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Table 1 Demographic characteristics and ABCB1 genotype, allele and haplotype frequencies (n, (%))

From: ABCB1genotypes and haplotypes in patients with dementia and age-matched non-demented control patients

 

Total POP (n = 154)

Controls (n = 41)

AD (n = 48)

VaD (n = 19)

OD (n = 26)

MCI (n = 20)

Age, Mean ± SD (range)

81.7 ± 5.9 (63.3–94.8)

81.9 ± 5.7 (69.5–94.5)

81.0 ± 5.5 (71.9–93.3)

83.6 ± 5.6 (67.6–89.7)

82.1 ± 5.2 (69.6–94.8)

80.5 ± 6.9 (63.3–90.7)

Gender, n (%) female

92 (59.7)

27 (65.9)

33 (68.8)

8 (42.1)

11 (42.3)

13 (65.0)

Education, median IQR (range)

4 IQR: 3 (1–7)

4 IQR:3 (1–6)*

4 IQR:3 (1–7)†

5 IQR:2 (4–6)†

4 IQR: 3 (2–7)†

4 IQR:3 (2–6)*

Baseline MMSE, Mean ± SD (range)

21.2 ± 5.7 (3–30)

26.6 ± 2.2 (21–29)

18.2 ± 4.4†,§ (6–26)#

18.1 ± 7.5†,§ (3–29)

20.9 ± 5.2† (12–30)†

25.3 ± 2.7 (19–30)†

Ethnicity, n (%) CAU

151 (98.1)

40 (97.6)

48 (100)

19 (100)

25 (96.2)

19 (95.0)

SNP C1236T (12)

      

   CC

44 (28.6)

12 (29.3)

12 (25.0)

3 (15.8)

7 (26.9)

10 (50.0)

   CT

75 (48.7)

20 (48.8)

25 (52.1)

10 (52.6)

14 (53.8)

6 (30.0)

   TT

35 (22.7)

9 (22.0)

11 (22.9)

6 (31.6)

5 (19.2)

4 (20.0)

   Allele freq T (%)

0.471

0.463

0.490

0.579

0.462

0.350

SNP G2677T/A (21)

      

   GG

46 (29.9)

12 (29.3)

13 (27.1)

4 (21.2)

7 (26.9)

10 (50.0)

   GT

67 (43.5)

16 (39.0)

24 (50.0)

9 (47.4)

13 (50.0)

5 (25.0)

   TA

3 (1.9)

2 (4.9)

0 (0.0)

0 (0.0)

1 (3.8)

0 (0.0)

   TT

38 (24.7)

11 (26.8)

11 (22.9)

6 (31.6)

5 (19.2)

5 (25.0)

   Allele freq T (%)

0.474

0.488

0.479

0.553

0.462

0.375

   Allele freq A (%)

0.010

0.024

0.000

0.000

0.019

0.000

SNP C3435T (26)

      

   CC

32 (20.8)

9 (22.0)

5 (10.4)

2 (10.5)

8 (30.8)

8 (40.0)

   CT

70 (45.5)

18 (43.9)

26 (54.2)

9 (47.4)

10 (38.5)

7 (35.0)

   TT

52 (33.8)

14 (34.1)

17 (35.4)

8 (42.1)

8 (30.8)

5 (25.0)

   Allele freq T (%)

0.565

0.561

0.625

0.658

0.500

0.425

Haplotype

Total POPa (n = 148)

Controls (n = 38)

AD (n = 48)

VaD (n = 19)

OD (n = 24)

MCI (n = 19)

   T-T-T

130 (0.439)

33 (0.434)

43 (0.448)

20 (0.526)

22 (0.458)

12 (0.316)

   C-G-C

114 (0.385)

29 (0.382)

34 (0.354)

11(0.289)

21 (0.438)

19 (0.500)

   C-G-T

38 (0.128)

10 (0.132)

15 (0.156)

5 (0.132)

4 (0.083)

4 (0.105)

   C-T-T

5 (0.017)

3 (0.039)

1 (0.010)

0 (0.000)

0 (0.000)

1 (0.026)

   T-G-C

4 (0.014)

1 (0.013)

2 (0.021)

1 (0.026)

0 (0.000)

0 (0.000)

   T-T-C

5 (0.017)

0 (0.000)

1 (0.001)

1 (0.026)

1 (0.021)

2 (0.053)

  1. * missing for 2 patients. † missing for 1 patient. ‡p < 0.001 vs. controls. §p < 0.001 vs. MCI performed in 22 controls. #missing for 3 patients.
  2. Haplotype of the different SNPs, i.e. number of alleles and frequencies of the haplotype mentioned. C1236T-G2677T-C3435T;a 3 patients with an ethnicity different from Caucasian and 3 patients bearing an A allele at the 2677 (exon 21) position were excluded from haplotype analysis. POP = Population, AD = Alzheimer's Disease, VaD = Vascular Dementia, OD = Other dementias, MCI = Mild Cognitive Impairment, SD = Standard Deviation, IQR = Inter Quartile Range, MMSE = Mini Mental State Examination, CAU = Caucasian race, SNP = Single Nucleotide Polymorphism.
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Molecular Neurodegeneration

ISSN: 1750-1326