Disease Markers / 2017 / Article / Tab 2

Research Article

Matrix Metalloproteinases Polymorphisms as Prognostic Biomarkers in Malignant Pleural Mesothelioma

Table 2

Genotype frequencies of investigated polymorphisms.

GeneSNPGenotypeN (%)Predicted function

MMP2rs243865c.-1306C>TCC130 (65.3)May influence binding of transcription factors, may alter chromatin states
CT66 (33.2)
TT3 (1.5)
rs243849c.999C>T, p.Asp333=CC140 (70.4)May influence splicing
CT51 (25.6)
TT8 (4.0)
rs7201c.260A>CAA67 (33.7)Differential miRNA binding may alter regulatory motifs and tissue-specific gene expression
AC96 (48.2)
CC36 (18.1)

MMP9rs17576c.836A>G, p.Gln279ArgAA80 (40.6) [2]Nonsynonymous may change protein function or structure, may influence splicing
AG98 (49.7)
GG19 (9.6)
rs2250889c.1721C>G, p.Arg574ProCC181 (91.0)Nonsynonymous may influence splicing
CG18 (9.0)
GG0 (0.0)
rs17577c.2003G>A, p.Arg668GlnGG141 (71.6) [2]Nonsynonymous may influence splicing
GA53 (26.9)
AA3 (1.5)
rs20544c.3C>TCC37 (18.7) [1]Differential miRNA binding may alter regulatory motifs and tissue-specific gene expression
CT101 (51.0)
TT60 (30.3)

MMP14rs1042703c.22T>C, p.Pro8SerTT130 (67.0) [5]Nonsynonymous
TC53 (27.3)
CC11 (5.7)
rs1042704c.817G>A, p.Asp273AsnGG135 (67.8)Nonsynonymous may influence splicing
GA54 (27.1)
AA10 (5.0)
rs743257c.83C>TCC50 (25.1)Differential miRNA binding may alter chromatin states and regulatory motifs
CT86 (43.2)
TT63 (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].

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