Sistematski pregled / meta-analiza 2018
Srce i krvni sudovi

Nove genetske asocijacije za krvni pritisak identifikovane interakcijom gen-alkohol kod do 570.000 pojedinaca različitih predaka.

PloS one

Bosanski prijevod

Sažetak istraživanja

Teška konzumacija alkohola je utvrđeni faktor rizika za hipertenziju; mehanizam kojim konzumacija alkohola utiče na regulaciju krvnog pritiska (BP) ostaje nepoznat. Pretpostavili smo da bi studija povezanosti na nivou genoma koja uzima u obzir interakciju konzumiranja gena i alkohola za BP mogla identificirati dodatne lokuse BP-a i doprinijeti razumijevanju regulacije BP-a povezane s alkoholom. Sproveli smo veliko istraživanje u dvije faze koje je uključivalo zajedničko testiranje glavnih genetskih efekata i interakcija varijante jedne nukleotide (SNV) i konzumacije alkohola. U fazi 1, meta-analize otkrića u cijelom genomu kod ≈131.000 osoba u nekoliko grupa predaka dale su 3.514 SNV-a (245 lokusa) sa sugestivnim dokazima o povezanosti (P ​​< 1,0 x 10-5). U fazi 2, ovi SNV-ovi su testirani na nezavisnu vanjsku replikaciju u ≈440.000 jedinki različitih predaka. Identifikovali smo i replicirali (na pragu Bonferronijeve korekcije) pet novih lokusa BP (380 SNV-a u 21 genu) i 49 ranije prijavljenih lokusa BP (2.159 SNV-a u 109 gena) u evropskom porijeklu iu meta-analizama više predaka.0 x10-8). Za uzorke afričkog porijekla, otkrili smo 18 potencijalno novih BP lokusa (P < 5,0 x 10-8) u fazi 1 koji zahtijevaju daljnju replikaciju. Pored toga, korelirana meta-analiza je identificirala osam novih lokusa BP (11 gena). Ranije je prijavljeno da je nekoliko gena u ovim lokusima (npr. PINX1, GATA4, BLK, FTO i GABBR2) povezano s konzumiranjem alkohola. Ovi nalazi pružaju uvid u ulogu konzumiranja alkohola u genetskoj arhitekturi hipertenzije.

Prikaži originalni naslov i sažetak na engleskom

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

Heavy alcohol consumption is an established risk factor for hypertension; the mechanism by which alcohol consumption impact blood pressure (BP) regulation remains unknown. We hypothesized that a genome-wide association study accounting for gene-alcohol consumption interaction for BP might identify additional BP loci and contribute to the understanding of alcohol-related BP regulation. We conducted a large two-stage investigation incorporating joint testing of main genetic effects and single nucleotide variant (SNV)-alcohol consumption interactions. In Stage 1, genome-wide discovery meta-analyses in ≈131K individuals across several ancestry groups yielded 3,514 SNVs (245 loci) with suggestive evidence of association (P < 1.0 x 10-5). In Stage 2, these SNVs were tested for independent external replication in ≈440K individuals across multiple ancestries. We identified and replicated (at Bonferroni correction threshold) five novel BP loci (380 SNVs in 21 genes) and 49 previously reported BP loci (2,159 SNVs in 109 genes) in European ancestry, and in multi-ancestry meta-analyses (P < 5.0 x 10-8). For African ancestry samples, we detected 18 potentially novel BP loci (P < 5.0 x 10-8) in Stage 1 that warrant further replication. Additionally, correlated meta-analysis identified eight novel BP loci (11 genes). Several genes in these loci (e.g., PINX1, GATA4, BLK, FTO and GABBR2) have been previously reported to be associated with alcohol consumption. These findings provide insights into the role of alcohol consumption in the genetic architecture of hypertension.

Autorstvo i publikacija

Autori

Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, Guo X, Franceschini N, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Bentley AR, Brown MR, Schwander K, Richard MA, Noordam R, Aschard H, Bartz TM, Bielak LF, Dorajoo R, Fisher V, Hartwig FP, Horimoto ARVR, Lohman KK, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Wojczynski MK, Alver M, Boissel M, Cai Q, Campbell A, Chai JF, Chen X, Divers J, Gao C, Goel A, Hagemeijer Y, Harris SE, He M, Hsu FC, Jackson AU, Kähönen M, Kasturiratne A, Komulainen P, Kühnel B, Laguzzi F, Luan J, Matoba N, Nolte IM, Padmanabhan S, Riaz M, Rueedi R, Robino A, Said MA, Scott RA, Sofer T, Stančáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Vitart V, Wang Y, Ware EB, Warren HR, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Amin N, Amini M, Arking DE, Aung T, Boerwinkle E, Borecki I, Broeckel U, Brown M, Brumat M, Burke GL, Canouil M, Chakravarti A, Charumathi S, Ida Chen YD, Connell JM, Correa A, de las Fuentes L, de Mutsert R, de Silva HJ, Deng X, Ding J, Duan Q, Eaton CB, Ehret G, Eppinga RN, Evangelou E, Faul JD, Felix SB, Forouhi NG, Forrester T, Franco OH, Friedlander Y, Gandin I, Gao H, Ghanbari M, Gigante B, Gu CC, Gu D, Hagenaars SP, Hallmans G, Harris TB, He J, Heikkinen S, Heng CK, Hirata M, Howard BV, Ikram MA, InterAct Consortium, John U, Katsuya T, Khor CC, Kilpeläinen TO, Koh WP, Krieger JE, Kritchevsky SB, Kubo M, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y, Lin S, Liu J, Liu J, Loh M, Louie T, Mägi R, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mohlke KL, Momozawa Y, Nalls MA, Nelson CP, Sotoodehnia N, Norris JM, O'Connell JR, Palmer ND, Perls T, Pedersen NL, Peters A, Peyser PA, Poulter N, Raffel LJ, Raitakari OT, Roll K, Rose LM, Rosendaal FR, Rotter JI, Schmidt CO, Schreiner PJ, Schupf N, Scott WR, Sever PS, Shi Y, Sidney S, Sims M, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Stringham HM, Tan NYQ, Tang H, Taylor KD, Teo YY, Tham YC, Turner ST, Uitterlinden AG, Vollenweider P, Waldenberger M, Wang L, Wang YX, Wei WB, Williams C, Yao J, Yu C, Yuan JM, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Deary IJ, Esko T, Farrall M, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Jonas JB, Kamatani Y, Kato N, Kooner JS, Kutalik Z, Laakso M, Laurie CC, Leander K, Lehtimäki T, Study LC, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Polasek O, Porteous DJ, Rauramaa R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Bouchard C, Christensen K, Evans MK, Gudnason V, Horta BL, Kardia SLR, Liu Y, Pereira AC, Psaty BM, Ridker PM, van Dam RM, Gauderman WJ, Zhu X, Mook-Kanamori DO, Fornage M, Rotimi CN, Cupples LA, Kelly TN, Fox ER, Hayward C, van Duijn CM, Tai ES, Wong TY, Kooperberg C, Palmas W, Rice K, Morrison AC, Elliott P, Caulfield MJ, Munroe PB, Rao DC, Province MA, Levy D.

Časopis
PloS one
Vrste publikacije
Meta-analiza, Istraživačka podrška vlade izvan SAD-a, Istraživački članak, Članak u časopisu, Vanjska istraživačka podrška NIH-a
Licenca
CC0
Citiranja u Europe PMC
85
Provjerljivi identifikatori

Izvorni podaci

DOI
10.1371/journal.pone.0198166
PMID
29912962
PMCID
PMC6005576
Provjereno
2026-07-26
Otvori cijeli rad u Europe PMC
Napomena o bosanskom prijevodu

Naslov i sažetak prevedeni su automatski i prijevod može sadržavati netačnosti ili neprecizne stručne izraze. Za sve detalje, citiranje i medicinsko tumačenje pregledajte originalnu englesku verziju članka. Ne donosite zdravstvene odluke samo na osnovu ovog prijevoda.

Pregledaj originalni članak na engleskom
Istraživački zapis služi za informiranje i istraživanje. Ne zamjenjuje medicinski savjet, dijagnozu ili preporuku liječenja.