Single-nucleotide polymorphisms based genetic risk score in the prediction of pancreatic cancer risk

Table 1 Information of single nucleotide polymorphisms for calculating genetic risk score

Chromosome	SNP	Region	Related-gene	Previous GWAS study
				OP1	RA	OR	RAF
1	rs10919791	1q32.1	NR5A2	EU	A	0.77	0.19
5	rs2736098	5p15.33	TERT, CLPTM1L	EU	T	0.8	NA1
5	rs401681	5p15.33	CLPTM1L	EU	T	1.19	0.49
5	rs2255280	5p13.1	DAB2	CH	G	0.81	0.32
6	rs2317900	6p25.3	FOXQ1	JA	C	1.288	0.41
7	rs6971499	7q32.3	LINC-PINT	EU	C	0.79	NA1
7	rs7779540	7q36.2	DPP6	JA	A	3.69	0.17
7	rs167020	7q36.3	SHH	EU	A	1.17	0.3
8	rs1561927	8q24.21	MIR1208, PVT1	EU	C	0.87	NA1
9	rs2073828	9q34.2	ABO	EU	A	0.85	0.37
9	rs505922	9q34.2	ABO	EU	C	1.2	0.35
10	rs12413624	10q26.11	PRLHR	CH	T	1.23	0.42
12	rs792864	12p11.21	BICD1	JA	A	0.71	0.24
13	rs9581943	13q12.2	PDX1	EU	A	1.46	NA1
13	rs4885093	13q22.1	NA	CH	C	1.25	0.5
13	rs9543325	13q22.1	NA	EU	C	1.26	0.37
16	rs7190458	16q23.1	BCAR1, CTRB1, CTRB2	EU	A	1.46	NA1
21	rs372883	21q21.3	BACH1	CH	C	0.79	0.39
21	rs1547374	21q22.3	TFF1	CH	G	0.79	0.4
22	rs16986825	22q12.1	ZNRF3	EU	T	1.18	NA1
22	rs5768709	22q13.32	FAM19A5	CH	G	1.25	0.28

¹Not available. These loci were not included in the final calculation of genetic risk score. OP: Original genome-wide association study population; RA: Risk allele; OR: Odds ratio from genome-wide association studies; RAF: Risk allele frequency in our study; EU: European; JA: Japanese; CH: Chinese; GWAS: Genome-wide association studies.

Table 2 Characteristics of study population

Variables		Case, n = 254		Control, n = 1200		P value
Sex		n	%	n	%
	Male	156	64.42	748	62.23	0.831
	Female	98	38.58	452	37.67
Age at diagnosis, mean ± SD		63.31	10.01	48.80	15.49	0.00012
GRS, mean ± SD		1.96	3.84	1.09	0.94	< 0.00013
GRS: < 1		127	50.00	723	60.25	0.0021
GRS: 1-2		91	35.83	374	31.17
GRS: > 2		36	14.17	103	8.58
< 10th P		19	7.48	127	10.58	0.0071
10th-50th P		87	34.25	494	41.17
50th-90th P		111	43.70	471	39.25
90th P		37	14.57	108	9.00

¹Chi-square.

²t-test.

³Genetic risk score log transformed for t-test. GRS: Genetic risk score.

Table 3 Univariate/multivariate logistic regression results

Univariate logistic regression		OR (95%CI)	P value
	GRS	1.23 (1.13-1.34)	< 0.0001
Multivariate logistic regression		OR (95%CI)	P value
	GRS	1.36 (1.06-1.74)	0.015
	Age at diagnosis/enrollment	1.14 (1.12-1.17)	< 0.0001
	Sex	0.84 (0.61-1.16)	0.28
Subgroup analysis1		OR (95%CI)	P value
	GRS: < 1 (Ref)2	-	-
	GRS: 1-2	1.39 (1.03-1.84)	0.031
	GRS: > 2	1.99 (1.30-3.04)	0.002
	< 10th P (Ref)3	-	-
	10th-50th P	1.18 (0.69-2.01)	0.548
	50th-90th P	1.57 (0.93-2.66)	0.089
	> 90th P	2.29 (1.25-4.21)	0.007

¹Univariate mode.

²P trend = 0.0006.

³P trend = 0.0008. OR: Odds ratio; CI: Confidence interval; GRS: Genetic risk score.