Role of TGF-β Pathway Polymorphisms in Sporadic Thoracic Aortic Aneurysm: rs900 TGF-β2 Is a Marker of Differential Gender Susceptibility
Table 4
Genotype frequencies of TGF-1 and 2 isoform and R1 and R2 receptor gene single nucleotide polymorphisms in patients affected by sporadic TAA and the two groups of controls subjects.
SNPs
Genotypes
TAA patients (%)
Control patients (%)
value
Healthy controls (%)
value
rs1800471 TGF-1 cod25
GG
121 (84.03)
77 (85.56)
0.499
138 (82.14)
0.849
CG
22 (15.28)
11 (12.22)
28 (16.67)
CC
1 (0.69)
2 (2.22)
2 (1.19)
rs900 TGF-2 3′UTR
AA
44 (30.56)
40 (44.44)
0.047
77 (45.84)
0.0059
*
AT
70 (48.61)
36 (40.00)
73 (43.45)
TT
30 (20.83)
14 (15.56)
18 (10.71)
rs334348 TGF-R1 3′UTR
AA
92 (63.89)
56 (62.22)
0.898
106 (63.09)
0.0994
AG
43 (29.86)
27 (30.00)
57 (33.93)
GG
9 (6.25)
7 (7.78)
5 (2.98)
rs334349 TGF-R1 3′UTR
GG
91 (63.20)
55 (61.11)
0.376
112 (66.67)
0.0544
GA
39 (27.08)
30 (33.33)
51 (30.35)
AA
14 (9.72)
5 (5.56)
5 (2.98)
rs4522809 TGF-R2 Intron +3919
CC
36 (25.00)
24 (26.67)
0.959
44 (26.19)
0.1438
CT
65 (45.14)
40 (44.44)
83 (49.41)
TT
43 (29.86)
26 (28.89)
41 (24.40)
The genotype distribution of rs900 TGF-2 3′UTR SNP was significantly different in TAA patients when compared to both control patients and healthy controls. Allele frequencies: TAA patients: 0.549; control patients: 0.644; healthy subjects: 0.676.