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Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension (Dallas, Tex. : 1979)

Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, Verwoert GC, Hottenga JJ, Strawbridge RJ, Esko T, Arking DE, Hwang SJ, Guo X, Kutalik Z, Trompet S, Shrine N, Teumer A, Ried JS, Bis JC, Smith AV, Amin N, Nolte IM, Lyytikäinen LP, Mahajan A, Wareham NJ, Hofer E, Joshi PK, Kristiansson K, Traglia M, Havulinna AS, Goel A, Nalls MA, Sõber S, Vuckovic D, Luan J, Del Greco M F, Ayers KL, Marrugat J, Ruggiero D, Lopez LM, Niiranen T, Enroth S, Jackson AU, Nelson CP, Huffman JE, Zhang W, Marten J, Gandin I, Harris SE, Zemunik T, Lu Y, Evangelou E, Shah N, de Borst MH, Mangino M, Prins BP, Campbell A, Li-Gao R, Chauhan G, Oldmeadow C, Abecasis G, Abedi M, Barbieri CM, Barnes MR, Batini C, Beilby J, Blake T, Boehnke M, Bottinger EP, Braund PS, Brown M, Brumat M, Campbell H, Chambers JC, Cocca M, Collins F, Connell J, Cordell HJ, Damman JJ, Davies G, de Geus EJ, de Mutsert R, Deelen J, Demirkale Y, Doney ASF, Dörr M, Farrall M, Ferreira T, Frånberg M, Gao H, Giedraitis V, Gieger C, Giulianini F, Gow AJ, Hamsten A, Harris TB, Hofman A, Holliday EG, Hui J, Jarvelin MR, Johansson Å, Johnson AD, Jousilahti P, Jula A, Kähönen M, Kathiresan S, Khaw KT, Kolcic I, Koskinen S, Langenberg C, Larson M, Launer LJ, Lehne B, Liewald DCM, Lin L, Lind L, Mach F, Mamasoula C, Menni C, Mifsud B, Milaneschi Y, Morgan A, Morris AD, Morrison AC, Munson PJ, Nandakumar P, Nguyen QT, Nutile T, Oldehinkel AJ, Oostra BA, Org E, Padmanabhan S, Palotie A, Paré G, Pattie A, Penninx BWJH, Poulter N, Pramstaller PP, Raitakari OT, Ren M, Rice K, Ridker PM, Riese H, Ripatti S, Robino A, Rotter JI, Rudan I, Saba Y, Saint Pierre A, Sala CF, Sarin AP, Schmidt R, Scott R, Seelen MA, Shields DC, Siscovick D, Sorice R, Stanton A, Stott DJ, Sundström J, Swertz M, Taylor KD, Thom S, Tzoulaki I, Tzourio C, Uitterlinden AG, Völker U, Vollenweider P, Wild S, Willemsen G, Wright AF, Yao J, Thériault S, Conen D, Attia J, Sever P, Debette S, Mook-Kanamori DO, Zeggini E, Spector TD, van der Harst P, Palmer CNA, Vergnaud AC, Loos RJF, Polasek O, Starr JM, Girotto G, Hayward C, Kooner JS, Lindgren CM, Vitart V, Samani NJ, Tuomilehto J, Gyllensten U, Knekt P, Deary IJ, Ciullo M, Elosua R, Keavney BD, Hicks AA, Scott RA, Gasparini P, Laan M, Liu Y, Watkins H, Hartman CA, Salomaa V, Toniolo D, Perola M, Wilson JF, Schmidt H, Zhao JH, Lehtimäki T, van Duijn CM, Gudnason V, Psaty BM, Peters A, Rettig R, James A, Jukema JW, Strachan DP, Palmas W, Metspalu A, Ingelsson E, Boomsma DI, Franco OH, Bochud M, Newton-Cheh C, Munroe PB, Elliott P, Chasman DI, Chakravarti A, Knight J, Morris AP, Levy D, Tobin MD, Snieder H, Caulfield MJ, Ehret GB.
PMID: 28739976
Hypertension. 2017 Jul 24; doi: 10.1161/HYPERTENSIONAHA.117.09438. Epub 2017 Jul 24.

Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel...

Cite
Wain LV, Vaez A, Jansen R, et al. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension. 2017;doi: 10.1161/HYPERTENSIONAHA.117.09438.
Wain, L. V., Vaez, A., Jansen, R., Joehanes, R., van der Most, P. J., Erzurumluoglu, A. M., O'Reilly, P. F., Cabrera, C. P., Warren, H. R., Rose, L. M., Verwoert, G. C., Hottenga, J. J., Strawbridge, R. J., Esko, T., Arking, D. E., Hwang, S. J., Guo, X., Kutalik, Z., Trompet, S., Shrine, N., Teumer, A., Ried, J. S., Bis, J. C., Smith, A. V., Amin, N., Nolte, I. M., Lyytikäinen, L. P., Mahajan, A., Wareham, N. J., Hofer, E., Joshi, P. K., Kristiansson, K., Traglia, M., Havulinna, A. S., Goel, A., Nalls, M. A., Sõber, S., Vuckovic, D., Luan, J., Del Greco M, F., Ayers, K. L., Marrugat, J., Ruggiero, D., Lopez, L. M., Niiranen, T., Enroth, S., Jackson, A. U., Nelson, C. P., Huffman, J. E., Zhang, W., Marten, J., Gandin, I., Harris, S. E., Zemunik, T., Lu, Y., Evangelou, E., Shah, N., de Borst, M. H., Mangino, M., Prins, B. P., Campbell, A., Li-Gao, R., Chauhan, G., Oldmeadow, C., Abecasis, G., Abedi, M., Barbieri, C. M., Barnes, M. R., Batini, C., Beilby, J., Blake, T., Boehnke, M., Bottinger, E. P., Braund, P. S., Brown, M., Brumat, M., Campbell, H., Chambers, J. C., Cocca, M., Collins, F., Connell, J., Cordell, H. J., Damman, J. J., Davies, G., de Geus, E. J., de Mutsert, R., Deelen, J., Demirkale, Y., Doney, A. S. F., Dörr, M., Farrall, M., Ferreira, T., Frånberg, M., Gao, H., Giedraitis, V., Gieger, C., Giulianini, F., Gow, A. J., Hamsten, A., Harris, T. B., Hofman, A., Holliday, E. G., Hui, J., Jarvelin, M. R., Johansson, �. �., Johnson, A. D., Jousilahti, P., Jula, A., Kähönen, M., Kathiresan, S., Khaw, K. T., Kolcic, I., Koskinen, S., Langenberg, C., Larson, M., Launer, L. J., Lehne, B., Liewald, D. C. M., Lin, L., Lind, L., Mach, F., Mamasoula, C., Menni, C., Mifsud, B., Milaneschi, Y., Morgan, A., Morris, A. D., Morrison, A. C., Munson, P. J., Nandakumar, P., Nguyen, Q. T., Nutile, T., Oldehinkel, A. J., Oostra, B. A., Org, E., Padmanabhan, S., Palotie, A., Paré, G., Pattie, A., Penninx, B. W. J. H., Poulter, N., Pramstaller, P. P., Raitakari, O. T., Ren, M., Rice, K., Ridker, P. M., Riese, H., Ripatti, S., Robino, A., Rotter, J. I., Rudan, I., Saba, Y., Saint Pierre, A., Sala, C. F., Sarin, A. P., Schmidt, R., Scott, R., Seelen, M. A., Shields, D. C., Siscovick, D., Sorice, R., Stanton, A., Stott, D. J., Sundström, J., Swertz, M., Taylor, K. D., Thom, S., Tzoulaki, I., Tzourio, C., Uitterlinden, A. G., Völker, U., Vollenweider, P., Wild, S., Willemsen, G., Wright, A. F., Yao, J., Thériault, S., Conen, D., Attia, J., Sever, P., Debette, S., Mook-Kanamori, D. O., Zeggini, E., Spector, T. D., van der Harst, P., Palmer, C. N. A., Vergnaud, A. C., Loos, R. J. F., Polasek, O., Starr, J. M., Girotto, G., Hayward, C., Kooner, J. S., Lindgren, C. M., Vitart, V., Samani, N. J., Tuomilehto, J., Gyllensten, U., Knekt, P., Deary, I. J., Ciullo, M., Elosua, R., Keavney, B. D., Hicks, A. A., Scott, R. A., Gasparini, P., Laan, M., Liu, Y., Watkins, H., Hartman, C. A., Salomaa, V., Toniolo, D., Perola, M., Wilson, J. F., Schmidt, H., Zhao, J. H., Lehtimäki, T., van Duijn, C. M., Gudnason, V., Psaty, B. M., Peters, A., Rettig, R., James, A., Jukema, J. W., Strachan, D. P., Palmas, W., Metspalu, A., Ingelsson, E., Boomsma, D. I., Franco, O. H., Bochud, M., Newton-Cheh, C., Munroe, P. B., Elliott, P., Chasman, D. I., Chakravarti, A., Knight, J., Morris, A. P., Levy, D., Tobin, M. D., Snieder, H., Caulfield, M. J., & Ehret, G. B. (2017). Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension (Dallas, Tex. : 1979), . https://doi.org/10.1161/HYPERTENSIONAHA.117.09438
Wain, Louise V, et al. "Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney." Hypertension (Dallas, Tex. : 1979) vol. (2017). doi: https://doi.org/10.1161/HYPERTENSIONAHA.117.09438
Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, Erzurumluoglu AM, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, Verwoert GC, Hottenga JJ, Strawbridge RJ, Esko T, Arking DE, Hwang SJ, Guo X, Kutalik Z, Trompet S, Shrine N, Teumer A, Ried JS, Bis JC, Smith AV, Amin N, Nolte IM, Lyytikäinen LP, Mahajan A, Wareham NJ, Hofer E, Joshi PK, Kristiansson K, Traglia M, Havulinna AS, Goel A, Nalls MA, Sõber S, Vuckovic D, Luan J, Del Greco M F, Ayers KL, Marrugat J, Ruggiero D, Lopez LM, Niiranen T, Enroth S, Jackson AU, Nelson CP, Huffman JE, Zhang W, Marten J, Gandin I, Harris SE, Zemunik T, Lu Y, Evangelou E, Shah N, de Borst MH, Mangino M, Prins BP, Campbell A, Li-Gao R, Chauhan G, Oldmeadow C, Abecasis G, Abedi M, Barbieri CM, Barnes MR, Batini C, Beilby J, Blake T, Boehnke M, Bottinger EP, Braund PS, Brown M, Brumat M, Campbell H, Chambers JC, Cocca M, Collins F, Connell J, Cordell HJ, Damman JJ, Davies G, de Geus EJ, de Mutsert R, Deelen J, Demirkale Y, Doney ASF, Dörr M, Farrall M, Ferreira T, Frånberg M, Gao H, Giedraitis V, Gieger C, Giulianini F, Gow AJ, Hamsten A, Harris TB, Hofman A, Holliday EG, Hui J, Jarvelin MR, Johansson Å, Johnson AD, Jousilahti P, Jula A, Kähönen M, Kathiresan S, Khaw KT, Kolcic I, Koskinen S, Langenberg C, Larson M, Launer LJ, Lehne B, Liewald DCM, Lin L, Lind L, Mach F, Mamasoula C, Menni C, Mifsud B, Milaneschi Y, Morgan A, Morris AD, Morrison AC, Munson PJ, Nandakumar P, Nguyen QT, Nutile T, Oldehinkel AJ, Oostra BA, Org E, Padmanabhan S, Palotie A, Paré G, Pattie A, Penninx BWJH, Poulter N, Pramstaller PP, Raitakari OT, Ren M, Rice K, Ridker PM, Riese H, Ripatti S, Robino A, Rotter JI, Rudan I, Saba Y, Saint Pierre A, Sala CF, Sarin AP, Schmidt R, Scott R, Seelen MA, Shields DC, Siscovick D, Sorice R, Stanton A, Stott DJ, Sundström J, Swertz M, Taylor KD, Thom S, Tzoulaki I, Tzourio C, Uitterlinden AG, Völker U, Vollenweider P, Wild S, Willemsen G, Wright AF, Yao J, Thériault S, Conen D, Attia J, Sever P, Debette S, Mook-Kanamori DO, Zeggini E, Spector TD, van der Harst P, Palmer CNA, Vergnaud AC, Loos RJF, Polasek O, Starr JM, Girotto G, Hayward C, Kooner JS, Lindgren CM, Vitart V, Samani NJ, Tuomilehto J, Gyllensten U, Knekt P, Deary IJ, Ciullo M, Elosua R, Keavney BD, Hicks AA, Scott RA, Gasparini P, Laan M, Liu Y, Watkins H, Hartman CA, Salomaa V, Toniolo D, Perola M, Wilson JF, Schmidt H, Zhao JH, Lehtimäki T, van Duijn CM, Gudnason V, Psaty BM, Peters A, Rettig R, James A, Jukema JW, Strachan DP, Palmas W, Metspalu A, Ingelsson E, Boomsma DI, Franco OH, Bochud M, Newton-Cheh C, Munroe PB, Elliott P, Chasman DI, Chakravarti A, Knight J, Morris AP, Levy D, Tobin MD, Snieder H, Caulfield MJ, Ehret GB. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension. 2017 Jul 24; doi: 10.1161/HYPERTENSIONAHA.117.09438. Epub 2017 Jul 24. PMID: 28739976; PMCID: PMC5783787.
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A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis.

BioData mining

Lekman M, Karlsson R, Graae L, Hössjer O, Kockum I.
PMID: 26692414
BioData Min. 2015 Dec 18;8:42. doi: 10.1186/s13040-015-0076-y. eCollection 2015.

BACKGROUND: The genetic background to bipolar disorder (BPD) has been attributed to different genetic and genomic risk factors. In the present study we hypothesized that inherited copy number variations (CNVs) contribute to susceptibility of BPD. We screened 637 BP-pedigrees...

Cite
Lekman M, Karlsson R, Graae L, et al. A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. BioData Min. 2015;8:42doi: 10.1186/s13040-015-0076-y.
Lekman, M., Karlsson, R., Graae, L., Hössjer, O., & Kockum, I. (2015). A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. BioData mining, 842. https://doi.org/10.1186/s13040-015-0076-y
Lekman, Magnus, et al. "A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis." BioData mining vol. 8 (2015): 42. doi: https://doi.org/10.1186/s13040-015-0076-y
Lekman M, Karlsson R, Graae L, Hössjer O, Kockum I. A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. BioData Min. 2015 Dec 18;8:42. doi: 10.1186/s13040-015-0076-y. eCollection 2015. PMID: 26692414; PMCID: PMC4683747.
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No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees.

BMC research notes

Allen-Brady K, Farnham JM, Camp NJ, Karlins E, Ostrander EA, Cannon-Albright LA.
PMID: 19476645
BMC Res Notes. 2009 May 28;2:94. doi: 10.1186/1756-0500-2-94.

BACKGROUND: Germline mutations in the BRCA2 gene have been suggested to account for about 5% of familial prostate cancer; mutations have been reported in 2% of early onset (i.e.,

Cite
Allen-Brady K, Farnham JM, Camp NJ, et al. No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees. BMC Res Notes. 2009;2:94doi: 10.1186/1756-0500-2-94.
Allen-Brady, K., Farnham, J. M., Camp, N. J., Karlins, E., Ostrander, E. A., & Cannon-Albright, L. A. (2009). No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees. BMC research notes, 294. https://doi.org/10.1186/1756-0500-2-94
Allen-Brady, Kristina, et al. "No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees." BMC research notes vol. 2 (2009): 94. doi: https://doi.org/10.1186/1756-0500-2-94
Allen-Brady K, Farnham JM, Camp NJ, Karlins E, Ostrander EA, Cannon-Albright LA. No evidence of BRCA2 mutations in chromosome 13q-linked Utah high-risk prostate cancer pedigrees. BMC Res Notes. 2009 May 28;2:94. doi: 10.1186/1756-0500-2-94. PMID: 19476645; PMCID: PMC2694822.
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A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

Genetics research international

Lee K, Khan S, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM.
PMID: 22567352
Genet Res Int. 2011;2011:368915. doi: 10.4061/2011/368915. Epub 2011 Sep 25.

Mutations in the estrogen-related receptor beta (ESRRB) gene is the underlying cause of autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to the DFNB35 locus which maps to 14q24.3. A genome scan of a large consanguineous Pakistani pedigree with ARNSHI...

Cite
Lee K, Khan S, Ansar M, et al. A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genet Res Int. 2011;2011:368915doi: 10.4061/2011/368915.
Lee, K., Khan, S., Ansar, M., Santos-Cortez, R. L., Ahmad, W., & Leal, S. M. (2011). A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genetics research international, 2011368915. https://doi.org/10.4061/2011/368915
Lee, Kwanghyuk, et al. "A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families." Genetics research international vol. 2011 (2011): 368915. doi: https://doi.org/10.4061/2011/368915
Lee K, Khan S, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM. A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genet Res Int. 2011;2011:368915. doi: 10.4061/2011/368915. Epub 2011 Sep 25. PMID: 22567352; PMCID: PMC3335572.
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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13.

Journal of human genetics

Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A, Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM.
PMID: 33879837
J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21.

BACKGROUND: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2.METHODS: We evaluated the underlying molecular...

Cite
Acharya A, Raza SI, Anwar MZ, et al. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. J Hum Genet. 2021;66(10):1009-1018doi: 10.1038/s10038-021-00922-0.
Acharya, A., Raza, S. I., Anwar, M. Z., Bharadwaj, T., Liaqat, K., Khokhar, M. A. S., Everard, J. L., Nasir, A., Nickerson, D. A., Bamshad, M. J., Ansar, M., Schrauwen, I., Ahmad, W., & Leal, S. M. (2021). Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. Journal of human genetics, 66(10), 1009-1018. https://doi.org/10.1038/s10038-021-00922-0
Acharya, Anushree, et al. "Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13." Journal of human genetics vol. 66,10 (2021): 1009-1018. doi: https://doi.org/10.1038/s10038-021-00922-0
Acharya A, Raza SI, Anwar MZ, Bharadwaj T, Liaqat K, Khokhar MAS, Everard JL, Nasir A, Nickerson DA, Bamshad MJ, Ansar M, Schrauwen I, Ahmad W, Leal SM. Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. J Hum Genet. 2021 Oct;66(10):1009-1018. doi: 10.1038/s10038-021-00922-0. Epub 2021 Apr 21. PMID: 33879837; PMCID: PMC8472924.
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Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.

Genetics research international

Lee K, Amin Ud Din M, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM.
PMID: 22567349
Genet Res Int. 2011;2011:294675. doi: 10.4061/2011/294675. Epub 2011 Nov 01.

The RDX gene anchors cytoskeletal actin of stereocilia to hair cell transmembrane and is responsible for autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to DFNB24. A genome scan was performed using DNA samples from a consanguineous Pakistani family with...

Cite
Lee K, Amin Ud Din M, Ansar M, et al. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genet Res Int. 2011;2011:294675doi: 10.4061/2011/294675.
Lee, K., Amin Ud Din, M., Ansar, M., Santos-Cortez, R. L., Ahmad, W., & Leal, S. M. (2011). Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genetics research international, 2011294675. https://doi.org/10.4061/2011/294675
Lee, Kwanghyuk, et al. "Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene." Genetics research international vol. 2011 (2011): 294675. doi: https://doi.org/10.4061/2011/294675
Lee K, Amin Ud Din M, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM. Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. Genet Res Int. 2011;2011:294675. doi: 10.4061/2011/294675. Epub 2011 Nov 01. PMID: 22567349; PMCID: PMC3335613.
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