Matrix Metalloproteinases Polymorphisms as Prognostic Biomarkers in Malignant Pleural Mesothelioma

Table 2

Genotype frequencies of investigated polymorphisms.

Gene	SNP		Genotype	N (%)	Predicted function
MMP2	rs243865	c.-1306C>T	CC	130 (65.3)	May influence binding of transcription factors, may alter chromatin states
			CT	66 (33.2)
			TT	3 (1.5)
	rs243849	c.999C>T, p.Asp333=	CC	140 (70.4)	May influence splicing
			CT	51 (25.6)
			TT	8 (4.0)
	rs7201	c.260A>C	AA	67 (33.7)	Differential miRNA binding may alter regulatory motifs and tissue-specific gene expression
			AC	96 (48.2)
			CC	36 (18.1)
MMP9	rs17576	c.836A>G, p.Gln279Arg	AA	80 (40.6) [2]	Nonsynonymous may change protein function or structure, may influence splicing
			AG	98 (49.7)
			GG	19 (9.6)
	rs2250889	c.1721C>G, p.Arg574Pro	CC	181 (91.0)	Nonsynonymous may influence splicing
			CG	18 (9.0)
			GG	0 (0.0)
	rs17577	c.2003G>A, p.Arg668Gln	GG	141 (71.6) [2]	Nonsynonymous may influence splicing
			GA	53 (26.9)
			AA	3 (1.5)
	rs20544	c.3C>T	CC	37 (18.7) [1]	Differential miRNA binding may alter regulatory motifs and tissue-specific gene expression
			CT	101 (51.0)
			TT	60 (30.3)
MMP14	rs1042703	c.22T>C, p.Pro8Ser	TT	130 (67.0) [5]	Nonsynonymous
			TC	53 (27.3)
			CC	11 (5.7)
	rs1042704	c.817G>A, p.Asp273Asn	GG	135 (67.8)	Nonsynonymous may influence splicing
			GA	54 (27.1)
			AA	10 (5.0)
	rs743257	c.83C>T	CC	50 (25.1)	Differential miRNA binding may alter chromatin states and regulatory motifs
			CT	86 (43.2)
			TT	63 (31.7)

Numbers in square brackets denote the number of patients with missing data. Evaluated using SNP function prediction [22]; HaploReg [23] and GTEx [24].