Segregation analysis of hepatocellular carcinoma in a moderately high-incidence area of East China

Table 1 HBsAg status of HCC cases among first-degree and second-degree relatives

HBsAg status	First-degree relatives		Second-degree relatives
	No. of relatives	No. (%) of HCC	No. of relatives	No. (%) of HCC
+	130	30 (23.1%)	26	5 (19.2%)
-	1104	47 (4.3%)	711	4 (0.6%)
Unknown	277	23 (8.3%)	208	11 (5.3%)
Total	1511	100 (6.6%)	945	20 (2.1%)

Table 2 Distribution of HCC among the relatives of 210 probands

Characteristic	Relatives
	Father	Mother	Brother	Sister	Son	Daughter	Spouse
No. (%) of HCC	11 (5.5%)	14 (7.0%)	59 (16.1%)	15 (5.0%)	1 (0.5%)	0 (0%)	2 (1.0%)
Total	200	199	366	298	221	227	202

Table 3 Distribution of probands and affected siblings among families

Number of affected siblings	1	2	3	4	4	5
Number of probands in family	1	1	1	1	2	1
Number of families	162	32	7	7	1	1

Table 4 Maximum likelihood estimates of parameters of segregation models for HCC by SEGRANB

π	p	x	Uπ	Up	Ux	χ²π	χ²p	χ²x	¯π	¯p	¯x	P value
0.026556	0.50	0.00	116.922	-929.338	2482.747	1069.75	1074.303	1712.618	9.176	-0.655 98	0.689 81	< 0.05
0.026556	0.25	0.00	50.272	-530.853	230.405	134.657	134.794	144.777	2.705	-0.003 92	0.628 36	< 0.05
0.026556	0.20	0.60	-7.363	50.253	-34.966	4.140	4.069	4.090	-0.536	0.280 97	0.483 03	< 0.05
0.026556	0.280 97	0.483	8.856	-41.824	36.699	3.566	3.806	3.817	0.429	0.189 96	0.587 05	< 0.05
0.026556	0.189 96	0.483	-0.055	0.200	0.464	0.097	0.098	0.09	-0.055	0.200 11	0.463 91	> 0.05
0.026556	0.189 96	0.464	-0.054	0.559	0.007	1.976E-04	3.118E-04	2.146E-07	0.029	0.190 52	0.463 94	> 0.05
0.026556	0.190 52	0.464	0.013	-0.003	0.276	1.097E-05	8.709E-09	3.252E-04	0.027	0.190 52	0.465 08	> 0.05
0.026 6	0.190 52	0.465	-0.054	0.529	0.016	1.909E-04	2.822E-04	1.064E-06	0.030	0.191 06	0.465 07	> 0.05
0.026 6	0.191	0.465	0.005	0.059	0.244	1.517E-06	3.486E-06	2.505E-04	0.027	0.191 06	0.466 03	> 0.05

π, p and x: initially estimated values for π, p and x, respectively. U_π, U_p and U_x: maximum likelihood scores for π, p and x, respectively. χ²_π, χ²_p and χ²_x: χ² of the estimated π, p and x, respectively. π, p, and x: corrected value for ¯π, ¯p and ¯x, respectively.

Table 5 Complex segregation analysis on HCC among the 210 extended pedigrees (SAGE-REGTL, model 1)

Parametera	Hypothesis
	Mendelian			Majorgene	Environmental	Notransmission	General
	Dominant	Recessive	Additive
qA	0.00304	0.11138	0.11451	0.87964	0.02229	0b	0.00861
τAA	1.0b	1.0b	1.0b	1.0b	1.0c	0b	1.0c
τAB	0.5b	0.5b	0.5b	0.5b	1.0c	0b	0.0c
τBB	0b	0b	0b	0b	1.0c	0b	1.0c
βAA	-5.74896	-6.86219	-7.30081	-13.664	-7.27445	-6.74403	-9.22295
βAB	-5.74896d	-14.22974	-14.45292	-22.64140	-4.14230	-6.74403d	-6.19460
βBB	-11.62577	-14.22974d	-21.60502	-6.83546	-9.94049	-6.74403d	-20.47273
α	0.10039	0.12335	0.12867	0.12385	0.07499	0.05710	0.08464
γ	0.72125	1.000c	0.86915	1.000c	0.89922	1.000c	1.000c
ζHBsAg	0.93155	1.36380	1.84008	1.20200	2.72339	2.70874	1.47535
-2lnL	831.07918	799.68716	805.17010	798.20661	822.20467	842.79594	803.24635
AIC	843.07918	811.68716	817.17010	812.20661	838.20467	850.79594	825.24635
χ²	27.83283	3.55919	1.92375	5.03974	18.95832	39.54959
dfe	1-5	2-5	1-5	1-4	2-3	4-7
Pvalue	P < 0.001	P > 0.1	P > 0.1	0.01 < P < 0.03	P < 0.001	P < 0.001

a: See Materials and Methods for definitions of the parameters. b: Parameter was fixed at this value and estimation was not carried out. c: Parameter estimate reached its bound. d: Parameter was constrained to equal the preceding one and was not estimated. e: Range in degrees of freedom was given since parameters in models reached their bounds.