Association between 1p13.3 genomic markers and coronary artery disease: a meta-analysis involving patients and controls

Abstract

ABSTRACT. Recently, genome-wide association studies on cardiovascular disease identified a series of associated single nucleotide polymorphisms in an intergenic region of chromosome 1p13.3. We investigated the association of this locus with cardiovascular disease in 13 case-control studies and undertook a meta-analysis for effect size, heterogeneity, publication bias, and strength of evidence. English and Chinese language articles were screened for the association of 1p13.3 single nucleotide polymorphisms with coronary heart/artery disease or myocardial infarction as primary outcomes. The included articles provided race, numbers of participants, and the data necessary to compute an odds ratio. Articles were excluded if other outcomes were reported or 1p13.3 single nucleotide polymorphisms were not included. Thirtyfive articles were initially identified and 12 were eventually included in the meta-analysis. rs599839 and rs646776, representing the 1p13.3 locus, were genotyped in 13 case-control studies involving a total of 17,766 patients and 20,272 controls. For rs599839 (11 data sets), using a random-effect model, the summary odds ratio was 1.17 (95% con-9093 Association between 1p13.3 and coronary artery disease ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (3): 9092-9102 (2015) fidence interval = 1.07-1.28, P = 0.0001). For rs646776 (4 data sets), using a fixed-effects model, the summary odds ratio was 1.13 (95% confidence interval = 1.06-1.21, P = 0.0001). This broad replication provided unprecedented evidence for an association between genetic variants at chromosome 1p13.3 and the risk of cardiovascular disease.

Association of the PSRC1 rs599839 Variant with Coronary Artery Disease in a Mexican Population

“…The minor G allele of the rs599839 variant in the PSRC1 gene showed a protective effect against CAD (OR ADD = 0.72, 95% CI: 0.56–0.92, p = 0.009; OR DOM = 0.66, 95% CI: 0.49–0.89, p = 0.007). In line with our results, the major allele A of this variant has been reported as a risk factor for CAD (OR = 1.29, 95% CI: 1.18–1.40) in European populations [ 13 ], and similar results were observed in meta-analysis in both Europeans (OR = 1.11, 95% CI: 1.08–1.15) [ 11 ] and Asians (OR = 1.31, 95% CI: 1.17–1.47) [ 21 ]. Besides, the minor allele G has been associated with a protective effect against the risk of CAD (OR = 0.422, 95% CI: 0.181–0.981) and lower levels of total cholesterol and LDLc in Indians [ 22 ].…”

The effect of SORT1 rs: 599839 polymorphism on lipid profiles in Turkish population Runing Title: Relationship of rs599839 and lipid profiles

“…This locus contains the CELSR2-PSRC1-SORT1 gene cluster and it has been reported that the functional gene in this locus is SORT1 (10). The data we have obtained from epidemiological studies, cohort studies, and animal experiments have proven to us the strong relationship between sortie and lipid parameters (11)(12)(13). In addition, the effect of sortilin on the in ammatory process has been reported, independent of lipid parameters.…”

“…Therefore, the identi cation of gene regions known to have genetic effects on lipid pro les and their functional variants is very important in order to reduce the comorbidities of the disease by establishing early treatment protocols. In recent years, in studies conducted to determine predictors in CHD pathogenesis, a new candidate locus has been associated with CHD due to its effect on 1p13.3 lipid parameters (11)(12)(13)17). Although the complex scenario of sortilin's role in lipid metabolism has not been explained yet, according to the information we have obtained from experimental and functional studies, hepatic sortilin can act as a receptor for LDL-C, independent of its LDLR (18).…”

SORT1 rs599839 Polimorfizminin Lipit Profillerine Olan Etkisi: Tek Şehir Deneyimi

“…Epidemiyolojik çalışmalar, kohort çalışmaları ve hayvan deneyleri yapan çalışma gruplarının A. B. AKADAM-TEKER, E. TEKER verileri sortilin ve lipit parametreleri arasındaki güçlü ilişkiyi kanıtlar niteliktedir [11][12][13] . Ek olarak sortilin'in lipit parametrelerinden bağımsız olarak inflamatuar süreç üzerindeki etkisi de bildirilmiştir.…”