Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution

Table 3

UGT1A1 variants found in all 60 patients with hyperbilirubinemias.

Gene Region	Nucleotide Change	Amino acid Change	rs Number in dbSNP database	No. of alleles	Allele Frequency; (%)	1000g_CHB MAF; (%)	P value
Enhancer
PBREM	-3279 T>G		rs4124874	73	34.3	27.20	2.27E-06
Promoter
	-64 G>C		rs873478	17	7.98	3.40	0.02316
TATA box	A(TA)6TAA>; A(TA)7TAA		rs3064744	52	24.4	12.90	1.05E-17
Exon1
	c.211 G>A	p.Gly71Arg	rs4148323	37	17.4	22.80	0.102251
	c.625 C>T	p.Arg209Trp	rs72551343	2	0.94	0.00	0.052645
	c.686 C>A	p.Pro229Glu	rs35350960	8	3.75	0.50	0.000572
	c.777 C>G	p.Asp259Glu	Novel	1	0.47	NA	NA
	c.802 A>G	p.Ile268Val	Novel	1	0.47	NA	NA
Exon3
	c.1084 G>A; c.1084+1 G>T	p.Gly362Ser	rs755218546; Novel	1; 1	0.47; 0.47	0; NA	0.171234; NA
Exon4
	c.1091 C>T	p.Pro364Leu	rs34946978	9	4.22	2.40	0.018437
Exon5
	c.1387 G>A	p.Glu463Lys	Novel	1	0.47	NA	NA
	c.1456 T>G	p.Tyr486Asp	rs34993780	6	2.82	0	0.000735
	c.1470 C>T	p.Asp490Asp	rs114123636	1	0.47	0.50	0.652817
	c.1471 G>A	p.Val491Met	Novel	1	0.47	NA	NA
	c.1567 C>T	p.Arg522Stop	Novel	2	0.94	NA	NA

dbSNP: database of Single Nucleotide Polymorphism(https://www.ncbi.nlm.nih.gov/SNP/);
1000g_CHB MAF: Minor allele frequency of Han population in Beijing, China in 1000 genomes database(http://www.1000genomes.org).