Polymorphisms in programmed death-1 gene are not associated with chronic HBV infection in Chinese patients

Table 1 The associations between PD-1 genotype and chronic HBV infection by family-based association test

Marker	Genotype	Frequency	Familya	S	E(S)	Var(S)	Zb	P
PD-1.1	A/A	0.166	46	30	29.311	12.718	0.193	0.847
	A/G	0.637	72	47	49.794	20.122	-0.623	0.533
	G/G	0.197	42	30	27.895	11.630	0.617	0.537
PD-1.2	A/A	0.228	53	38	34.228	14.206	1.001	0.317
	A/G	0.598	78	50	54.044	21.696	-0.868	0.385
	G/G	0.174	41	27	26.728	11.593	0.080	0.936

^aNumber of nuclear families informative for that allele; S is the test statistic; E(S) and Var(S) are the expected value and variance of the test statistic, respectively; ^bThe negative sign of Z statistic indicates that the frequency of transmitted genotype is negative association with susceptibility of chronic HBV infection. PD-1: pro­grammed death-1; HBV: hepatitis B virus.

Table 2 The associations between PD-1 gene polymorphism and chronic HBV infection by family-based association test (single-marker FBAT analysis) in additive or dominant or recessive model

Marker	Allele	Additive model			Dominant model			Recessive model
		Familiesa	Zb	P	Familiesa	Zb	P	Familiesa	Zb	P
PD1.1	A	72	-0.265	0.791	42	-0.617	0.537	46	0.193	0.847
	G	72	0.265	0.791	46	-0.193	0.847	42	0.617	0.537
PD1.2	A	79	0.640	0.522	41	-0.080	0.936	53	1.001	0.317
	G	79	-0.640	0.522	53	-1.001	0.317	41	0.080	0.936

^aInformative families: families may have two heterozygote parents or multiple offspring. When the number of informative families is less than 10, the test will not be computed; ^bThe negative sign of Z statistic indicates that the frequency of transmitted allele is negative association with susceptibility of chronic HBV infection. PD-1: pro­grammed death-1; HBV: hepatitis B virus.

Table 3 TDT of association with HBV infection-affection status in 539 trios selected from the HBV infectious nuclear families

SNP	Frequency	Allele	Trio TDT (n probands with allele)
			Transmitted	Not transmitted	P
PD1.1	0.484	A	26	30	0.689
	0.516	G	30	26	0.689
PD1.2	0.527	A	32	33	1.000
	0.473	G	33	32	1.000

The TDT analysis revealed no increased transmission for the major alleles to HBV infection offspring. TDT: transmission/disequilibrium test; HBV: hepatitis B virus.

Table 4 The associations between PD-1 haplotypes and chronic HBV infection by family-based association test

Haplotype	Additive model			Dominant model			Recessive model
PD-1.1/1.2	Familiesa	Zb	P	Familiesa	Zb	P	Familiesa	Zb	P
A/A	70.8	0.306	0.760	48.8	-0.692	0.489	35	1.243	0.214
G/G	66.5	0.001	0.999	45.5	-0.188	0.851	32	0.207	0.836
G/A	20.2	0.270	0.787	19.2	0.330	0.741	-	-	-
A/G	14.5	-1.090	0.276	14.5	-1.090	0.276	-	-	-

^aThe number of informative families. When the number of informative families is less than 10, the test will not be computed; ^bThe negative sign of Z statistic indicates that the frequency of transmitted haplotype is negative association with susceptibility of chronic HBV infection. PD-1: pro­grammed death-1; HBV: hepatitis B virus.