• Genomics & Informatics
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• 제19권4호
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• pp.36.1-36.11
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• 2021

Predicting individual traits and diseases from genetic variants is critical to fulfilling the promise of personalized medicine. The genetic variants from genome-wide association studies (GWAS), including variants well below GWAS significance, can be aggregated into highly significant predictions across a wide range of complex traits and diseases. The recent arrival of large-sample public biobanks enables highly accurate polygenic predictions based on genetic variants across the whole genome. Various statistical methodologies and diverse computational tools have been introduced and developed to computed the polygenic risk score (PRS) more accurately. However, many researchers utilize PRS tools without a thorough understanding of the underlying model and how to specify the parameters for the best performance. It is advantageous to study the statistical models implemented in computational tools for PRS estimation and the formulas of parameters to be specified. Here, we review a variety of recent statistical methodologies and computational tools for PRS computation.

• 대한조현병학회지
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• 제23권2호
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• pp.65-70
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• 2020

Objectives: This study aimed to explore whether common genetic variants that confer the risk of schizophrenia have similar effects between Korean and European ancestries using the polygenic risk score (PRS) analysis. Methods: Study subjects included 713 Korean patients with schizophrenia and 497 healthy controls. The Korea Biobank array was used for genotyping. Summary statistics of the most recent genome-wide association study (GWAS) of the European population were used as baseline data to calculate PRS. Logistic regression was conducted to determine the association between calculated PRS of European patients with schizophrenia and clinical diagnosis of schizophrenia in the Korean population. Results: Schizophrenia PRS was significantly higher in patients with schizophrenia than in healthy controls. The PRS at the p-value threshold of 0.5 best explained the variance of schizophrenia (R²=0.028, p=4.4×10^-6). The association was significant after adjusting for age and sex (odds ratio=1.34, 95% confidence interval=1.19-1.51, p=1.1×10^-6). The pattern of the association remained similar across different p-value thresholds (0.01-1). Conclusion: Schizophrenia PRS calculated using the European GWAS data showed a significant association with the clinical diagnosis of schizophrenia in the Korean population. Results suggest overlapping genetic risk variants between the two populations.

• Journal of Nutrition and Health
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• 제57권2호
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• pp.211-227
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• 2024

본 연구에서는 해조류 섭취와 염증과 관련된 유전자의 변이 및 다유전자 위험 점수 간의 상호작용이 염증에 미치는 영향을 확인하였다. 남성과 여성 모두 PRS가 높은 그룹에서 염증 발생 위험은 증가하였다. 본 연구에서는 해조류의 섭취가 염증과 직접적인 관련이 있는 것으로 밝혀지지 않았지만, 해조류 섭취와 다유전자 위험 점수 변이 사이에선 통계적으로 유의한 결과를 보였다. 특히, 낮은 해조류의 섭취는 높은 다유전자 위험 점수를 가진 여성에서 고염증 발생 위험이 높았다. 따라서 본 연구결과는 한국인에게서 작용하는 염증 및 염증질환에 대한 유전자 소인을 파악할 수 있고 면역 체계의 균형 및 건강 유지에 새로운 중재방안을 제시할 수 있음을 기대한다.