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Table 4 Urinary ALA and PBG excretion according to genotype

From: High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

Gene

Genotype

U-PBG/Cr

U-ALA/Cr

mean (SE)

beta (CI 95%)

P value

mean (SE)

beta (CI 95%)

P value

CYP2C9

two normal alleles

12.93 (3.36)

−3.82 (−9.25;-1.62)

0.163

8.48 (1.30)

−1.26 (−8.07;5.55)

0.711

one allele *2 or *3

5.62 (1.88)

12.85 (6.67)

two alleles *2 or *3

1.87 (0.80)

4.98 (0.71)

CYP2C19

two normal alleles

9.12 (2.34)

−1.84 (− 10.11; 6.43)

0.655

10.58 (3.01)

−3.96 (− 14.03;6.11)

0.432

one allele *2

9.32 (4.27)

6.39 (1.30)

two alleles *2

NA

NA

CYP2D6

two normal alleles

10.71 (2.63)

−0.67 (−8.60; 7.27)

0.866

10.45 (2.94)

−3.69 (−13.34;5.96)

0.444

one allele *4 or *5

5.34 (2.38)

5.93 (1.05)

two alleles *4 or *5

0.76 (NA)

11.82 (NA)

CYP3A4

two normal alleles

9.52 (2.12)

−7.11 (−25.30;11.09)

0.435

9.67 (2.27)

−6.72 (−29.08;15.65)

0.547

one allele *1B

1.88 (1.07)

2.96 (1.56)

two alleles *1B

NA

NA

CYP3A5

two normal alleles

NA

2.54 (−10.64;15.72)

0.699

NA

5.46 (−10.63;21.54)

0.497

one allele *3

6.45 (5.00)

4.33 (1.02)

two alleles *3

9.45 (2.2)

9.86 (2.38)

  1. U-PBG/Cr Urine PBG-to-creatinine ratio (μmol /mmol), reference range < 1.5 μmol /mmol, U-ALA/Cr Urine ALA-to-creatinine ratio (μmol /mmol), reference range < 3.8 μmol /mmol, SE Standard error; beta: regression analysis coefficient adjusted by age, sex and history of acute attacks; CI 95%: 95% confidence interval of beta; NA: Not applicable