ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

Table 2 Known variations in ABCB4, ABCB11 and ABCG8 found in 35 pediatric subjects with idiopathic gallstones

Patient. ID	Variations in the coding sequence of ABCB4						ABCB11 low expression allele	ABCG8 variation
	c.147C>T	c.175C>T	c.459T>C	c.504C>T	c.711A>T	c.1954A>G	c.1331T>C	c.55G>C
	Ser49Ser	Leu59Leu	Phe153Phe	Asn168Asn	Ile237Ile	Arg652Gly	Val444Ala	Asp19His
	rs8187789	rs2302387	rs2230027	rs1202283	rs2109505	rs2230028	rs2287622	rs11887534
1	CC	CC	TT	TT	AA	AA	CC	GG
2	CC	CC	TT	CT	AA	AA	TC	GG
3	CC	CC	TT	CT	AA	AA	TC	GG
4	CC	CC	TT	CT	AT	AG	TC	GG
5	CC	CC	TT	TT	AA	AA	CC	GG
6	CC	CC	TT	CC	AA	AA	TC	GG
7	CC	CC	TT	CT	AA	AA	TC	GG
8	CC	CC	TT	CC	AA	AG	TC	GG
9	CC	CC	TT	TT	AA	AA	TT	GG
10	CC	CC	TT	TT	AA	AA	CC	GG
11	CC	CC	TT	TT	AA	AA	TC	GG
12	CC	CC	TT	TT	AA	AA	CC	GG
13	CC	CC	TT	CT	AA	AA	TC	GG
14	CC	CC	TT	CC	AA	AA	CC	GG
15	CC	CC	TT	TT	AA	AA	TC	GC
16	CC	CC	TT	CC	AA	AA	TC	GC
17	CC	CC	TT	CC	AA	AA	TC	GG
18	CC	CC	TT	TT	AA	AA	TC	GC
19	CC	CC	TT	CT	AA	AA	TC	GC
20	CC	CC	TT	CT	AA	AA	TT	GG
21	CC	CC	TT	TT	AA	AA	TC	GG
22	CC	CC	TT	CT	AA	AA	TT	GG
23	CC	CC	TT	CT	AA	AA	TT	GG
24	CC	CT	TT	CC	AT	AA	CC	GG
25	CC	CC	TT	CC	AA	AA	TC	GG
26	CT	CT	TC	CC	AA	AG	TC	GG
27	CC	CC	TT	TT	AA	AA	TC	GG
28	CC	CC	TT	TT	AA	AA	TT	GG
29	CC	CC	TT	CT	AA	AA	TT	GG
30	CC	CC	TT	TT	AA	AA	CC	GC
31	CC	CC	TT	CT	AA	AA	TT	GC
32	CC	CC	TT	CT	AA	AA	TT	GG
33	CC	CC	TT	TT	AA	AA	TC	GG
34	CC	CC	TT	CC	AA	AA	TT	GG
35	CC	CC	TT	TT	AA	AA	CC	GG
Allelic frequency of variant alleles in patients with gallstones, HapMap populations and Czech population controls
Allele	T	T	C	T	T	G	C	G
Gallstone patients	0.014	0.029	0.014	0.571	0.029	0.043	0.471	0.086
HapMap CEU	0	0.112	01	0.664	0.175	0.075	0.408	0.085
HapMap HCB	0	0.167	01	0.344	0.222	0.023	0.333	0.022
HapMap JPT	0	0.273	01	0.442	0.300	0.023	0.261	0.011
HapMap YRI	0.042	0.525	0.11	0	0.362	0.392	0.425	0.042
Czech controls (n = 150)	n.d.	n.d.	n.d.	n.d.	n.d.	0.090	0.400	0.0672

¹Results from corresponding populations studied in Environmental Genome Project (NIEHS ES15478 project). HapMap population data were not available for this variation;

²Frequency in 285 Czech controls[15]. n.d.: Not done.