Genetics Research
rs662138
Population Frequencies11
African
C 0.9403G 0.0597CC 0.884233CG/GC 0.112042GG 0.003724pop=6,444
African American
C 0.9388G 0.0612CC 0.881553CG/GC 0.114563GG 0.003883pop=6,180
African Others
C 0.973G 0.027CC 0.94697CG/GC 0.05303GG 0pop=264
Asian
C 0.9994G 0.0006CC 0.998784CG/GC 0.001216GG 0pop=3,290
East Asian
C 0.9992G 0.0008CC 0.998494CG/GC 0.001506GG 0pop=2,656
European
C 0.82795G 0.17205CC 0.685933CG/GC 0.284026GG 0.030041pop=77,162
Latin American 1
C 0.864G 0.136CC 0.754789CG/GC 0.218391GG 0.02682pop=522
Latin American 2
C 0.741G 0.259CC 0.549053CG/GC 0.383821GG 0.067126pop=1,162
Other
C 0.8705G 0.1295CC 0.759921CG/GC 0.22123GG 0.018849pop=2,016
South Asian
C 0.838G 0.162CC 0.683453CG/GC 0.309353GG 0.007194pop=278
Studies16
Unread Studies16 ▼
1
… 相关表型相关,一个SNP rs274567 与高血压表型相关,一个SNP rs662138 与 高脂血症相关表 型相关.在去除rs1171617, rs274567 和rs662138 后,丁酰基肉毒碱与DKD 之间 的因果关系不再…
2
Recently, studies investigating the association between blood metabolites and gastrointestinal tumors have gained increased attention. A Mendelian randomization (MR) …
3
… 相关表型相关,一个SNP rs274567 与高血压表型相关,一个SNP rs662138 与 高脂血症相关表型相关.在去除rs1171617, rs274567 和rs662138 后,丁酰基肉毒碱与DKD 之间 的因果关系不再… (To investigate the causal relationship between blood metabolites and the risk of diabetic kidney disease （DKD） by using two-sample Mendelian randomization analysis. Methods: A genome-wide association study （GWAS） involving 7 824 participants provided information on 486 human blood metabolites. The preliminary analysis used DKD GWAS data from a Finnish database containing 4 111 European cases and 308 539 controls.DKD outcome data for replication analysis were obtained from the IEU OpenGWAS project website and included 1 032 European cases and 452 280 controls. Inverse variance weighting method was used as the main analysis method, supplemented by MR-Egger and weighted median method. Multiple comparisons were conducted using false discovery rate to control the level of hypothesis testing.Sensitivity analysis was performed to evaluate the reliability of the results. In addition, linkage disequilibrium score regression, steiger test, replication and meta-analysis, and confounding analysis were performed to fully verify causality. Results: γ-Glutamyl-leucine（ OR=3.71, 95%CI: 1.23-11.18, PIVW =0.019 6, PFDR=0.042）, hydroxytryptophan （OR=4.55, 95%CI: 1.81-11.48, PIVW＝0.001 3, PFDR=0.024）, octanoylcarnitine （OR=1.99, 95%CI: 1.11-3.58, PIVW=0.020 7, PFDR=0.042）, 1, 7-dimethyluric acid （OR=1.74, 95%CI: 1.04-2.90, PIVW= 0.035 1, PFDR=0.045）, bradykinin （OR=1.19, 95%CI: 1.01-1.40, PIVW=0.042 8, PFDR=0.047） and dihomo-linoleate （OR= 7.23, 95%CI: 1.07-48.59, PIVW=0.042, PFDR=0.047） were positivelycorrelated with the risk of DKD. The results of sensitivity analysis were robust and there was no heterogeneity or horizontal pleiotropy.Conclusion: This study elucidates specific blood metabolites causally associated with DKD, providing potential targets for intervention and contributing to its early screening and prevention.)
4
Neurocognitive dysfunction is observationally associated with the risk of psychiatric disorders. Blood metabolites, which are readily accessible, may become highly …
5
Abstract This study aimed to explore the potential causal association between PUFA and the risk of intrahepatic cholestasis of pregnancy (ICP) using Mendelian randomisation (MR) analysis. A two-sample MR analysis was conducted utilising large-scale European-based genome-wide association studies summary databases. The primary MR analysis was carried out using the inverse variance-weighted (IVW) method, complemented by other methods such as MR-egger, weighted-median and weighted mode. Sensitivity analysis was also performed to validate the robustness of the findings. Results indicated a 31 % reduced risk of ICP for every 1 standard deviation (s d) increase in n-3 fatty acids levels (OR = 0·69, 95 % CI: 0·54, 0·89, P = 0·004) and in the ratio of n-3 fatty acids to total fatty acids (OR = 0·69, 95 % CI: 0·53, 0·91, P = 0·008). Conversely, there was a 51 % increased risk of ICP for every 1 sd increase in the ratio of n-6 fatty acids to n-3 fatty acids (OR = 1·51, 95 % CI: 1·20, 1·91, P < 0·001) and a 138 % increased risk for every 1 sd increase in the ratio of linoleic fatty acids to total fatty acids (OR = 2·38, 95 % CI: 1·55, 3·66, P < 0·001). The findings suggest that n-3 fatty acids may have a protective effect against the risk of ICP, while n-6 fatty acids and linoleic fatty acids could be potential risk factors for ICP. The supplementation of n-3 fatty acids, as opposed to n-6 fatty acids, could be a promising strategy for the prevention and management of ICP.
6
Hispanics/Latinos 2821 (100%) NA NA NA 45 (3.2%) Non-Hispanic whites NA 1288 (47.3%) 1,424 (100%) 885 (100%) 1,088 (78.2%) African American/Others NA 1433 (52.7%) NA NA …
7
The kidneys integrate information from continuous systemic processes related to the absorption, distribution, metabolism and excretion (ADME) of metabolites. To identify underlying molecular mechanisms, we performed genome-wide association studies of the urinary concentrations of 1,172 metabolites among 1,627 patients with reduced kidney function. The 240 unique metabolite–locus associations (metabolite quantitative trait loci, mQTLs) that were identified and replicated highlight novel candidate substrates for transport proteins. The identified genes are enriched in ADME-relevant tissues and cell types, and they reveal novel candidates for biotransformation and detoxification reactions. Fine mapping of mQTLs and integration with single-cell gene expression permitted the prioritization of causal genes, functional variants and target cell types. The combination of mQTLs with genetic and health information from 450,000 UK Biobank participants illuminated metabolic mediators, and hence, novel urinary biomarkers of disease risk. This comprehensive resource of genetic targets and their substrates is informative for ADME processes in humans and is relevant to basic science, clinical medicine and pharmaceutical research. Genome-wide association analysis of 1,172 urinary metabolites identifies 240 metabolite–locus associations that when combined with UK Biobank data suggest novel metabolic mediators of disease and markers of disease risk.
8
Type 2 diabetes (T2DM) patients are at high risk for vascular complications. Some of them have even a higher risk during metformin therapy, as we have recently shown by associations …
9
… Blue arrows point to an intronic SNP in SLC22A1, rs662138, which is included in many genome-wide … The associations of rs662138 with other traits are shown in Table 1. Estimated …
10
Multiple diseases have a strong metabolic component, and metabolomics as a powerful phenotyping technology, in combination with orthogonal biological and clinical approaches, will …
11
SLC22A1 is a hepatic plasma membrane transporter that transports a wide array of endogenous and xenobiotic molecules; however its impact on the physiology has been largely …
12
… Two strong signals were found, each of which consisted of SNPs in linkage disequilibrium (LD) (Figure 1A): in addition to the association signal with rs662138 that was previously found …
13
Membrane transporters are widely expressed throughout the body, transporting nutrients, metabolites, toxins, and drugs across cellular membranes. In drug development, transporters …
14
… The strongest association was observed with the rs662138 SNP located in intron 7 of the OCT1 gene. The rs662138 SNP is in a complete genetic linkage with the most common …
15
We evaluated chr6q25.3 organic cation transporter gene (SLC22A1, SLC22A2, SLC22A3) variation and response to smoking cessation therapies. The corresponding …
16
… E-34 [81] Glycine Serum rs2216405 CPS1 1.60E-27 [81] rs7422339 CPS1 2.12E-24 [83] Succinylcarnitine Serum rs2652822 LACTB 7.20E-27 [81] Isobutyrylcarnitine Serum rs662138 …
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