Effects of variant UDP-glucuronosyltransferase 1A1 gene, glucose-6-phosphate dehydrogenase deficiency and thalassemia on cholelithiasis

Table 1 Fifteen single nucleotide mutations of G6PD deficiency in Taiwan Chinese

Mutation site	Restrictionenzyme	Restriction fragment (bp)
		Normal	Mutant
1 376 G→T	AfII	214	194, 20
1 388 G→A	NdeI	227	206, 21
493 A→G	AvaII	120, 11	87, 33, 11
1 024 C→T	MboII	187	150, 37
95 A→G	MluI	198	174, 24
392 G→T	BstEII	188, 15	203
871 G→A	BgIII	118	94, 24
487 G→A	HindIII	104	82, 22
519 C→G	StyI	300	189, 111
835 A→T	TaqI	185	164, 21
1 360 C→T	HhaI	142, 45, 27	187, 27
592 C→T	PstI	157, 83	157, 63, 20
517 T→C	XhoI	134	114, 20
1 004 C→A	HhaI	49, 20	69
1 387 C→T	HhaI	105, 22	127

Table 2 Variations of the UGT1A1 gene

Variation site	Restrictionenzyme	Restriction fragment (bp)
		Normal	Variant
211 G→A	AvaII	128, 18	146
686 C→A	BsrI	374, 51	242, 132, 51
1 091 C→T	BclI	209	190, 19
1 456 T→G	AvaII	270	197, 73
Promoter		77	79

Table 3 Comparison of clinical data for cholelithiasis patients and healthy controls

	Cholelithiasis patients (n = 372)		Control group (n = 293)		P (χ2 test )(for age by student’s t test)
	n	%	n	%
Gender (M/F)	157/215		135/158		NS
Age (yr, mean±SD)	53.0±14.9		51.5±10.6		NS
UGT1A1 genotype
Wild type	180	48.4	143	48.8	NS
Heterozygous variation in promoter area (6/7)	60	16.1	60	20.5	NS
Heterozygous variation within
coding region	96	25.8	64	21.8	NS
211 G→A/normal	89		57
1 091 C→T/normal	6		7
1 456 T→G/normal	1
Compound heterozygous variation	20	5.4	23	7.9	NS
6/7, 211 G→A/normal	10		4
6/7, 686 C→A/normal	8		14
6/7, 1 091 C→T/normal			1
6/7, 211 G→A/normal, 686 C→A/ normal			1
6/7, 686 C→A/normal, 1 091 C→T/normal	1		1
211 G→A/normal, 1 091 C→T/ normal	1		1
Homozygous variation	16	4.3	3	1	0.012
7/7	5
211 G→A /G→A	4		3
7/7, 686 C→A /normal	7		0
G6PD deficiency	10	2.7	7	2.4	NS
Thalassemia	19	5.1	15	5.1	NS

6/7: A(TA)₆TAA/A(TA)₇TAA, 7/7: A(TA)₇TAA/A(TA)₇TAA in the promoter area of UGT1A1 gene.