Genetic variation of NEDD4L is associated with essential hypertension in female Kazakh general population: a case-control study

Table 1 Sequence variations in the promoter region and exons in Nedd4L identified in Kazakh hypertensive patients

SNP name	Region	Amino acid substitution	Allele 1 freq	Allele 2 freq	Flanking sequence	Typing	db SNP ID
-608C>G	promoter		0.9877	0.0123	cgccgcgccg[c/g]gctggaggcc
-548G>A	promoter		0.9813	0.0187	cgcagcccgc[g/a]gcccgctcgc
271420T>C	intron6		0.5989	0.4011	ttgtagtcag[t/c]gtattttcag	Taqman	rs2288774
271454A>G	intron6		0.7692	0.2308	caccacggtg[a/g]agaaggctga	Taqman	rs2288775
296921-296923delTTG	intron13		0.7381	0.2619	ttgcgttg[ttg/---]tttgggtt	Taqman
297071G>A	exon14	R423R	0.9909	0.0091	AGATCCGCCG[G/A]CCTCGTAGCC
312644T>G	intron18		0.9731	0.0269	tcttgtgtat[t/g]actgataacg
312671C>T	intron18		0.9624	0.0376	caagggacaa[c/t]ggtgattgag
325828A>G	intron22		0.9765	0.0235	atcaccgggc[a/g]ctcgtgtctt
340782G>C	intron24		0.9892	0.0108	actccctgtt[g/c]cggagaaagc
351555C>T	exon30	A944A	0.9944	0.0056	TTCTCATGGC[C/T]GTGGAAAATG

Sequence variations were screened in 94 hypertensive patients. Taqman, The single nucleotide polymorphism (SNP) was successfully genotyped by the Taqman method. The A of the ATG of the initiator Met codon is denoted nucleotide +1, as recommended by the Nomenclature Working Group (Hum Mut 1998; 11:1--3). The nucleotide sequence [NCBI: NM-015277] wasused as a reference sequence.

ISSN: 1471-2350