HIF1A (rs11549465) and AKNA (rs10817595) Gene Polymorphisms Are Associated with Primary Sjögren’s Syndrome
Table 2
Genotype and allele frequency by study group of HIF1A and AKNA polymorphisms.
Polymorphism
Frequency (%)
value
Total study population ()
Controls ()
Primary Sjögren’s syndrome ()
HIF1A Pro582Ser (rs11549465)
C/C
188 (78.0)
94 (69.6)
94 (88.7)
<0.01
C/T
53 (22.0)
41 (30.4)
12 (11.3)
T/T
0
0
0
Alleles
C
429 (89.0)
229 (84.8)
200 (94.3)
<0.01
T
53 (11.0)
41 (15.2)
12 (5.70)
HWE value
0.09
0.04
0.99
HIF1A Ala588Thr (rs11549467)
G/G
198 (99.5)
90 (98.9)
108 (100.0)
0.46
G/A
1 (0.5)
1 (1.10)
0
A/A
0
0
0
Alleles
G
397 (99.8)
181 (99.4)
216 (100.0)
0.46
A
1 (0.25)
1 (0.60)
0
HWE value
0.99
0.99
—
HIF1A C191T (rs2057482)
T/T
190 (83.0)
96 (80.7)
94 (85.4)
0.38
T/C
39 (17.0)
23 (19.3)
16 (14.6)
C/C
0
0
0
Alleles
T
419 (91.5)
215 (90.3)
204 (92.7)
0.40
C
39 (8.52)
23 (9.7)
16 (7.27)
HWE value
0.38
0.60
0.99
AKNA −1372 C>A (rs10817595)
C/C
72 (29.2)
41 (29.1)
31 (29.2)
0.11
C/A
137 (55.5)
84 (59.6)
53 (50.0)
A/A
38 (15.4)
16 (11.3)
22 (20.8)
Inheritance models
C/A + A/A
175 (70.85)
100 (70.9)
75 (70.8)
0.54
A/A
38 (15.4)
16 (11.3)
22 (20.8)
0.03
Alleles
C
281 (56.9)
166 (58.9)
115 (54.2)
0.18
A
213 (43.1)
116 (41.1)
97 (45.8)
HWE value
0.05
0.01
0.99
AKNA Pro624Leu (rs3748176)
G/G
69 (28.1)
39 (28.1)
30 (28.3)
0.56
G/A
132 (53.9)
78 (56.1)
54 (50.9)
A/A
44 (18.0)
22 (20.8)
22 (20.8)
Inheritance models
G/A + A/A
176 (71.8)
100 (71.9)
76 (71.7)
0.54
A/A
44 (18.0)
22 (20.8)
22 (20.8)
0.20
Alleles
G
270 (55.1)
156 (56.1)
114 (53.8)
0.34
A
220 (44.9)
122 (43.9)
98 (46.2)
HWE value
0.20
0.12
0.85
HWE: Hardy Weinberg Equilibrium. Recessive inheritance model; the reference group is formed by C/A and C/C genotype carriers or G/A and G/G genotype carriers for each AKNA polymorphism, respectively. Fisher’s exact test value.
