Table IV.

Distribution of six mutations, and the association between the mutations and PIS.

Mutation	Amino acid change	Genotype	Controls (%) n=560	Cases (%) n=443	Adjusted OR (95% CI)	P-value	P-value for HWE in control
s3815675	Synonymous	TT	280 (50.0)	218 (49.2)	Ref.	Ref.	0.308
		TC	227 (40.5)	179 (40.4)	0.98 (0.73–1.30)	0.877
		CC	53 (9.5)	46 (10.4)	1.15 (0.72–1.83)	0.569
		TC+TT	507 (90.5)	397 (89.6)	0.86 (0.55–1.36)	0.524
rs2287616	Synonymous	TT	277 (49.4)	210 (47.4)	Ref.	Ref.	0.545
		TC	225 (40.2)	186 (42.0)	1.06 (0.79–1.41)	0.694
		CC	58 (10.4)	47 (10.6)	1.08 (0.69–1.72)	0.715
		TC+TT	502 (89.6)	396 (89.4)	0.94 (0.61–1.46)	0.793
rs2287617	R299k	GG	555 (99.1)	440 (99.3)	Ref.	Ref.	0.943
		GA	5 (0.9)	3 (0.7)	0.65 (0.14–3.06)	0.582
		AA	0 (0.0)	0 (0.0)	NA	NA
		GA+AA	5 (0.9)	3 (0.7)	0.65 (0.14–3.06)	0.582
rs2287622	V444A	TT	50 (8.9)	39 (8.8)	Ref.	Ref.	0.886
		TC	237 (42.3)	187 (42.2)	0.91 (0.55–1.51)	0.709
		CC	273 (48.8)	217 (49.0)	0.92 (0.56–1.52)	0.750
		TC+TT	287 (51.2)	226 (51.0)	1.00 (0.76–1.31)	0.992
rs118109635	A865V	CC	551 (98.4)	423 (95.5)	Ref.	Ref.	0.627
		CT	9 (1.6)	20 (4.5)	2.67 (1.13–6.31)	0.025
		TT	0 (0.0)	0 (0.0)	NA	NA
		CT+TT	9 (1.6)	20 (4.5)	2.67 (1.13–6.31)	0.025
rs497692	Synonymous	AA	106 (18.9)	55 (12.4)	Ref.	Ref.	0.549
		AG	249 (44.5)	194 (43.8)	1.44 (0.96–2.17)	0.079
		GG	205 (36.6)	194 (43.8)	1.79 (1.18–2.70)	0.006
		AG+GG	454 (81.1)	388 (87.6)	1.60 (1.08–2.34)	0.017

CI, confidence interval; HWE, HardyWeinberg Equilibrium; NA, not available; OR, odds ratio; PIS, primary intrahepatic stones; Ref., reference.