Title | Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data. |
Publication Type | Journal Article |
Year of Publication | 2019 |
Authors | He, KY, Li, X, Kelly, TN, Liang, J, Cade, BE, Assimes, TL, Becker, LC, Beitelshees, AL, Bress, AP, Chang, Y-PChristy, Chen, Y-DIda, de Vries, PS, Fox, ER, Franceschini, N, Furniss, A, Gao, Y, Guo, X, Haessler, J, Hwang, S-J, Irvin, MRyan, Kalyani, RR, Liu, C-T, Liu, C, Martin, LWarsinger, Montasser, ME, Muntner, PM, Mwasongwe, S, Palmas, W, Reiner, AP, Shimbo, D, Smith, JA, Snively, BM, Yanek, LR, Boerwinkle, E, Correa, A, L Cupples, A, He, J, Kardia, SLR, Kooperberg, C, Mathias, RA, Mitchell, BD, Psaty, BM, Vasan, RS, Rao, DC, Rich, SS, Rotter, JI, Wilson, JG, Chakravarti, A, Morrison, AC, Levy, D, Arnett, DK, Redline, S, Zhu, X |
Corporate Authors | NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Blood Pressure Working Group |
Journal | Hum Genet |
Volume | 138 |
Issue | 2 |
Pagination | 199-210 |
Date Published | 2019 Feb |
ISSN | 1432-1203 |
Keywords | Alternative Splicing, Blood Pressure, Chromosomes, Human, Pair 16, Exome, Female, Follow-Up Studies, Genetic Linkage, Genetic Variation, Genome, Human, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Humans, Male, Recombinases, RNA Splicing Factors |
Abstract | In this study, we investigated low-frequency and rare variants associated with blood pressure (BP) by focusing on a linkage region on chromosome 16p13. We used whole genome sequencing (WGS) data obtained through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program on 395 Cleveland Family Study (CFS) European Americans (CFS-EA). By analyzing functional coding variants and non-coding rare variants with CADD score > 10 residing within the chromosomal region in families with linkage evidence, we observed 25 genes with nominal statistical evidence (burden or SKAT p |
DOI | 10.1007/s00439-019-01975-0 |
Alternate Journal | Hum Genet |
PubMed ID | 30671673 |
PubMed Central ID | PMC6404531 |
Grant List | R01 HG003054 / HG / NHGRI NIH HHS / United States N01HC95163 / HL / NHLBI NIH HHS / United States R01 HL086694 / HL / NHLBI NIH HHS / United States P30 DK079626 / DK / NIDDK NIH HHS / United States P30 DK063491 / DK / NIDDK NIH HHS / United States R01 HL055673 / HL / NHLBI NIH HHS / United States HHSN268201100037C / HL / NHLBI NIH HHS / United States R01 HL071025 / HL / NHLBI NIH HHS / United States R01 HL112064 / HL / NHLBI NIH HHS / United States HL113338 / HL / NHLBI NIH HHS / United States K01 HL133468 / HL / NHLBI NIH HHS / United States HHSN268201500003C / HL / NHLBI NIH HHS / United States N01HC95160 / HL / NHLBI NIH HHS / United States R01 HL120393 / HL / NHLBI NIH HHS / United States R01 HL087698 / HL / NHLBI NIH HHS / United States U54 HG003067 / HG / NHGRI NIH HHS / United States R01 HL121007 / HL / NHLBI NIH HHS / United States HHSN268201600002C / HL / NHLBI NIH HHS / United States HHSN268201500001C / HL / NHLBI NIH HHS / United States UL1 TR001079 / TR / NCATS NIH HHS / United States HHSN268201600018C / HL / NHLBI NIH HHS / United States R01 HL092577 / HL / NHLBI NIH HHS / United States R01 HL087660 / HL / NHLBI NIH HHS / United States U10 HL054464 / HL / NHLBI NIH HHS / United States N01HC95169 / HL / NHLBI NIH HHS / United States R01 HL113338 / HL / NHLBI NIH HHS / United States R01 DK117445 / DK / NIDDK NIH HHS / United States R01 HL088120 / HL / NHLBI NIH HHS / United States N01HC95164 / HL / NHLBI NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States N01HC95162 / HL / NHLBI NIH HHS / United States U01 HL054464 / HL / NHLBI NIH HHS / United States R01 HL119443 / HL / NHLBI NIH HHS / United States N01HC95168 / HL / NHLBI NIH HHS / United States U10 HL054457 / HL / NHLBI NIH HHS / United States R01 HG011052 / HG / NHGRI NIH HHS / United States U10 HL054481 / HL / NHLBI NIH HHS / United States R35 HL135818 / HL / NHLBI NIH HHS / United States R01 HL098433 / HL / NHLBI NIH HHS / United States P30 DK072488 / DK / NIDDK NIH HHS / United States HHSN268201700001I / HL / NHLBI NIH HHS / United States HHSN268201500015C / HL / NHLBI NIH HHS / United States HHSN268201600003C / HL / NHLBI NIH HHS / United States U01 HL054457 / HL / NHLBI NIH HHS / United States HHSN268201700004I / HL / NHLBI NIH HHS / United States N01HC95165 / HL / NHLBI NIH HHS / United States N01HC95159 / HL / NHLBI NIH HHS / United States HHSN268201500001I / HL / NHLBI NIH HHS / United States M01 RR000052 / RR / NCRR NIH HHS / United States N01HC95161 / HL / NHLBI NIH HHS / United States UL1 TR001420 / TR / NCATS NIH HHS / United States R01 HL049762 / HL / NHLBI NIH HHS / United States HHSN268201600004C / HL / NHLBI NIH HHS / United States U01 HL072515 / HL / NHLBI NIH HHS / United States U01 HL072518 / HL / NHLBI NIH HHS / United States HG003054 / HG / NHGRI NIH HHS / United States HHSN268201500014C / HL / NHLBI NIH HHS / United States HHSN268201600001C / HL / NHLBI NIH HHS / United States HL086694 / HL / NHLBI NIH HHS / United States R01 HL087263 / HL / NHLBI NIH HHS / United States U01 HL072507 / HL / NHLBI NIH HHS / United States N01HC95167 / HL / NHLBI NIH HHS / United States N01HC25195 / HL / NHLBI NIH HHS / United States U01 HL054481 / HL / NHLBI NIH HHS / United States R01 MD012765 / MD / NIMHD NIH HHS / United States UL1 TR000040 / TR / NCATS NIH HHS / United States T32 HL007567 / HL / NHLBI NIH HHS / United States HHSN268201700002I / HL / NHLBI NIH HHS / United States HHSN268201700005I / HL / NHLBI NIH HHS / United States R01 HL117626 / HL / NHLBI NIH HHS / United States P20 GM121334 / GM / NIGMS NIH HHS / United States N01HC95166 / HL / NHLBI NIH HHS / United States T32 DK091317 / DK / NIDDK NIH HHS / United States UL1 TR001881 / TR / NCATS NIH HHS / United States R01 HL090682 / HL / NHLBI NIH HHS / United States HHSN268201700003I / HL / NHLBI NIH HHS / United States U54 GM115428 / GM / NIGMS NIH HHS / United States R01 AG018728 / AG / NIA NIH HHS / United States K01 HL135405 / HL / NHLBI NIH HHS / United States R01 HL088119 / HL / NHLBI NIH HHS / United States |
Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.
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