Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.

摘要: There is increasing evidence that the microcirculation plays an important role in pathogenesis of cardiovascular diseases. Changes retinal vascular caliber reflect early microvascular disease and predict incident events. We performed a genome-wide association study to identify genetic variants associated with caliber. analyzed data from four population-based discovery cohorts 15,358 unrelated Caucasian individuals, who are members Cohort for Heart Aging Research Genomic Epidemiology (CHARGE) consortium, replicated findings independent (n = 6,652). All participants had photography arteriolar venular measured computer software. In cohorts, 179 single nucleotide polymorphisms (SNP) spread across five loci were significantly (p<5.0×10-8) caliber, but none showed Collectively, these explain 1.0%-3.2% variation Four out confirmed replication samples. combined analyses, top SNPs at each locus were: rs2287921 (19q13; p 1.61×10-25, within RASIP1 locus), rs225717 (6q24; 1.25×10-16, adjacent VTA1 NMBR loci), rs10774625 (12q24; 2.15×10-13, region ATXN2,SH2B3 PTPN11 rs17421627 (5q14; 7.32×10-16, MEF2C locus). two samples, 12q24 was also coronary heart hypertension. Our demonstrates novel endophenotype clinical disease. These provide further insights into contribution biological mechanisms microcirculatory changes underlie