Evaluation of polygenic risk score for risk prediction of gastric cancer

Table 2 Development and evaluation of Polygenetic risk scores for predicting gastric cancer

Ref.	No. of SNPs included	SNP selection	PRS and related methods used to calculate it	AUC or OR (95%CI) of model with PRS	AUC or OR (95%CI) of model with PRS and Clinical risk factors	Difference	Clinical risk factors included
Mao et al[19], 2017	37	Significance level and linkage disequilibrium	Weighted PRS using weights derived from the same study	OR for the highest quartile respect to the lower quartile: 1.14 (1.01-1.29)	-	-	-
Choi et al[20], 2020	3	Significance level	Weighted PRS using weights derived from literature	AUC: 0.56 (0.53- 0.60); HR for the highest quintiles respect to the lower quintiles: 1.75 (1.18-2.59)	-	-	-
Jin et al[21], 2020	112	Significance level	Weighted PRS using weights derived from the same study	HR for the highest quintiles respect to the lower quintiles: 2.08 (1.61-2.69)	HR for participants with a high genetic risk and an unfavorable lifestyle respect to those with a low genetic risk and a favorable lifestyle 5.14 (2.04–12.93)	-	Smoking, alcohol consumption, consumption of preserved foods, intake of fresh fruit and vegetables
Qiu et al[22], 2020	6	Significance level and validated to be associated with gastric cancer risk	Weighted PRS using weights derived from the same study	AUC 0.653	AUC 0.684	0.031	BMI
Wang et al[23], 2020	15	Significance level	Weighted PRS using weights derived from literature	OR for the highest quartile respect to the lower quartile: 1.19 (1.04–1.37)	-	-	-
Duan et al[24], 2021	21	Prediction functions through bioinformatics tools	Weighted PRS using weights derived from the same study	AUC 0.737 (0.71-0.76); OR for the highest 10% respect to the 40-60%: 5.75 (3.09-10.70)	AUC for PRS + Hp infection: 0.752 (0.690-0.814); AUC for PRS + family history of tumor: 0.773 (0.702-0.843)	PRS + Hp infection: 0.014; PRS + family history of tumor: 0.036	Hp infection, family history, smoking, alcohol consumption
Ishikura et al[25], 2021	3	Significance level	Weighted PRS using weights derived from the same study	AUC for training set: 0.6287 (0.6039–0.6530); AUC for validation set: 0.5673 (0.5391–0.5960)	AUC for training set: 0.7677 (0.7465–0.7890); AUC for validation set: 0.7823 (0.7694–0.8140)	Training set: 0.139; validation set: 0.215	Smoking, alcohol consumption, fruit and vegetable intake, and ABCD classification
Park et al[26], 2021	6	Significance level	Weighted PRS using weights derived from literature	AUC: 0.565 (0.535–0.596); OR for the highest tertile respect to the lower tertile: 2.03 (1.51–2.72)	AUC: 0.607 (0.576–0.638); OR for the highest tertile respect to the lower tertile: 2.53 (1.92–3.34)	0.042	A sex-specific prediction model

SNP: Single nucleotide polymorphism; PRS: Polygenic risk score; AUC: Area under the curve; OR: Odds ratio; HR: Hazard ratio; CI: Confidence interval; BMI: Body mass index; Hp: Helicobacter pylori; ABCD classification: Helicobacter pylori infection-related factor.