Polymorphism of MMP-3 gene and imbalance expression of MMP-3 / TIMP-1 in articular cartilage are associated with an endemic osteochondropathy, Kashin- Beck disease

Table 1 The loci information of the eight SNPs in MMP-3

SNPs	Alleles ^a	SNP location	MAF ^b (%)	Minor allele frequency (%)			HWE ^c test(P)
SNPs	Alleles ^a	SNP location	MAF ^b (%)	KBD	Controls	P	HWE ^c test(P)
rs650108	A/G	Intron	0.39	41.97	39.91	0.51	1.00
rs520540	G/A	Coding exon	0.31	33.94	30.04	0.18	0.76
rs591058	C/T	N/A	0.30	33.94	30.04	0.18	0.65
rs679620	C/T	Coding exon	0.31	33.03	30.04	0.29	0.29
rs602128	G/A	Coding exon	0.31	33.94	30.04	0.18	1.00
rs639752	A/C	Intron	0.29	33.94	30.04	0.18	0.65
rs678815	C/G	Intron	0.31	33.94	30.04	0.18	0.76
rs646910	T/A	Intron	0.07	8.03	9.07	0.55	1.00

^a Stands for the major/minor alleles; ^b minor allele frequencies; ^c Hardy-Weinberg Equilibrium

ISSN: 1471-2474