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Table 3 End-stage renal disease and albuminuria associations with p.R229Q in different diabetic cohorts

From: NPHS2variation in focal and segmental glomerulosclerosis

 

N = 280

Type I (n = 41)

Type 2 (n = 239)

Total (n = 280)

Utah diabetes study

No ESRD

(n = 171)

21 p.R229R

0 p.R229Q

140 p.R229R

10 p.R229Q

161 p.R229R

10 p.R229Q

 

ESRD

(n = 109)

17 p.R229R

3 p.R229Q

2 3.40, p = 0.07)

82 p.R229R

7 p.R229Q (2%)

2 0.12, p = 0.73)

99 p.R229R

10 p.R229Q (2%)

2 1.11, p = 0.29)

 

N = 1,279

Type I (n = 1,279)

Type 2 -

Total -

GoKinD

No ESRD

(n = 824)

759 p.R229R

65 p.R229Q

-

-

-

-

 

ESRD

(n = 455)

428 p.R229R

p.27 R229Q

2 1.68, p = 0.20)

-

-

-

-

 

N = 429

Type I (n = 67)

Type 2 (n = 357)

Total (n = 429)

Australian endocrine

Normo

(n = 279)

47 p.R229R

4 p.R229Q

206 p.R229R

22 p.R229Q

253 p.R229R

26 p.R229Q

 

Micro

(n = 93)

8 p.R229R

2 p.R229Q

2 1.39, p = 0.24)

77 p.R229R

6 p.R229Q (2%)

2 0.44, p = 0.51)

85 p.R229R

8 p.R229Q (2%)

2 0.04, p = 0.84)

 

Macro

(n = 52)

6 p.R229R

0 p.R229Q

2 0.5, p = 0.48)

42 p.R229R

4 p.R229Q (2%)

2 0.04, p = 0.84)

48 p.R229R

4 p.R229Q (2%)

2 0.14, p = 0.71)

 

Micro- or Macro

(n = 145)

14 p.R229R

2 p.R229Q

2 0.32, p = 0.57)

119 p.R229R

10 p.R229Q (2%)

2 0.36, p = 0.55)

133 p.R229R

12 p.R229Q (2%)

2 0.13, p = 0.72)

  1. The frequency of p.R229Q in patients with type 1 or type 2 diabetes with end-stage renal disease (ESRD) was compared to those without for the Utah diabetes study and Genetics of Kidney Disease in Diabetes (GoKinD) participants. Likewise, the frequency of p.R229Q in patients with microalbuminuria (Micro) or macroalbuminuria (Macro) was compared with the frequency of normoalbuminuria (Normo) in patients with type 1 or type 2 diabetes in the Australian endocrine patients. No associations were found.