Influence of Smoking Status and Intensity on Discovery of Blood Pressure Loci Through Gene‐Smoking Interactions

Basson, Jacob; Sung, Yun Ju; Fuentes, Lisa de las; Schwander, Karen; Cupples, L. Adrienne; Rao, D. C.

doi:10.1002/gepi.21904

Cited by 17 publications

(12 citation statements)

References 30 publications

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“…For example, the SASH1 gene has been associated with thyroid function 26 and suggestively associated with responses to rate control therapy among patients with atrial fibrillation 27 . A more recent study indicated that the SASH1 gene may interact with smoking on SBP 28 . While the role of LOC105369882 in BP is unclear, another gene at this locus, CEP290 , is potentially relevant to BP regulation 29 , with mutations of this gene shown to associate with many disease phenotypes characterized by renal impairment 30, 31 .…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Gene–Sodium Interaction Analyses on Blood Pressure

Chen

et al. 2016

Hypertension

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We performed genome-wide analyses to identify genomic loci that interact with sodium to influence blood pressure (BP) using single marker (one and two degree-of-freedom joint tests) and gene-based tests among 1,876 Chinese participants of the Genetic Epidemiology Network of Salt-Sensitivity (GenSalt) study. Among GenSalt participants, the average of three urine samples was used to estimate sodium excretion. Nine BP measurements were taken using a random-zero-sphygmomanometer. A total of 2.05 million SNPs were imputed using Affymetrix 6.0 genotype data and the Chinese Han of Beijing and Japanese of Tokyo HapMap reference panel. Promising findings (P <1.00×10−4) from GenSalt were evaluated for replication among 775 Chinese participants of the Multi-ethnic Study of Atherosclerosis (MESA). SNP and gene-based results were meta-analyzed across the GenSalt and MESA studies to determine genome-wide significance. The one degree-of-freedom tests identified interactions for UST rs13211840 on diastolic BP (P=3.13×10−9). The two degree-of-freedom tests additionally identified associations for CLGN rs2567241 (P=3.90×10−12) and LOC105369882 rs11104632 (P=4.51×10−8) with systolic BP. The CLGN variant rs2567241 was also associated with diastolic BP (P=3.11×10−22) and mean arterial pressure (P= 2.86×10−15). Genome-wide gene-based analysis identified MKNK1 (P=6.70×10−7), C2orf80 (P<1.00×10−12), EPHA6 (P=2.88×10−7), SCOC-AS1 (P=4.35×10−14), SCOC (P=6.46×10−11), CLGN (P=3.68×10−13), MGAT4D (P=4.73×10−11), ARHGAP42 (P=<1.00×10−12), CASP4 (P=1.31×10−8), and LINC01478 (P=6.75×10−10) that were associated with at least one BP phenotype. In summary, we identified 8 novel and 1 previously reported BP loci through the examination of SNP and gene-based interactions with sodium.

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Section: Discussionmentioning

confidence: 99%

Genome-Wide Gene–Sodium Interaction Analyses on Blood Pressure

Chen

et al. 2016

Hypertension

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“…BP is known to be modulated by a variety of lifestyle factors, such as diet [21], exercise [22], and smoking [23], as well as other factors such as age [24, 25] and obesity [26]. In GWAS for HTN-related phenotypes, significant GxE interactions have been identified with alcohol consumption [27], body mass index (BMI) [28], smoking [29, 30], education levels [31], and sodium intake [46] which are all modifiable through lifestyle changes. These findings suggest that further investigation into GxE interaction may identify causal genetic loci that contribute to missing heritability [33].…”

Section: Introductionmentioning

confidence: 99%

A Review of the Genetics of Hypertension with a Focus on Gene-Environment Interactions

2017

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Purpose of review Here, we discuss the interpretation and modeling of gene-environment interactions in hypertension related phenotypes, with a focus on the necessary assumptions and possible challenges. Recent findings Recently, small cohort studies have discovered several novel genetic variants associated with hypertension-related phenotypes through modeling gene-environment interactions. Several consortia-based meta-analytic efforts have uncovered many novel genetic variants in hypertension without modeling interaction terms, giving promise to future meta-analytic efforts that incorporate gene-environment interactions. Summary Heritability studies and genome-wide association studies have established that hypertension, a prevalent cardiovascular disease, has a genetic component that may be modulated by the environment (such as lifestyle factors). This review includes a discussion of known genetic associations for hypertension/blood pressure, including those resulting from the incorporation of gene-environmental interaction modeling.

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“…A previous study using a systems biology approach revealed that cigarette smoke induced a concentration-dependent (direct and indirect) biological mechanism that promotes monocyte-endothelial cell adhesion (Poussin et al, 2015). Hence, the influence of smoking intensity on the detection of gene-smoking interaction was previously reported in a study of gene-smoking interaction for blood pressure in the Framingham Heart Study (Basson et al, 2015). They found different associated loci in the light smoker and the heavy smoker groups (>10 cigarettes per day).…”

Section: Discussionmentioning

confidence: 89%

Novel and Known Gene-Smoking Interactions With cIMT Identified as Potential Drivers for Atherosclerosis Risk in West-African Populations of the AWI-Gen Study

et al. 2020

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Introduction: Atherosclerosis is a key contributor to the burden of cardiovascular diseases (CVDs) and many epidemiological studies have reported on the effect of smoking on carotid intima-media thickness (cIMT) and its subsequent effect on CVD risk. Gene-environment interaction studies have contributed towards understanding some of the missing heritability of genome-wide association studies. Gene-smoking interactions on cIMT have been studied in non-African populations (European, Latino-American, and African American) but no comparable African research has been reported. Our aim was to investigate smoking-SNP interactions on cIMT in two West African populations by genome-wide analysis.Materials and methods: Only male participants from Burkina Faso (Nanoro = 993) and Ghana (Navrongo = 783) were included, as smoking was extremely rare among women. Phenotype and genotype data underwent stringent QC and genotype imputation was performed using the Sanger African Imputation Panel. Smoking prevalence among men was 13.3% in Nanoro and 42.5% in Navrongo. We analyzed gene-smoking interactions with PLINK after adjusting for covariates: age and 6 PCs (Model 1); age, BMI, blood pressure, fasting glucose, cholesterol levels, MVPA, and 6 PCs (Model 2). All analyses were performed at site level and for the combined data set. Results:In Nanoro, we identified new gene-smoking interaction variants for cIMT within the previously described RCBTB1 region (rs112017404, rs144170770, and rs4941649) (Model 1: p = 1.35E-07; Model 2: p = 3.08E-08). In the combined sample, two novel Frontiers in Genetics | www.frontiersin.org Discussion: This is the first gene-smoking interaction study for cIMT, as a risk factor for atherosclerosis, in sub-Saharan African populations. In addition to replicating previously known signals for RCBTB1, we identified two novel genomic regions (TBC1D8, near BCHE) involved in this gene-environment interaction.

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Influence of Smoking Status and Intensity on Discovery of Blood Pressure Loci Through Gene‐Smoking Interactions

Cited by 17 publications

References 30 publications

Genome-Wide Gene–Sodium Interaction Analyses on Blood Pressure

Genome-Wide Gene–Sodium Interaction Analyses on Blood Pressure

A Review of the Genetics of Hypertension with a Focus on Gene-Environment Interactions

Novel and Known Gene-Smoking Interactions With cIMT Identified as Potential Drivers for Atherosclerosis Risk in West-African Populations of the AWI-Gen Study

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