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Egyptian Journal of Medical Human Genetics

Table 3 Association analysis of BAFF single nucleotide polymorphisms (rs9514827 and rs9514828) with Graves' disease

From: B-lymphocyte-activating factor is a potential biomarker associated with susceptibility to Graves’ disease in Iraqi women

BAFF SNP/genetic model

Allele/genotype/haplotype

GD; n = 90

CTRL; n = 70

OR (95% CI)

p value (pc)

n

%

n

%

rs9514827 T > C

Allele

T

120

66.7

112

80.0

Reference; 1.0

 

C

60

33.3

28

20.0

2.00 (1.19–3.35)

0.008 (0.048)

Recessive

TT + TC

78

86.7

67

95.7

Reference; 1.0

 

CC

12

13.3

3

4.3

3.44 (0.94–12.58)

0.059 (0.354)

Dominant

TT

42

46.7

45

64.3

Reference; 1.0

 

TC + CC

48

53.3

25

35.7

2.06 (1.09–3.89)

0.037 (0.222)

Over-dominant

TT + CC

54

60.0

48

68.6

Reference; 1.0

 

TC

36

40.0

22

31.4

1.45 (0.76–2.80)

0.32 (1.0)

Co-dominant

TT

42

46.7

45

64.3

Reference; 1.0

 

TC

36

40.0

22

31.4

1.75 (0.89–3.45)

0.104 (0.624)

CC

12

13.3

3

4.3

4.29 (1.13–16.26)

0.032 (0.192)

p-HWE

  

0.881

    

rs9514828 C > T

Allele

C

100

55.6

102

72.9

Reference; 1.0

 

T

80

44.4

38

27.1

2.15 (1.34–3.45)

0.002 (0.012)

Recessive

CC + CT

64

71.1

64

91.4

Reference; 1.0

 

TT

26

28.9

6

8.6

4.33 (1.68–11.16)

0.001 (0.006)

Dominant

CC

36

40.0

38

54.3

Reference; 1.0

 

CT + TT

54

60.0

32

45.7

1.78 (0.95–3.34)

0.081 (0.486)

Over-dominant

CC + TT

62

68.9

44

62.9

Reference; 1.0

 

CT

28

31.1

26

37.1

0.76 (0.40–1.47)

0.501 (1.0)

Co-dominant

CC

36

40.0

38

54.3

Reference; 1.0

 

CT

28

31.1

26

37.1

1.14 (0.56–2.29)

0.72 (1.0)

TT

26

28.9

6

8.6

4.57 (1.69–12.41)

0.003 (0.018)

p-HWE

   

0.61

   

Two-locus haplotype (rs9514827- rs9514828)

C–C

27.7

15.4

17.5

12.5

1.27 (0.67–2.42)

0.465 (1.0)

 

C-T

32.3

17.9

10.5

7.5

2.71 (1.30–5.65)

0.006 (0.024)

 

T-C

72.3

40.2

84.5

60.3

0.44 (0.28–0.69)

< 0.001 (0.001)

 

T-T

47.7

26.5

27.5

19.7

1.47 (0.87–2.51)

0.153 (0.612)

  1. BAFF B-lymphocyte-activating factor, SNP single nucleotide polymorphism, HWE Hardy–Weinberg equilibrium, GD Graves' disease, CTRL controls, Odds ratio, CI Confidence interval, p two-tailed probability, pc: Bonferroni corrected probability (significant p value is indicated in bold)
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