Genetic risk score constructed from common genetic variants is associated with cardiovascular disease risk in type 2 diabetes mellitus

Cheng, Chun-Wen; Lin, Mei‐Chen; Liang, Wen‐Miin; Chen, Ching‐Chu; Chen, Chien-Hsiun; Wu, Jer‐Yuarn; Lin, Tao; Liao, Chiu-Chu; Huang, Shao-Mei; Hsieh, Ai-Ru; Tsai, Fuu‐Jen

doi:10.1002/jgm.3305

Cited by 9 publications

(5 citation statements)

References 49 publications

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“…Here, we combined the genotype of each neonate into a genetic score to assess the effect of RBCM-associated genetic variants (ANK1, SPTA1, SPTB, SLC4A1, and EPB41) with neonatal hyperbilirubinemia. A similar method has been employed in evaluating susceptibility genes with the risk of premature coronary artery disease, prostate cancer, and systemic lupus erythematosus [12,13]. Our results confirmed that RBCM-associated gene variants have a higher frequency (40.2%, 47/117; hyperbilirubinemia cases vs. controls, p = 0.008) in neonates of hyperbilirubinemia and showed a strong association with neonatal hyperbilirubinemia risk (OR = 9.644, p = 0.006).…”

Section: Discussionsupporting

confidence: 77%

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Red Blood Cell Membrane-Related Gene Variants and Clinical Risk Factors in Chinese Neonates with Hyperbilirubinemia

Lin

et al. 2023

Neonatology

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Introduction: Neonatal hyperbilirubinemia is common and remains a clinical concern in China. Since neonatal hyperbilirubinemia is linked to genetic factors, we aimed to identify the gene variants of the red blood cell membrane (RBCM) and evaluate the clinical risk factors in Chinese neonates with hyperbilirubinemia. Methods: 117 hyperbilirubinemia neonates (33 cases of moderate hyperbilirubinemia and 84 cases of severe hyperbilirubinemia) and 49 controls with normal bilirubin levels were selected as our study subjects. A customized 22-gene panel with next-generation sequencing (NGS) was designed to characterize genetic variations among the neonates. Sanger sequencing was used to verify the accuracy of the NGS. The clinical risk factors and potential effects of genetic variations in neonates with hyperbilirubinemia were subsequently assessed. Results: After data filtering, suspected pathogenic variants of UGT1A1, SLCCO1B1, and RBCM-associated gene were identified in neonates, the combined numbers of RBCM-associated gene variants were found to have differences between the hyperbilirubinemia group and the controls (p = 0.008), they were also different between severe hyperbilirubinemia and moderate hyperbilirubinemia (p = 0.008), and were correlated with an increased risk of hyperbilirubinemia (odds ratio = 9.644, p = 0.006). The UGT1A1-rs4148323 variant in neonates with hyperbilirubinemia was significantly increased as compared with the controls (p < 0.001). However, there was no statistical difference for the SLCO1B1-rs2306283 variant between the hyperbilirubinemia group and the controls. In addition, breastfeeding contributed to an increased risk of hyperbilirubinemia. Conclusion: Our study highlights that the RBCM-related gene variants are an underestimated risk factor, which may play an important role in developing hyperbilirubinemia in Chinese newborns.

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Section: Discussionsupporting

confidence: 77%

“…Odds ratios (ORs) and the 95% confidence interval were calculated for the high-risk versus the low-risk degree. The statistical methods were described previously [12,13]. All statistical analysis was carried out using SPSS 19.0, and p < 0.05 was considered as significantly different.…”

Section: Discussionmentioning

confidence: 99%

Red Blood Cell Membrane-Related Gene Variants and Clinical Risk Factors in Chinese Neonates with Hyperbilirubinemia

Lin

et al. 2023

Neonatology

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“…Thirty-four studies published PRSs of CAD that met the inclusion criteria of the scoping review (Table 4). 13,15,33–64 A reasonable degree of ancestral diversity was observed in the derived PRSs, including East Asian, Hispanic, African, and Middle Eastern. However, studies with sample populations of European ancestry were by far most common.…”

Section: Resultsmentioning

confidence: 94%

Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review

Phulka¹,

Ashraf²,

Bajwa³

et al. 2023

Circ: Genomic and Precision Medicine

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A polygenic risk score (PRS) is derived from a genome-wide association study and represents an aggregate of thousands of single-nucleotide polymorphisms that provide a baseline estimate of an individual’s genetic risk for a specific disease or trait at birth. However, it remains unclear how PRSs can be used in clinical practice. We provide an overview of the PRSs related to cardiometabolic disease and discuss the evidence supporting their clinical applications and limitations. The Preferred Reporting Items For Systematic Reviews and Meta-Analysis Extension for Scoping Reviews protocol was used to conduct a scoping review of the MEDLINE, EMBASE, and CENTRAL databases. Across the 4863 studies screened, 82 articles met the inclusion criteria. The most common PRS related to coronary artery disease, followed by hypertension and cerebrovascular disease. Limited ancestral diversity was observed in the study sample populations. Most studies included only individuals of European ancestry. The predictive performance of most PRSs was similar to or superior to traditional risk factors. More than half of the included studies reported an integrated risk model combining a derived PRS and clinical risk tools such as the Framingham Risk Score and Pooled Cohort Equations. The inclusion of a PRS into a clinical risk model tended to improve predictive accuracy consistently. This scoping review is the first of its kind and reports strong evidence for the clinical utility of PRSs in coronary artery disease, hypertension, cerebrovascular disease, and atrial fibrillation. However, most PRSs are generated in cohorts of European ancestry, which likely contributes to a lack of PRS transferability across different ancestral groups. Future prospective studies should focus on further establishing the clinical utility of PRSs and ensuring diversity is incorporated into genome-wide association study cohorts.

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“…PRSs may predict the risk of developing specific conditions, making them valuable tools in the development of personalised medicine and risk assessments. [19][20][21][22][23] Although few studies have investigated the PRS for SLE and its association with disease manifestations or severity, [24][25][26][27] these investigations have revealed that individuals with a high PRS for SLE are more prone to severe SLE phenotypes, early onset and higher mortality. Despite the potential applications of PRSs in SLE prediction, these scores rely solely on genetic factors and do not fully consider the influence of environmental and lifestyle factors.…”

Section: Lupus Science and Medicinementioning

confidence: 99%

Multiple polygenic risk scores can improve the prediction of systemic lupus erythematosus in Taiwan

Chen,

Liu,

et al. 2024

Lupus Sci Med

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ObjectiveTo identify new genetic variants associated with SLE in Taiwan and establish polygenic risk score (PRS) models to improve the early diagnostic accuracy of SLE.MethodsThe study enrolled 2429 patients with SLE and 48 580 controls from China Medical University Hospital in Taiwan. A genome-wide association study (GWAS) and PRS analyses of SLE and other three SLE markers, namely ANA, anti-double-stranded DNA antibody (dsDNA) and anti-Smith antibody (Sm), were conducted.ResultsGenetic variants associated with SLE were identified through GWAS. Some novel genes, which have been previously reported, such asRCC1LandEGLN3, were revealed to be associated with SLE in Taiwan. Multiple PRS models were established, and optimal cut-off points for each PRS were determined using the Youden Index. Combining the PRSs for SLE, ANA, dsDNA and Sm yielded an area under the curve of 0.64 for the optimal cut-off points. An analysis of human leucocyte antigen (HLA) haplotypes in SLE indicated that individuals with HLA-DQA1*01:01 and HLA-DQB1*05:01 were at a higher risk of being classified into the SLE group.ConclusionsThe use of PRSs to predict SLE enables the identification of high-risk patients before abnormal laboratory data were obtained or symptoms were manifested. Our findings underscore the potential of using PRSs and GWAS in identifying SLE markers, offering promise for early diagnosis and prediction of SLE.

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Genetic risk score constructed from common genetic variants is associated with cardiovascular disease risk in type 2 diabetes mellitus

Cited by 9 publications

References 49 publications

Red Blood Cell Membrane-Related Gene Variants and Clinical Risk Factors in Chinese Neonates with Hyperbilirubinemia

Red Blood Cell Membrane-Related Gene Variants and Clinical Risk Factors in Chinese Neonates with Hyperbilirubinemia

Current State and Future of Polygenic Risk Scores in Cardiometabolic Disease: A Scoping Review

Multiple polygenic risk scores can improve the prediction of systemic lupus erythematosus in Taiwan

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