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Table 2 Prevalence of the SNPs in the intron control region of the THRB gene in the NIH RTH cohort

From: An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

SNP ID

Generalized RTH

Pituitary RTH

Odds ratio [CI]

p value

 

Subjects

Sex

Subjects

Sex

  
 

n = 34

16 M

n = 11

8 M

  
  

18 F

 

3 F

  

rs6798561

n

%

n

%

  

Genotype

      

GG

33

97.0

11

100

  

GA

1

3

0

0

n.a

n.a

AA

0

0

0

0

  

rs17194828

n

%

n

%

CC vs. CA plus AA

 

Genotype

      

CC

28

82.3

7

63.6

  

CA

6

17.6

4

36.4

2.7 [0.6 to 12.1]

0.228

AA

0

0

0

0

  

rs2596623

n

%

n

%

CC vs. CT plus TT

 

Genotype

      

CC

13

38.2

3

27.3

  

CT

18

52.9

7

63.6

1.7 [0.4 to 7.4]

0.720

TT

3

8.82

1

9.1

  

rs2596622

n

%

n

%

TT vs. TC plus CC

 

Genotype

      

TT

15

44.1

3

27.3

  

TC

16

47.0

8

72.7

2.1 [0.5 to 9.3]

0.482

CC

3

8.8

0

0

  

rs77624520

n

%

n

%

  

Genotype

      

GG

33

97.0

11

100

  

GC

1

3

0

0

n.a

n.a

CC

0

0

0

0

  
  1. The SNPs are listed according to the location on the chromosome as reported on Ensembl database.