Functional Analysis of Thyroid Peroxidase Gene Mutations Detected in Patients with Thyroid Dyshormonogenesis
Table 4
Allele and Genotype distribution of TPO gene polymorphisms in the study.
SNP
Allele
Allele frequency
Odds ratio (95% CI)
value
Genotype
Case ()
Control ()
Odds ratio (95% CI)
value
Case
Control
c. 1117 G>T
G
0.54
0.59
1.23 (0.93–1.62)
0.17
GG
34%
35%
Reference
Ala 373 Ser
T
0.46
0.41
GT
40%
48.5%
GG versus GT: 0.85 (0.54–1.33)
0.54
TT
26%
16.5%
GG versus TT: 1.62 (0.94–2.81)
0.11
GG + GT versus TT: 1.78 (1.09–2.90)
0.028
c. 1193G>C
C
0.73
0.68
0.79 (0.58–1.07)
0.14
CC
57.5%
49%
Reference
Ser 398 Thr
G
0.27
0.32
GC
30.5%
37.5%
CC versus GC: 0.69 (0.45–1.07)
0.12
GG
12%
13.5%
CC versus GG: 0.76 (0.41–1.40)
0.46
c.1858 G>A
G
0.90
0.96
2.67 (1.47–4.85)
0.001
GG
85.0%
93.0%
Reference
Asp 620 Asn
A
0.10
0.04
GA
10.5%
6.50%
GG versus GA: 1.77 (0.86–3.64)
0.11
AA
4.5%
0.50%
GG versus AA: 9.85 (1.23–78.54)
0.008
GG versus GA + AA: 2.34 (1.20–4.57)
0.011
c. 1921 G>A
G
0.87
0.94
2.34 (1.41–3.88)
0.001
GG
77.5%
89%
Reference
Glu 641 Lys
A
0.13
0.06
GA
18.5%
11%
GG versus GA: 1.93 (1.09–3.41)
0.022
AA
4.0%
0.0%
GG versus GA + AA: 2.35 (1.35–4.09)
0.002
c. 2002 G>A
G
0.93
0.94
1.18 (0.67–2.07)
0.56
GG
86.5%
88.5%
Reference
Asp 668 Asn
A
0.07
0.06
GA
12.5%
11.5%
GG versus GA: 1.11 (0.61–2.03)
0.73
AA
1.0%
0.0%
c. 2173 A>C
A
0.54
0.63
1.45 (1.09–1.92)
0.01
AA
35%
41.0%
Reference
Thr 725 Pro
C
0.46
0.37
AC
37.5%
44.0%
AA versus AC: 1.00 (0.64–1.56)
0.99
CC
27.5%
15.0%
AA versus CC: 2.15 (1.24–3.71)
0.006
AA + AC versus CC: 2.15 (1.31–3.53)
0.002
Chi-square test was used to compare the genotype and allele frequencies between cases and controls. value < 0.05 is considered to be statistically significant.
