Research Article

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.

SNPsGenotypesTAA patients
(%)
Control patients
(%)
valueHealthy controls
(%)
value

rs1800471
TGF- 1 cod25
GG121 (84.03)77 (85.56)0.499138 (82.14)0.849
CG22 (15.28)11 (12.22)28 (16.67)
CC1 (0.69)2 (2.22)2 (1.19)

rs900
TGF- 2 3′UTR
AA44 (30.56)40 (44.44)0.04777 (45.84)0.0059 *
AT70 (48.61)36 (40.00)73 (43.45)
TT30 (20.83)14 (15.56)18 (10.71)

rs334348
TGF- R1 3′UTR
AA92 (63.89)56 (62.22)0.898106 (63.09)0.0994
AG43 (29.86)27 (30.00)57 (33.93)
GG9 (6.25)7 (7.78)5 (2.98)

rs334349
TGF- R1 3′UTR
GG91 (63.20)55 (61.11)0.376112 (66.67)0.0544
GA39 (27.08)30 (33.33)51 (30.35)
AA14 (9.72)5 (5.56) 5 (2.98)

rs4522809
TGF- R2 Intron +3919
CC36 (25.00)24 (26.67)0.95944 (26.19)0.1438
CT65 (45.14)40 (44.44)83 (49.41)
TT43 (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.