Genetic determinants of quantitative traits associated with cardiovascular disease risk

Smolkova, Bozena; Bonassi, Stefano; Buociková, Verona; Dušinská, Maria; Horská, Alexandra; Kuba, Daniel; Džupinková, Zuzana; Rašlová, K; Gašparovič, Juraj; Slíž, Ivan; Ceppi, Marcello; Vohnout, Branislav; Wsólová, Ladislava; Volkovová, Katarı́na

doi:10.1016/j.mrfmmm.2015.05.005

Cited by 12 publications

(14 citation statements)

References 34 publications

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“…Significant association between SNP 23 (rs1137100: Lys109Arg) and FPG levels were observed in a few studies 25, 26 , but more studies has documented that SNP 23 was not associated with T2DM 13, 27, 34 , early-onset T2DM 35 , HOMA1-IR 34 , fasting glucose 34–36 , insulin 27, 34 , leptin 27 and sLEPR levels 32 . Similarly, in our study, maternal and fetal SNP 23 as well as maternal-fetal genotype combination of SNP 23 were not associated with gestational glycemic traits (data not shown).…”

Section: Discussionmentioning

confidence: 99%

Association of maternal and fetal LEPR common variants with maternal glycemic traits during pregnancy

Lin

Yuan³

et al. 2017

Sci Rep

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Recent studies suggested that maternal and placental leptin receptor (LEPR) may be involved in maternal glucose metabolism in pregnancy. To identify maternal and fetal LEPR common variants influencing gestational glycemic traits, we performed association study of 24-28-week maternal fasting glucose, glucose 1 hour after the consumption of a 50-g oral glucose load, fasting insulin and indices of beta-cell function (HOMA-β) and insulin resistance (HOMA-IR) in 1,112 unrelated women and their children. Follow-up of 36 LEPR loci identified 3 maternal loci (rs10889567, rs1137101 and rs3762274) associated with fasting glucose, these 3 fetal loci associated with fasting insulin and HOMA1-IR, as well as these 3 maternal-fetal loci combinations associated with HOMA2-β. We also demonstrated association of maternal locus rs7554485 with HOMA2-β and HOMA2-IR, maternal locus rs10749754 with fasting glucose, fetal locus rs10749754 with HOMA2-IR. However, these associations were no longer statistically significant after Bonferroni correction. In conclusion, our results first revealed multiple associations between maternal and fetal LEPR common variants and gestational glycemic traits. These associations did not survive Bonferroni correction. These corrections are overly conservative for association studies. We therefore believe the influence of these nominally significant variants on gestational glycometabolism will be confirmed by additional studies.

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Section: Discussionmentioning

confidence: 99%

Association of maternal and fetal LEPR common variants with maternal glycemic traits during pregnancy

Lin

Yuan³

et al. 2017

Sci Rep

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“…1 These considerations can be particularly important for cardiovascular diseases (CVD), such as high blood pressure (HBP), cardiac ischemia, or stroke, which are the third cause of dead in Chile. While the precise magnitude of inheritance is specific for each disease kind, other factors also can influence disease outcome, such as the pathology subtype, age onset, and environmental factors.…”

Section: Introductionmentioning

confidence: 99%

“…While the precise magnitude of inheritance is specific for each disease kind, other factors also can influence disease outcome, such as the pathology subtype, age onset, and environmental factors. 1 These considerations can be particularly important for cardiovascular diseases (CVD), such as high blood pressure (HBP), cardiac ischemia, or stroke, which are the third cause of dead in Chile. 2 Most of these CVD are associated with increased plasma levels of low-density lipoprotein cholesterol (LDL-C).…”

Section: Introductionmentioning

confidence: 99%

Characterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels

Rojas

Ramírez

Salazar

et al. 2019

Clinical Laboratory Analysis

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BackgroundIdentification and characterization of genetic variants and their effects on human health may allow to establish relationships between genetic background and susceptibility to developing cardiovascular diseases. LDLR and PCSK9 polymorphisms have been associated with higher lipid levels and risk of cardiovascular diseases. Thus, the main aim of this study was to evaluate genotype distribution and relative allelic frequency of LDLR rs5925 (1959C > T) and PCSK9 rs505151 (23968 A > G) genetic variants and their effects on lipid levels of healthy subjects from northern Chile.MethodsA total of 178 healthy individuals were recruited for this study. The genotyping of rs5925 (LDLR) and rs505151 (PCSK9) polymorphisms was performed by PCR‐RFLP and qPCR, respectively. In addition, glucose and lipid levels were determined and associated with the genetic data.ResultsGenotype distribution for LDLR rs5925 polymorphism was as follows: CC = 19%; CT = 53%; and TT = 28% (HWE: χ 2 = 0.80; P = .37), and for PCSK9 rs505151 genetic variant was as follows: AA = 93%; AG = 7%; and GG = 0% (HWE: χ 2 = 0.22; P = .64). The frequency of T (rs5925) and G (rs505151) mutated alleles was 0.55 and 0.03, respectively. Data showed that individuals carrying LDLR mutated allele (T) presented lower values of total cholesterol, triglycerides, and LDL‐cholesterol when compared to CC homozygous genotype (P < .05). Subgroup analysis revealed that women carrying the PCSK9 mutated allele (G) exhibited higher values of total cholesterol, triglycerides, HDL‐C, and LDL‐C when compared to male group carrying the same genotype (P < .05).ConclusionsThe effect of LDLR rs5925 and PCSK9 rs505151 gene polymorphisms on lipid levels is associated with gender among healthy subjects from northern Chile.

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“…The reason for this difference is not entirely understood, and may be affected by genetic variability among single‐nucleotide polymorphisms (SNPs) and their association with early atherosclerosis and CED 10. Genetic variations have been thought to play a role in the development of cardiovascular disease, and recent studies have focused on defining the genes that are responsible 11, 12, 13, 14. New loci associated with cardiovascular risk factors, subclinical indexes, and disease end points have provided important insights that shed light on biologic pathways that may be involved in the development of cardiovascular disease.…”

Section: Introductionmentioning

confidence: 99%

Sex‐Specific Genetic Variants are Associated With Coronary Endothelial Dysfunction

Yoshino

Cilluffo

Prasad

et al. 2016

JAHA

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BackgroundEndothelial dysfunction is an early stage of atherosclerosis. Single‐nucleotide polymorphisms (SNPs) have been associated with vascular dysfunction, cardiac events, and coronary artery remodeling. We aimed to detect SNPs associated with endothelial dysfunction and determine whether these associations are sex specific.Methods and ResultsSix hundred forty‐three subjects without significant obstructive coronary artery disease underwent invasive coronary endothelial function assessment. We collected data from 1536 SNPs that had previously been associated with vasoreactivity, angiogenesis, inflammation, artery calcification, atherosclerotic risk factors, insulin resistance, hormone levels, blood coagulability, or with coronary heart disease. Coronary vascular reactivity was assessed by the percent change in coronary artery diameter ≤ −20% after an intracoronary bolus injection of acetylcholine on invasive coronary physiology study. SNPs significantly associated with coronary epicardial endothelial dysfunction were ADORA1,KCNQ1, and DNAJC4 in the whole cohort, LPA, MYBPH, ADORA3, and PON1 in women and KIF6 and NFKB1 in men (P<0.01).ConclusionsWe have identified several significant SNPs that are associated with an increased risk of coronary endothelial dysfunction. These associations appear to be sex specific and may explain gender‐related differences in development of atherosclerosis.

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Genetic determinants of quantitative traits associated with cardiovascular disease risk

Cited by 12 publications

References 34 publications

Association of maternal and fetal LEPR common variants with maternal glycemic traits during pregnancy

Association of maternal and fetal LEPR common variants with maternal glycemic traits during pregnancy

Characterization of LDLR rs5925 and PCSK9 rs505151 genetic variants frequencies in healthy subjects from northern Chile: Influence on plasma lipid levels

Sex‐Specific Genetic Variants are Associated With Coronary Endothelial Dysfunction

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