Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis

Table 2 Summary of single nucleotide polymorphisms and allele frequencies

Position	RS Number	Genome Location	Variant	Gene Location	Caucasian Case/Control Frequency	African – American Case/Control Frequency
-992	rs7517566	149116659	C/T	5' Flanking	ND¹	0.138/0.17
7377	rs11204735	149108291	G/A	Intron 1	0.432/0.448	0.164/0.169³
32158	rs2134688	149083510	T/C	Intron 4	0.087/0.086	NP
34242	rs10305679	149081426	T/C	Intron 5	NP	0.194/0.221
38039	rs10305685	149077629	A/G	Intron 6	NP	0.158/0.201
39928	rs10305695	149075740	G/A	Intron 6	0.032/0.041	NP
40155	rs2228099	149075513	G/C	Exon 7 (Val to Val)	ND²	ND²
46017	rs10305710	149069651	G/A	Intron 10	0.041/0.059	NP
47578	rs3738483	149068090	G/A	Intron 12	ND¹	0.322/0.348
48389	rs10305714	149067279	T/C	Intron 12	0.324/0.344	0.265/0.232
49289	rs1889740	149066379	G/A	Intron 12	0.345/0.363	0.481/0.466
50312	rs10305718	149065356	C/G	Intron 13	NP	0.189/0.173
53679	rs10305724	149061989	C/T	Intron 14	0.061/0.041	NP
56428	rs11589458	149059240	T/C	Intron 14	ND	0.22/0.192
65586	rs10305751	149050082	G/A	3'UTR	< 0.05	0.124/0.133
66247	rs10847	149049421	G/A	3'UTR	0.28/0.319	< 0.05
68462	rs4379678	149047206	A/G	3' Flanking/Intron 1 of CTSK	0.087/0.085	NP

Position is given relative to the A of the ATG start site. Genome location is based on the March 2006 (hg18) build. Variant is given for the negative (coding) strand as major/minor allele in Caucasian samples. Frequencies are given for the minor allele in Caucasian and African American samples. NP, not polymorphic in HapMap dataset; ND, not done. ¹ r² = 1 with rs2134688; ², r² = 1 with rs1889740; ³ minor allele is "G" in African Americans.

ISSN: 1471-2350