Associations between genetic variations in the FURIN gene and hypertension

BMC Medical Genetics

Table 2 Sequence variations in the promoter region and exons in Furin identified in Kazakhs hypertensive patients

SNP name	LD	Region	Aminoacid substitution	Allele 1 freq	Allele 2 freq	Flanking sequence	Typing	db SNP ID
-7393C > G		promoter		0.9884	0.0116	acacaaggag[c/g]tggagctggc
-7315C > A	a	promoter		0.7733	0.2267	aagtgcagac[c/a]caccccaata	TaqMan	rs4932178
-7048T > C		5'-UTR		0.9942	0.0057	tcccaggtgc[t/c]ctggagctgg
1970C > G	b	intron7		0.8046	0.1954	gccactttcc[c/g]actgtggatc	TaqMan	rs2071410
2000G > C		intron7		0.9942	0.0058	gaaagagctg[g/c]acccctgtgg
2003T > C	b	intron7		0.8081	0.1919	ggctgttcca[t/c]ggagggttcc		rs1573643
2589C > T		intron8		0.9945	0.0055	tgtccagccc[c/t]tgcgggcagg
4369G > T		exon13	R464R	0.9940	0.0060	tcgggaaacg[g/t]ctcgaggtgc		rs6225
4393C > T		exon13	T472T	0.9759	0.0241	agaccgtgac[c/t]gcgtgcctgg
4573G > T	a	intron13		0.7590	0.2410	cagcgccgcc[g/t]cctctcacag		rs6224
5604G > C		exon16	G617G	0.4048	0.5952	gccctccagg[g/c]ttcgcccccc	TaqMan	rs6226
6123C > T		exon16	D770D	0.9943	0.0057	ttatcaaaga[c/t]cagagcgccc
6262C > T	a	3'-UTR		0.7989	0.2011	gtggagactg[c/t]ttcccatcct	TaqMan	rs6227
6563G > T		3'-UTR		0.9943	0.0057	tgagggagga[g/t]gccacctctc
6624C > T		3'-UTR		0.9886	0.0114	tgagtcttgg[c/t]ggcagcagcc
6728C > T		3'-UTR		0.9943	0.0057	ccctgtgctc[c/t]gtgcctccac

The apparent linkage disequilibrium (LD), defined by r-square more than 0.5, was indicated by a-b in the LD column. Taqman, The single nucleotide polymorphism (SNP) was successfully genotyped by the Taqman method. UTR, Untranslated region. 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 (GenBank Accession ID: NT-010274) was used as a reference sequence.

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