UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population

Table 1

UGT1A1 (NM_000463) variants identified in cases and controls.

Number	Nucleotide change	Amino acid change	SNP 142	Type of variant	MAF dbSNP138	Cases (individual/allele/MAF)	Controls (individual/allele/MAF)	OR	95% CI	value
(1)	c.141C>T	p.Ile47=	rs34526305	Silence	0.0010	1/1/0.0043	-	-	-	-
(2)	c.211G>A	p.Gly71Arg	rs4148323	Missense	0.0343	16/16/0.068	11/11/0.047	1.47	0.67–3.25	0.33
(3)	c.686C>A	p.Pro229Gln^#	rs35350960	Missense	0.0028	11/11/0.047	6/7/0.030	1.59	0.60–4.16	0.35
(4)	c.1091C>T	p.Pro364Leu	rs34946978	Missense	0.0022	2/2/0.0086	-	-	-	-
(5)	c.1456T>G	p.Tyr486Asp	rs34993780	Missense	0.0008	1/1/0.0043	-	-	-	-
(6)	c.1459C>T	p.His487Tyr	rs371183955	Missense	0.0004	2/2/0.0086	1/1/0.0043	-	-	-
(7)	c.1352C>T	p.Pro451Leu	rs114982090	Missense	0.0014	1/1/0.0043	-	-	-	-
(8)	c.237C>G	p.Arg336Trp	rs139607673	Missense	NA	1/1/0.0043	-	-	-	-
(9)	c.899A>G	p.His300Arg^∗	NA	Missense	NA	1/1/0.0043	-	-	-	-
(10)	c.181G>A	p.Ala61Thr^∗	NA	Missense	NA	1/1/0.0043	-	-	-	-
(11)	c.1221G>T	p.Lys407Asn^∗	NA	Missense	NA	1/1/0.0043	-	-	-	-
(12)	c.1540T>A	p.Tyr514Asn^∗	NA	Missense	NA	1/1/0.0043	-	-	-	-
(13)	c.237C>G	p.Tyr79X^∗	NA	Stop-gain	NA	-	1/1/0.0043	-	-	-
(14)	c.1037C>T	p.Ala346Val^∗	NA	Missense	NA	-	1/1/0.0043	-	-	-
(15)	c.1234A>T	p.Thr412Ser^∗	NA	Missense	NA	-	1/1/0.0043	-	-	-
Total Individual						39	21

as common variant in Deutromalay population. variant. NA: not available.