Search

Your search keyword '"Velayutham, Dinesh"' showing total 35 results
Start Over Author "Velayutham, Dinesh"
35 results on '"Velayutham, Dinesh"'

5. The Indian cobra reference genome and transcriptome enables comprehensive identification of venom toxins

Author

Suryamohan, Kushal, Krishnankutty, Sajesh P., Guillory, Joseph, Jevit, Matthew, Schröder, Markus S., Wu, Meng, Kuriakose, Boney, Mathew, Oommen K., Perumal, Rajadurai C., Koludarov, Ivan, Goldstein, Leonard D., Senger, Kate, Dixon, Mandumpala Davis, Velayutham, Dinesh, Vargas, Derek, Chaudhuri, Subhra, Muraleedharan, Megha, Goel, Ridhi, Chen, Ying-Jiun J., Ratan, Aakrosh, Liu, Peter, Faherty, Brendan, de la Rosa, Guillermo, Shibata, Hiroki, Baca, Miriam, Sagolla, Meredith, Ziai, James, Wright, Gus A., Vucic, Domagoj, Mohan, Sangeetha, Antony, Aju, Stinson, Jeremy, Kirkpatrick, Donald S., Hannoush, Rami N., Durinck, Steffen, Modrusan, Zora, Stawiski, Eric W., Wiley, Kristen, Raudsepp, Terje, Kini, R. Manjunatha, Zachariah, Arun, and Seshagiri, Somasekar

Published
2020
Full Text
View/download PDF

8. Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing

Author

Gupta, Vijay, primary, Ben-Mahmoud, Afif, additional, Ku, Bonsu, additional, Velayutham, Dinesh, additional, Jan, Zainab, additional, Yousef Aden, Abdi, additional, Kubbar, Ahmad, additional, Alshaban, Fouad, additional, Stanton, Lawrence W., additional, Jithesh, Puthen Veettil, additional, Layman, Lawrence C., additional, and Kim, Hyung-Goo, additional

Published
2023
Full Text
View/download PDF

9. Association of single nucleotide polymorphisms with dyslipidemia and risk of metabolic disorders in the State of Qatar

Author

Al‐Sharshani, Dalal, primary, Velayutham, Dinesh, additional, Samara, Muthanna, additional, Gazal, Reham, additional, Al Haj Zen, Ayman, additional, Ismail, Mohamed A., additional, Ahmed, Mahmoud, additional, Nasrallah, Gheyath, additional, Younes, Salma, additional, Rizk, Nasser, additional, Hammuda, Sara, additional, Qoronfleh, M. Walid, additional, Farrell, Thomas, additional, Zayed, Hatem, additional, Abdulrouf, Palli Valapila, additional, AlDweik, Manar, additional, Silang, John Paul Ben, additional, Rahhal, Alaa, additional, Al‐Jurf, Rana, additional, Mahfouz, Ahmed, additional, Salam, Amar, additional, Al Rifai, Hilal, additional, and Al‐Dewik, Nader I., additional

Published
2023
Full Text
View/download PDF

12. Comparative Transcriptome Profiling of Disruptive Technology, Single- Molecule Direct RNA Sequencing

Author

Nandan Dharam, Velayutham Dinesh, A. Das Arya, and Pradeep Chaithra

Subjects
0303 health sciences, Thesaurus (information retrieval), RNA, Computational biology, Biology, Biochemistry, Disruptive technology, 03 medical and health sciences, Computational Mathematics, 0302 clinical medicine, Genetics, Transcriptome profiling, Molecular Biology, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

Background: The standard approach for transcriptomic profiling involves high throughput short-read sequencing technology, mainly dominated by Illumina. However, the short reads have limitations in transcriptome assembly and in obtaining full-length transcripts due to the complex nature of transcriptomes with variable length and multiple alternative spliced isoforms. Recent advances in long read sequencing by the Oxford Nanopore Technologies (ONT) offered both cDNA as well as direct RNA sequencing and has brought a paradigm change in the sequencing technology to greatly improve the assembly and expression estimates. ONT enables molecules to be sequenced without fragmentation resulting in ultra-long read length enabling the entire genes and transcripts to be fully characterized. The direct RNA sequencing method, in addition, circumvents the reverse transcription and amplification steps. Objective: In this study, RNA sequencing methods were assessed by comparing data from Illumina (ILM), ONT cDNA (OCD) and ONT direct RNA (ODR). Methods: The sensitivity & specificity of the isoform detection was determined from the data generated by Illumina, ONT cDNA and ONT direct RNA sequencing technologies using Saccharomyces cerevisiae as model. Comparative studies were conducted with two pipelines to detect the isoforms, novel genes and variable gene length. Results: Mapping metrics and qualitative profiles for different pipelines are presented to understand these disruptive technologies. The variability in sequencing technology and the analysis pipeline were studied.

Published
2020
Full Text
View/download PDF

13. Additional file 4 of Mammary epithelial cell transcriptome reveals potential roles of lncRNAs in regulating milk synthesis pathways in Jersey and Kashmiri cattle

Author

Mumtaz, Peerzada Tajamul, Bhat, Basharat, Ibeagha-Awemu, Eveline M., Taban, Qamar, Wang, Mengqi, Dar, Mashooq Ahmad, Bhat, Shakil Ahmad, Shabir, Nadeem, Shah, Riaz Ahmad, Ganie, Nazir A., Velayutham, Dinesh, Haq, Zulfqar ul, and Ahmad, Syed Mudasir

Subjects
Data_FILES
Abstract

Additional file 4.

Published
2022
Full Text
View/download PDF

14. Additional file 1 of Mammary epithelial cell transcriptome reveals potential roles of lncRNAs in regulating milk synthesis pathways in Jersey and Kashmiri cattle

Author

Mumtaz, Peerzada Tajamul, Bhat, Basharat, Ibeagha-Awemu, Eveline M., Taban, Qamar, Wang, Mengqi, Dar, Mashooq Ahmad, Bhat, Shakil Ahmad, Shabir, Nadeem, Shah, Riaz Ahmad, Ganie, Nazir A., Velayutham, Dinesh, Haq, Zulfqar ul, and Ahmad, Syed Mudasir

Subjects
Data_FILES
Abstract

Additional file 1.

Published
2022
Full Text
View/download PDF

16. Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study

Author

Frau, Francesca, Zaninello, Roberta, Salvi, Erika, Ortu, Maria Francesca, Braga, Daniele, Velayutham, Dinesh, Argiolas, Giuseppe, Fresu, Giovanni, Troffa, Chiara, Bulla, Emanuela, Bulla, Patrizia, Pitzoi, Silvia, Piras, Daniela Antonella, Glorioso, Valeria, Chittani, Martina, Bernini, Giampaolo, Bardini, Michele, Fallo, Francesco, Malatino, Lorenzo, Stancanelli, Benedetta, Regolisti, Giuseppe, Ferri, Claudio, Desideri, Giovanbattista, Scioli, Giuseppe Antonio, Galletti, Ferruccio, Sciacqua, Angela, Perticone, Francesco, Esposti, Ezio Degli, Sturani, Alessandra, Semplicini, Andrea, Veglio, Franco, Mulatero, Paolo, Williams, Tracy A, Lanzani, Chiara, Hiltunen, Timo P, Kontula, Kimmo, Boerwinkle, Eric, Turner, Stephen T, Manunta, Paolo, Barlassina, Cristina, Cusi, Daniele, and Glorioso, Nicola

Published
2014
Full Text
View/download PDF

17. Mammary Epithelial Cell Transcriptome Reveals Potential Roles of lncRNAs in Regulating Milk Synthesis Pathways in Jersey and Kashmiri Cattle

Author

Mumtaz, Peerzada Tajamul, primary, Bhat, Basharat, additional, Ibeagha-Awemu, Eveline M., additional, Taban, Qamar, additional, Wang, Mengqi, additional, Dar, Mashooq Ahmad, additional, Bhat, Shakil Ahmad, additional, Shabir, Nadeem, additional, Shah, Riaz Ahmad, additional, Ganie, Nazir Ahmad, additional, Velayutham, Dinesh, additional, Haq, Zulfkar ul, additional, and Andrabi, Syed Mudasir, additional

Published
2021
Full Text
View/download PDF

20. Complete mitogenome reveals genetic divergence and phylogenetic relationships among Indian cattle (Bos indicus) breeds

Author

Pramod, R. Kumar, primary, Velayutham, Dinesh, additional, P. K., Sajesh, additional, P. S., Beena, additional, Zachariah, Anil, additional, Zachariah, Arun, additional, B., Chandramohan, additional, S. S., Sujith, additional, P., Ganapathi, additional, Dhinoth Kumar, Bangarusamy, additional, Iype, Sosamma, additional, Gupta, Ravi, additional, Santhosh, Sam, additional, and Thomas, George, additional

Published
2018
Full Text
View/download PDF

21. The complete mitochondrial genome of Indian cattle (Bos indicus)

Author

Pramod, R. Kumar, primary, Velayutham, Dinesh, additional, P. K., Sajesh, additional, P. S., Beena, additional, Zachariah, Anil, additional, Zachariah, Arun, additional, B., Chandramohan, additional, S. S., Sujith, additional, Santhosh, Sam, additional, Iype, Sosamma, additional, P., Ganapathi, additional, Dhinoth Kumar, Bangarusamy, additional, Gupta, Ravi, additional, and Thomas, George, additional

Published
2018
Full Text
View/download PDF

22. Target Sequencing, Cell Experiments, and a Population Study Establish Endothelial Nitric Oxide Synthase (eNOS) Gene as Hypertension Susceptibility Gene

Author

Salvi, Erika, Kuznetsova, Tatiana, Thijs, Lutgarde, Lupoli, Sara, Stolarz-Skrzypek, Katarzyna, D'Avila, Francesca, Tikhonoff, Valerie, De Astis, Silvia, Barcella, Matteo, Seidlerova, Jitka, Benaglio, Paola, Malyutina, Sofia, Frau, Francesca, Velayutham, Dinesh, Benfante, Roberta, Zagato, Laura, Title, Alexandra, Braga, Daniele, Marek, Diana, Kawecka-Jaszcz, Kalina, Casiglia, Edoardo, Filipovsky, Jan, Nikitin, Yuri, Rivolta, Carlo, Manunta, Paolo, Beckmann, Jacques S., Barlassina, Cristina, Cusi, Daniele, Staessen, Jan A., Czarnecka, Danuta, Gąsowski, Jerzy, Grodzicki, Tomasz, Kloch-Badełek, Małgorzata, Olszanecka, Agnieszka, Wizner, Barbara, Epidemiologie, RS: CARIM School for Cardiovascular Diseases, Salvi, E, Kuznetsova, T, Thijs, L, Lupoli, S, STOLARZ SKRZYPEK, K, D'Avila, F, Tikhonoff, V, DE ASTIS, S, Barcella, M, Seidlerová, J, Benaglio, P, Malyutina, S, Frau, F, Velayutham, D, Benfante, R, Zagato, L, Title, A, Braga, D, Marek, D, KAWECKA JASZCZ, K, Casiglia, E, Filipovsky, J, Nikitin, Y, Rivolta, C, Manunta, Paolo, Beckmann, J, Barlassina, C, Cusi, D, and Staessen, J. A.

Subjects
Adult, Male, medicine.medical_specialty, hypertension, Genotype, Nitric Oxide Synthase Type III, Endothelium, Population, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, 0302 clinical medicine, target sequencing, population science, Enos, Internal medicine, Internal Medicine, medicine, Humans, Genetic Predisposition to Disease, endothelial nitric oxide synthase gene, Allele, Promoter Regions, Genetic, education, Alleles, 030304 developmental biology, 0303 health sciences, education.field_of_study, blood pressure, Promoter, Middle Aged, biology.organism_classification, Molecular biology, Endocrinology, medicine.anatomical_structure, Blood pressure, transfection, Case-Control Studies, Population study, Female, Endothelium, Vascular
Abstract

A case–control study revealed association between hypertension and rs3918226 in the endothelial nitric oxide synthase ( eNOS ) gene promoter (minor/major allele, T/C allele). We aimed at substantiating these preliminary findings by target sequencing, cell experiments, and a population study. We sequenced the 140-kb genomic area encompassing the eNOS gene. In HeLa and HEK293T cells transfected with the eNOS promoter carrying either the T or the C allele, we quantified transcription by luciferase assay. In 2722 randomly recruited Europeans (53.0% women; mean age 40.1 years), we studied blood pressure change and incidence of hypertension in relation to rs3918226, using multivariable-adjusted models. Sequencing confirmed rs3918226, a binding site of E-twenty six transcription factors, as the single nucleotide polymorphism most closely associated with hypertension. In T compared with C transfected cells, eNOS promoter activity was from 20% to 40% ( P TT homozygotes and by 3.8/1.9 mm Hg in 2694 C allele carriers ( P ≤0.0004). The blood pressure rise was 5.9 mm Hg systolic (confidence interval [CI], 0.6–11.1; P =0.028) and 4.8 mm Hg diastolic (CI, 1.5–8.2; P =0.0046) greater in TT homozygotes, with no differences between the CT and CC genotypes ( P ≥0.90). Among 2013 participants normotensive at baseline, 692 (34.4%) developed hypertension. The hazard ratio and attributable risk associated with TT homozygosity were 2.04 (CI, 1.24–3.37; P =0.0054) and 51.0%, respectively. In conclusion, rs3918226 in the eNOS promoter tags a hypertension susceptibility locus, TT homozygosity being associated with lesser transcription and higher risk of hypertension.

Published
2013

23. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

Author

Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E., Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathias, Lyytikainen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Boeger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Comelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpelainen, Tuomas, Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Maegi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta, Ruderfer, Douglas, Salvi, Erika, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans, Esko, Tonu, Franco, Oscar H., Fulop, Tibor, Gerhard, Glenn S., Gluemer, Charlotte, Gottesman, Omri, Grarup, Niels, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jorgensen, Torben, Jorgensen, Marit E., Kaehoenen, Mika, Kardia, Sharon L. R., Koenig, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer, Launer, Lenore J., Lauritzen, Torsten, Lehtimaki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nuernberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T., Uitterlinden, Andre G., Ulivi, Sheila, Velayutham, Dinesh, Voelker, Uwe, Volzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R., Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Koettgen, Anna, Chu, Audrey Y., Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E., Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathias, Lyytikainen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Boeger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Comelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpelainen, Tuomas, Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Maegi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta, Ruderfer, Douglas, Salvi, Erika, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans, Esko, Tonu, Franco, Oscar H., Fulop, Tibor, Gerhard, Glenn S., Gluemer, Charlotte, Gottesman, Omri, Grarup, Niels, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jorgensen, Torben, Jorgensen, Marit E., Kaehoenen, Mika, Kardia, Sharon L. R., Koenig, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer, Launer, Lenore J., Lauritzen, Torsten, Lehtimaki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nuernberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T., Uitterlinden, Andre G., Ulivi, Sheila, Velayutham, Dinesh, Voelker, Uwe, Volzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R., Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Koettgen, Anna, and Chu, Audrey Y.

Abstract

Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (n(stage1);111,666;n(stage2): 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; P-stage1<3.7 x10(-7)), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4x 10(-8) by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.

Published
2017

25. Complete mitogenome reveals genetic divergence and phylogenetic relationships among Indian cattle (Bos indicus) breeds.

Author

Pramod, R. Kumar, Velayutham, Dinesh, P. K., Sajesh, P. S., Beena, Zachariah, Anil, Zachariah, Arun, B., Chandramohan, S. S., Sujith, P., Ganapathi, Dhinoth Kumar, Bangarusamy, Iype, Sosamma, Gupta, Ravi, Santhosh, Sam, and Thomas, George

Subjects
*ZEBUS, *CATTLE, *CATTLE breeds, *MITOCHONDRIAL DNA, *BREEDING, *GENETIC distance
Abstract

Indigenous cattle of India belong to the species, Bos indicus and they possess various adaptability and production traits. However, little is known about the genetic diversity and origin of these breeds. To investigate the status, we sequenced and analyzed the whole mitochondrial DNA (mtDNA) of seven Indian cattle breeds. In total, 49 single-nucleotide variants (SNVs) were identified among the seven breeds analyzed. We observed a common synonymous SNV in the COII gene (m.7583G > A) of all the breeds studied. The phylogenetic analysis and genetic distance estimation showed the close genetic relationship among the Indian cattle breeds, whereas distinct genetic differences were observed between Bos indicus and Bos taurus cattle. Our results indicate a common ancestor for European Zwergzebu breed and South Indian cattle. The estimated divergence time demonstrated that the Bos indicus and Bos taurus cattle lineages diverged 0.92 million years ago. Our study also demonstrates that ancestors of present zebu breeds originated in South and North India separately ∼30,000 to 20,000 years ago. In conclusion, the identified genetic variants and results of the phylogenetic analysis may provide baseline information to develop appropriate strategies for management and conservation of Indian cattle breeds. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

26. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

Author

Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E, Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathia, Lyytikäinen, Leo Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S, Arking, Dan E, Bihlmeyer, Nathan A, Böger, Carsten A, Carroll, Robert J, Chasman, Daniel I, Cornelis, Marilyn C, Dehghan, Abba, Faul, Jessica D, Feitosa, Mary F, Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iri, Huang, Jinyan, Imboden, Medea, Jackson, Anne U, Jeff, Janina, Jhun, Min A, Katz, Ronit, Kifley, Annette, Kilpeläinen, Tuomas O, Kumar, Ashish, Laakso, Markku, Li Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Mägi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L, Mook Kanamori, Dennis O, Robino, Antonietta, Ruderfer, Dougla, Salvi, Erika, Schick, Ursula M, Schulz, Christina Alexandra, Smith, Albert V, Smith, Jennifer A, Traglia, Michela, Yerges Armstrong, Laura M, Zhao, Wei, Goodarzi, Mark O, Kraja, Aldi T, Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B, Bork Jensen, Jette, Bottinger, Erwin P, Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A, Campbell, Archie, Carey, David J, Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C, Cusi, Daniele, de Boer, Ian H, de Vries, Aiko P. J, Denny, Joshua C, Devuyst, Olivier, Dreisbach, Albert W, Endlich, Karlhan, Esko, Tõnu, Franco, Oscar H, Fulop, Tibor, Gerhard, Glenn S, Glümer, Charlotte, Gottesman, Omri, Grarup, Niel, Gudnason, Vilmundur, Harris, Tamara B, Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B, Husemoen, Lise Lotte N, Jackson, Rebecca D, Jørgensen, Torben, Jørgensen, Marit E, Kähönen, Mika, Kardia, Sharon L. R, König, Wolfgang, Kooperberg, Charle, Kriebel, Jennifer, Launer, Lenore J, Lauritzen, Torsten, Lehtimäki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F, Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andre, Mitchell, Paul, Nauck, Matthia, Nürnberg, Peter, Orho Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst Hensch, Nicole M, Psaty, Bruce M, Qi, Lu, Raitakari, Olli T, Reiner, Alex P, Rettig, Rainer, Ridker, Paul M, Rivadeneira, Fernando, Rossouw, Jacques E, Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T, Uitterlinden, André G, Ulivi, Sheila, Velayutham, Dinesh, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R, Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S, Franceschini, Nora, Goessling, Wolfram, Köttgen, Anna, Chu, Audrey Y., Gambaro, Giovanni (ORCID:0000-0001-5733-2370), Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E, Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathia, Lyytikäinen, Leo Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S, Arking, Dan E, Bihlmeyer, Nathan A, Böger, Carsten A, Carroll, Robert J, Chasman, Daniel I, Cornelis, Marilyn C, Dehghan, Abba, Faul, Jessica D, Feitosa, Mary F, Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iri, Huang, Jinyan, Imboden, Medea, Jackson, Anne U, Jeff, Janina, Jhun, Min A, Katz, Ronit, Kifley, Annette, Kilpeläinen, Tuomas O, Kumar, Ashish, Laakso, Markku, Li Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Mägi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L, Mook Kanamori, Dennis O, Robino, Antonietta, Ruderfer, Dougla, Salvi, Erika, Schick, Ursula M, Schulz, Christina Alexandra, Smith, Albert V, Smith, Jennifer A, Traglia, Michela, Yerges Armstrong, Laura M, Zhao, Wei, Goodarzi, Mark O, Kraja, Aldi T, Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B, Bork Jensen, Jette, Bottinger, Erwin P, Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A, Campbell, Archie, Carey, David J, Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C, Cusi, Daniele, de Boer, Ian H, de Vries, Aiko P. J, Denny, Joshua C, Devuyst, Olivier, Dreisbach, Albert W, Endlich, Karlhan, Esko, Tõnu, Franco, Oscar H, Fulop, Tibor, Gerhard, Glenn S, Glümer, Charlotte, Gottesman, Omri, Grarup, Niel, Gudnason, Vilmundur, Harris, Tamara B, Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B, Husemoen, Lise Lotte N, Jackson, Rebecca D, Jørgensen, Torben, Jørgensen, Marit E, Kähönen, Mika, Kardia, Sharon L. R, König, Wolfgang, Kooperberg, Charle, Kriebel, Jennifer, Launer, Lenore J, Lauritzen, Torsten, Lehtimäki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F, Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andre, Mitchell, Paul, Nauck, Matthia, Nürnberg, Peter, Orho Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst Hensch, Nicole M, Psaty, Bruce M, Qi, Lu, Raitakari, Olli T, Reiner, Alex P, Rettig, Rainer, Ridker, Paul M, Rivadeneira, Fernando, Rossouw, Jacques E, Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T, Uitterlinden, André G, Ulivi, Sheila, Velayutham, Dinesh, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R, Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S, Franceschini, Nora, Goessling, Wolfram, Köttgen, Anna, Chu, Audrey Y., and Gambaro, Giovanni (ORCID:0000-0001-5733-2370)

Abstract

Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (nStage1: 111,666; nStage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; PStage1<3.7×10-7), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 (P=5.4×10-8 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2-knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation.

Published
2016

27. TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives

Author

Chittani, Martina, primary, Zaninello, Roberta, additional, Lanzani, Chiara, additional, Frau, Francesca, additional, Ortu, Maria F., additional, Salvi, Erika, additional, Fresu, Giovanni, additional, Citterio, Lorena, additional, Braga, Daniele, additional, Piras, Daniela A., additional, Carpini, Simona Delli, additional, Velayutham, Dinesh, additional, Simonini, Marco, additional, Argiolas, Giuseppe, additional, Pozzoli, Simona, additional, Troffa, Chiara, additional, Glorioso, Valeria, additional, Kontula, Kimmo K., additional, Hiltunen, Timo P., additional, Donner, Kati M., additional, Turner, Stephen T., additional, Boerwinkle, Eric, additional, Chapman, Arlene B., additional, Padmanabhan, Sandosh, additional, Dominiczak, Anna F., additional, Melander, Olle, additional, Johnson, Julie A., additional, Cooper-Dehoff, Rhonda M., additional, Gong, Yan, additional, Rivera, Natalia V., additional, Condorelli, Gianluigi, additional, Trimarco, Bruno, additional, Manunta, Paolo, additional, Cusi, Daniele, additional, Glorioso, Nicola, additional, and Barlassina, Cristina, additional

Published
2015
Full Text
View/download PDF

29. The -665 C>T polymorphism in the eNOS gene predicts cardiovascular mortality and morbidity in white Europeans

Author

Olivi, Laura, primary, Gu, Yu-Mei, additional, Salvi, Erika, additional, Liu, Yan-Ping, additional, Thijs, Lutgarde, additional, Velayutham, Dinesh, additional, Jin, Yu, additional, Jacobs, Lotte, additional, D'Avila, Francesca, additional, Petit, Thibault, additional, Barcella, Matteo, additional, Lanzani, Chiara, additional, Kuznestova, Tatiana, additional, Manunta, Paolo, additional, Barlassina, Cristina, additional, Cusi, Daniele, additional, and Staessen, Jan A., additional

Published
2014
Full Text
View/download PDF

30. Cytochrome oxidase-I sequence based studies of commercially available Pangasius hypophthalmus in Italy.

Author

Bellagamba, Federica, Velayutham, Dinesh, Cozzi, Maria Cristina, Caprino, Fabio, Vasconi, Mauro, Busetto, Maria Letizia, Bagnato, Alessandro, and Moretti, Vittorio Maria

Abstract

Pangasius hypophthalmus is one of the fish consumed in the Italian diet. It is farmed and imported from Mekong delta region of Vietnam. Among several types of Pangasius, Tra (Pangasius hypophthalmus) is permitted for sales by the European Union. Since these fish species are often allegedly substituted with other morphologically similar fish due to commercial benefits, authentication of the products in the international markets become often necessary to prevent fraud and safety issues. In addition, this fish is imported as fillets without skin and bone, thus leaving the consumer’s at the risk of buying a substandard nutritional food. In this article we present the molecular approach we developed to identify Pangasius hypophthalmus from other closely related species based on cytochrome oxidase-I (COI) mitochondrial barcoding gene and further described the variants in the studied population genetic of this species. Fifty-one samples of Pangasius hypophthalmus fillets labelled as Pangasio were obtained from various markets around Milan and their COI mitochondrial barcoding gene was sequenced and studied in our bioinformatics pipeline. All samples were successfully amplified and Basic Local Alignment Search Tool results of the amplified region confirmed that all sequences analysed belonged to Pangasius hypophthalmus. Based on the variations in their barcoding region single nucleotide polymorphisms were identified and delineative statistics was calculated on the sequences. Although Pangasius hypophthalmus is considered as a monophyly, seven polymorphisms were identified. The neighbour-joining tree and the Median-joining network of haplotypes showed for all the identified haplotypes a unique cluster, with the exception of one sample. [ABSTRACT FROM AUTHOR]

Published
2015
Full Text
View/download PDF

31. The complete mitochondrial genome of Indian cattle (<italic>Bos indicus</italic>).

Author

Pramod, R. Kumar, Velayutham, Dinesh, P. K., Sajesh, P. S., Beena, Zachariah, Anil, Zachariah, Arun, B., Chandramohan, S. S., Sujith, Santhosh, Sam, Iype, Sosamma, P., Ganapathi, Dhinoth Kumar, Bangarusamy, Gupta, Ravi, and Thomas, George

Subjects
CATTLE breeds, UNGULATES, MITOCHONDRIAL DNA, CATTLE productivity, TRANSFER RNA
Abstract

India has 40 distinct zebuine cattle breeds with different adaptability and production traits. In the present study, we report the complete mitochondrial genome sequence of Indian cattle for the first time. The mitogenome contains 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes and a control region (D-loop region). The phylogenetic analysis showed close genetic relationship among the Indian cattle breeds studied, where as, distinct genetic differences were observed between Bos indicus and Bos taurus cattle. Our results will expand genomic information for further studies on evolution, domestication and conservation of indigenous cattle breeds in India. [ABSTRACT FROM AUTHOR]

Published
2018
Full Text
View/download PDF

32. Cytochrome Oxidase-ISequence Based Studies of Commercially Available Pangasius Hypophthalmusin Italy

Author

Bellagamba, Federica, Velayutham, Dinesh, Cozzi, Maria Cristina, Caprino, Fabio, Vasconi, Mauro, Busetto, Maria Letizia, Bagnato, Alessandro, and Moretti, Vittorio Maria

Abstract

Pangasius hypophthalmusis one of the fish consumed in the Italian diet. It is farmed and imported from Mekong delta region of Vietnam. Among several types of Pangasius, Tra (Pangasius hypophthalmus) is permitted for sales by the European Union. Since these fish species are often allegedly substituted with other morphologically similar fish due to commercial benefits, authentication of the products in the international markets become often necessary to prevent fraud and safety issues. In addition, this fish is imported as fillets without skin and bone, thus leaving the consumer’s at the risk of buying a substandard nutritional food. In this article we present the molecular approach we developed to identify Pangasius hypophthalmusfrom other closely related species based on cytochrome oxidase-I(COI) mitochondrial barcoding gene and further described the variants in the studied population genetic of this species. Fifty-one samples of Pangasius hypophthalmusfillets labelled as Pangasiowere obtained from various markets around Milan and their COImitochondrial barcoding gene was sequenced and studied in our bioinformatics pipeline. All samples were successfully amplified and Basic Local Alignment Search Tool results of the amplified region confirmed that all sequences analysed belonged to Pangasius hypophthalmus. Based on the variations in their barcoding region single nucleotide polymorphisms were identified and delineative statistics was calculated on the sequences. Although Pangasius hypophthalmusis considered as a monophyly, seven polymorphisms were identified. The neighbour-joining tree and the Median-joining network of haplotypes showed for all the identified haplotypes a unique cluster, with the exception of one sample.

Published
2015
Full Text
View/download PDF

33. SOS2 and ACP1 loci identified through large-scale exome chip analysis regulate kidney development and function

Author

Jacques E. Rossouw, Aldi T. Kraja, Daniel I. Chasman, Jennifer Wessel, Paul Mitchell, Erika Salvi, Adrienne Tin, Paul M. Ridker, David J. Carey, Daniele Braga, Sharon L.R. Kardia, Wolfgang König, Medea Imboden, Antonio Lupo, Paolo Gasparini, Glenn S. Gerhard, David J. Porteous, Karlhans Endlich, Mathias Gorski, Tuomas O. Kilpeläinen, Ivan Brandslund, Jinyan Huang, Min A. Jhun, Alexander P. Reiner, Christine Meisinger, Yong Li, Karen L. Mohlke, Anne U. Jackson, Janina M. Jeff, Iris M. Heid, Gary C. Curhan, Uwe Völker, Marju Orho-Melander, Allan Linneberg, Olli T. Raitakari, Caroline S. Fox, Vilmundur Gudnason, Charlotte Glümer, Ozren Polasek, Annette Kifley, David R. Weir, Konstantin Strauch, Albert V. Smith, Archie Campbell, Annette Peters, Nicole Probst-Hensch, Lu Qi, Rebecca D. Jackson, Eric Boerwinkle, Daniela Toniolo, Laura M. Yerges-Armstrong, Ruifang Li-Gao, Ian H. De Boer, Qiong Yang, Mika Kähönen, Carsten A. Böger, Dan E. Arking, Albert W. Dreisbach, Man Li, Mary F. Feitosa, Stephen T. Turner, Afshin Parsa, Charles Kooperberg, Jennifer E. Huffman, Sanaz Sedaghat, Omri Gottesman, Fernando Rivadeneira, Marit E. Jørgensen, Joshua C. Denny, Olivier Devuyst, Giovanni Malerba, Frank Schmidt, Robert J. Carroll, Michela Traglia, Chunyu Liu, Ruth J. F. Loos, Franco Giulianini, Daniel Levy, Terho Lehtimäki, Tarunveer S. Ahluwalia, Helena Kuivaniemi, Kurt Lohman, Vladan Mijatovic, Matthias Nauck, Henry Völzke, Aiko P. J. de Vries, Torben Hansen, Wolfram Goessling, Lenore J. Launer, Frank B. Hu, Tibor Fülöp, Nathan A. Bihlmeyer, Reedik Mägi, Gerard Tromp, Yingchang Lu, Jessica D. Faul, Nora Franceschini, Lise Lotte N. Husemoen, Leo Pekka Lyytikäinen, Markku Laakso, Dennis O. Mook-Kanamori, Ronit Katz, Dinesh Velayutham, Jennifer A. Smith, Teresa Nutile, David S. Siscovick, Ulrike Peters, Jie Jin Wang, Tamara B. Harris, Christina-Alexandra Schulz, Douglas Ruderfer, Mark O. Goodarzi, Oscar H. Franco, Yongmei Liu, Cramer Christensen, Nicole Soranzo, Audrey Y. Chu, Melanie Waldenberger, Oluf Pedersen, Ingrid B. Borecki, Peter Nürnberg, D. Cusi, Abbas Dehghan, Daniel R. Witte, Niels Grarup, Christian Fuchsberger, Sheila Ulivi, Josef Coresh, Evelin Mihailov, Ashok Kumar, Jennifer Kriebel, Jennifer A. Brody, Erwin P. Bottinger, Marilyn C. Cornelis, Torsten Lauritzen, Albert Hofman, Olivia Weeks, Rainer Rettig, Lynne J. Hocking, Giovanni Gambaro, André G. Uitterlinden, Anna Köttgen, Caroline Hayward, Alexander Teumer, Tõnu Esko, Antonietta Robino, Torben Jørgensen, Bruce M. Psaty, Ursula M. Schick, Rossella Sorice, Wei Zhao, Andres Metspalu, Pamela Linksted, Olle Melander, Jette Bork-Jensen, Errol D. Crook, Li, Man, Li, Yong, Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E., Tromp, Gerard, Fuchsberger, Christian, Gorski, Mathia, Lyytikäinen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A., Böger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Cornelis, Marilyn C., Dehghan, Abba, Faul, Jessica D., Feitosa, Mary F., Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iri, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpeläinen, Tuomas O., Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Mägi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta, Ruderfer, Dougla, Salvi, Erika, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V., Smith, Jennifer A., Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer, Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, De Boer, Ian H., De Vries, Aiko P. J., Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhan, Esko, Tõnu, Franco, Oscar H., Fulop, Tibor, Gerhard, Glenn S., Glümer, Charlotte, Gottesman, Omri, Grarup, Niel, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jørgensen, Torben, Jørgensen, Marit E., Kähönen, Mika, Kardia, Sharon L. R., König, Wolfgang, Kooperberg, Charle, Kriebel, Jennifer, Launer, Lenore J., Lauritzen, Torsten, Lehtimäki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F., Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andre, Mitchell, Paul, Nauck, Matthia, Nürnberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf, Peters, Annette, Peters, Ulrike, Polasek, Ozren, Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T., Uitterlinden, André G., Ulivi, Sheila, Velayutham, Dinesh, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Wang, Jie Jin, Weir, David R., Witte, Daniel, Kuivaniemi, Helena, Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Köttgen, Anna, Chu, Audrey Y., Epidemiology, Erasmus MC other, and Internal Medicine

Subjects
0301 basic medicine, Nonsynonymous substitution, Nephrology, medicine.medical_specialty, human genetics, Renal function, Genome-wide association study, Single-nucleotide polymorphism, Biology, Kidney, 03 medical and health sciences, 0302 clinical medicine, kidney development, renal function, Clinical Research, Proto-Oncogene Proteins, Internal medicine, Animals, Exome, Genetic Loci, Genome-Wide Association Study, Glomerular Filtration Rate, Humans, Protein Tyrosine Phosphatases, Son of Sevenless Proteins, Zebrafish, Journal Article, medicine, Settore MED/14 - NEFROLOGIA, human genetic, Gene, Genetic association, Genetics, Proto-Oncogene Protein, Animal, Son of Sevenless Protein, General Medicine, ta3121, 030104 developmental biology, Human Genetics, Kidney Development, Renal Function, Protein Tyrosine Phosphatase, genome, nephron, 030217 neurology & neurosurgery, Meta-Analysis, Human
Abstract

Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (nStage1: 111,666; nStage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; PStage1

Published
2017
Full Text
View/download PDF

34. TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives

Author

Simona Delli Carpini, Eric Boerwinkle, Erika Salvi, Gianluigi Condorelli, Marco Simonini, Lorena Citterio, Giovanni Fresu, Giuseppe Argiolas, Yan Gong, Sandosh Padmanabhan, Roberta Zaninello, Daniele Cusi, Anna F. Dominiczak, Daniela Antonella Piras, Maria Francesca Ortu, Dinesh Velayutham, Julie A. Johnson, Timo P. Hiltunen, Chiara Troffa, Rhonda M. Cooper-DeHoff, Chiara Lanzani, Bruno Trimarco, S. Pozzoli, Kati Donner, Daniele Braga, Nicola Glorioso, Martina Chittani, Kimmo Kontula, Cristina Barlassina, Arlene B. Chapman, Olle Melander, Francesca Frau, Paolo Manunta, Natalia V. Rivera, Valeria Glorioso, Stephen T. Turner, Chittani, Martina, Zaninello, Roberta, Lanzani, Chiara, Frau, Francesca, Ortu, Maria F, Salvi, Erika, Fresu, Giovanni, Citterio, Lorena, Braga, Daniele, Piras, Daniela A, Carpini, Simona Delli, Velayutham, Dinesh, Simonini, Marco, Argiolas, Giuseppe, Pozzoli, Simona, Troffa, Chiara, Glorioso, Valeria, Kontula, Kimmo K, Hiltunen, Timo P, Donner, Kati M, Turner, Stephen T, Boerwinkle, Eric, Chapman, Arlene B, Padmanabhan, Sandosh, Dominiczak, Anna F, Melander, Olle, Johnson, Julie A, Cooper Dehoff, Rhonda M, Gong, Yan, Rivera, Natalia V, Condorelli, Gianluigi, Trimarco, Bruno, Manunta, Paolo, Cusi, Daniele, Glorioso, Nicola, Barlassina, Cristina, Chittani, M, Zaninello, R, Lanzani, C, Frau, F, Ortu, Mf, Salvi, E, Fresu, G, Citterio, L, Braga, D, Piras, Da, Carpini, Sd, Velayutham, D, Simonini, M, Argiolas, G, Pozzoli, S, Troffa, C, Glorioso, V, Kontula, Kk, Hiltunen, Tp, Donner, Km, Turner, St, Boerwinkle, E, Chapman, Ab, Padmanabhan, S, Dominiczak, Af, Melander, O, Johnson, Ja, COOPER DEHOFF, Rm, Gong, Y, Rivera, Nv, Condorelli, G, Trimarco, B, Cusi, D, Glorioso, N, and Barlassina, C.

Subjects
Adult, Male, Physiology, medicine.drug_class, Systole, Sodium Chloride Symporter Inhibitors, Genome-wide association study, Blood Pressure, 030204 cardiovascular system & hematology, Pharmacology, Essential hypertension, Article, Losartan, White People, Dioxygenases, 03 medical and health sciences, 0302 clinical medicine, Hydrochlorothiazide, Proto-Oncogene Proteins, Internal Medicine, Medicine, Humans, Antihypertensive drug, Aldosterone, Thiazide, Antihypertensive Agents, 030304 developmental biology, Aged, 0303 health sciences, business.industry, Tumor Suppressor Proteins, Membrane Proteins, Middle Aged, medicine.disease, 3. Good health, DNA-Binding Proteins, Italy, Pharmacogenetics, Pharmacogenomics, Case-Control Studies, Hypertension, Essential Hypertension, Cardiology and Cardiovascular Medicine, business, medicine.drug, Genome-Wide Association Study
Abstract

Thiazide diuretics have been recommended as a first-line antihypertensive treatment, although the choice of 'the right drug in the individual essential hypertensive patient' remains still empirical. Essential hypertension is a complex, polygenic disease derived from the interaction of patient's genetic background with the environment. Pharmacogenomics could be a useful tool to pinpoint gene variants involved in antihypertensive drug response, thus optimizing therapeutic advantages and minimizing side effects.We looked for variants associated with blood pressure response to hydrochlorothiazide over an 8-week follow-up by means of a genome-wide association analysis in two Italian cohorts of never-treated essential hypertensive patients: 343 samples from Sardinia and 142 from Milan. TET2 and CSMD1 as plausible candidate genes to affect SBP response to hydrochlorothiazide were identified. The specificity of our findings for hydrochlorothiazide was confirmed in an independent cohort of essential hypertensive patients treated with losartan. Our best findings were also tested for replication in four independent hypertensive samples of European Ancestry, such as GENetics of drug RESponsiveness in essential hypertension, Genetic Epidemiology of Responses to Antihypertensives, NORdic DILtiazem intervention, Pharmacogenomics Evaluation of Antihypertensive Responses, and Campania Salute Network-StayOnDiur. We validated a polymorphism in CSMD1 and UGGT2.This exploratory study reports two plausible loci associated with SBP response to hydrochlorothiazide: TET2, an aldosterone-responsive mediator of αENaC gene transcription; and CSMD1, previously described as associated with hypertension in a case-control study.

Published
2015

35. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

Author

Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikäinen LP, Nutile T, Sedaghat S, Sorice R, Tin A, Yang Q, Ahluwalia TS, Arking DE, Bihlmeyer NA, Böger CA, Carroll RJ, Chasman DI, Cornelis MC, Dehghan A, Faul JD, Feitosa MF, Gambaro G, Gasparini P, Giulianini F, Heid I, Huang J, Imboden M, Jackson AU, Jeff J, Jhun MA, Katz R, Kifley A, Kilpeläinen TO, Kumar A, Laakso M, Li-Gao R, Lohman K, Lu Y, Mägi R, Malerba G, Mihailov E, Mohlke KL, Mook-Kanamori DO, Robino A, Ruderfer D, Salvi E, Schick UM, Schulz CA, Smith AV, Smith JA, Traglia M, Yerges-Armstrong LM, Zhao W, Goodarzi MO, Kraja AT, Liu C, Wessel J, Boerwinkle E, Borecki IB, Bork-Jensen J, Bottinger EP, Braga D, Brandslund I, Brody JA, Campbell A, Carey DJ, Christensen C, Coresh J, Crook E, Curhan GC, Cusi D, de Boer IH, de Vries AP, Denny JC, Devuyst O, Dreisbach AW, Endlich K, Esko T, Franco OH, Fulop T, Gerhard GS, Glümer C, Gottesman O, Grarup N, Gudnason V, Hansen T, Harris TB, Hayward C, Hocking L, Hofman A, Hu FB, Husemoen LL, Jackson RD, Jørgensen T, Jørgensen ME, Kähönen M, Kardia SL, König W, Kooperberg C, Kriebel J, Launer LJ, Lauritzen T, Lehtimäki T, Levy D, Linksted P, Linneberg A, Liu Y, Loos RJ, Lupo A, Meisinger C, Melander O, Metspalu A, Mitchell P, Nauck M, Nürnberg P, Orho-Melander M, Parsa A, Pedersen O, Peters A, Peters U, Polasek O, Porteous D, Probst-Hensch NM, Psaty BM, Qi L, Raitakari OT, Reiner AP, Rettig R, Ridker PM, Rivadeneira F, Rossouw JE, Schmidt F, Siscovick D, Soranzo N, Strauch K, Toniolo D, Turner ST, Uitterlinden AG, Ulivi S, Velayutham D, Völker U, Völzke H, Waldenberger M, Wang JJ, Weir DR, Witte D, Kuivaniemi H, Fox CS, Franceschini N, Goessling W, Köttgen A, and Chu AY

Subjects
Animals, Genetic Loci, Genome-Wide Association Study, Humans, Zebrafish, Exome genetics, Glomerular Filtration Rate genetics, Kidney embryology, Protein Tyrosine Phosphatases genetics, Proto-Oncogene Proteins genetics, Son of Sevenless Proteins genetics
Abstract

Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium ( n Stage1 : 111,666; n Stage2 : 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea ( PPM1J , EDEM3, ACP1, SPEG, EYA4, CYP1A1 , and ATXN2L ; P Stage1 <3.7×10 -7 ), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified associations of functional rare variants in three genes with eGFRcrea, including a novel association with the SOS Ras/Rho guanine nucleotide exchange factor 2 gene, SOS2 ( P =5.4×10 -8 by sequence kernel association test). Experimental follow-up in zebrafish embryos revealed changes in glomerular gene expression and renal tubule morphology in the embryonic kidney of acp1- and sos2 -knockdowns. These developmental abnormalities associated with altered blood clearance rate and heightened prevalence of edema. This study expands the number of loci associated with kidney function and identifies novel genes with potential roles in kidney formation., (Copyright © 2017 by the American Society of Nephrology.)

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results