, Wilson PWF, Yanek LR, Yoneda ZT, Zhao W, Zöllner S, Arnett DK, Ashley-Koch AE, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Carson AP, Chasman DI, Chen YI, Curran JE, Fornage M, Gordeuk VR, He J, Heckbert SR, Hou L, Irvin MR, Kooperberg C, Minster RL, Mitchell BD, Nouraie M, Psaty BM, Raffield LM, Reiner AP, Rich SS, Rotter JI, Shoemaker MB, Smith NL, Taylor KD, Telen MJ, Weiss ST, Zhang Y, Heard-Costa N, Sun YV, Lin X, Adrienne Cupples L, Lange LA, Liu CT, Loos RJF, North KE, and Justice AE

Abstract

Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals ( P < 5 × 10 -9 ). Notably, we identified and replicated a novel low frequency single nucleotide polymorphism (SNP) in MTMR3 that was common in individuals of African descent. Using a diverse study population, we further identified two novel secondary signals in known BMI loci and pinpointed two likely causal variants in the POC5 and DMD loci. Our work demonstrates the benefits of combining WGS and diverse cohorts in expanding current catalog of variants and genes confer risk for obesity, bringing us one step closer to personalized medicine., Competing Interests: Disclosures/Competing Interests DLD received grants from Bayer and honoraria from Novartis. BDHo receives grant support from Bayer and has received an honorarium from AstraZeneca for an educational lecture. CJO is employed by Novartis Institute of Biomedical Research, Cambridge MA KCB is an employee of Tempus. BMPs serve on the TOPMed Steering Committee. LMR is a consultant for the TOPMed Administrative Coordinating Center (through Westat). XLin is a consultant of AbbVie Pharmaceuticals and Verily Life Sciences.

Published
2023
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