In-vitro characterization of novel and functional regulatory SNPs in the promoter region of IL2 and IL2R alpha in a Gabonese population

Table 1 Genetic variants identified in the promoter regions of the IL2 gene locus

SNP (rs#)	Position	Polym orphism	Flanking sequences	Genotype	Analysed individuals	Allele	Frequency^a	Frequencies (Hapmap YRI, CEU, CHB)^b
ss410961576	−83,84	CT deleted	ATTTT [CT/-] GAGTT	CT/CT	39	CT	0.975	NA
				del/del	1	del	0.025
rs2069762	−100	T>G	TTTTA[T/G] GACAA	TT	38	T	0.950	0.034, 0.232, 0.267
				TG	2	G	0.050
rs2067006	−191	T>A	TGTTT[T/A] ATCAA	AT	0	T	0.000	0.000, 0.000, 0.000
				AA	40	A	1.000	1.000, 1.000, 1.000

^aFrequency corresponds for both allele and genotypes; b: YRI: Yoruba population representing Sub- Saharan African individual group, CEU: European, CHB: Han Chinese; NA: data not available.

ISSN: 1471-2350