ALU-INSERTION Yb8NBC36 IN THE KCNJ6 GENE IS A RISK FACTOR FOR PARKINSON’S DISEASE
Gilyazova I1,*, Khidiyatova I1, Akhmetova V1, Baitimerov A2, Magzhanov R2, Khusnutdinova E1
*Corresponding Author: Dr. Irina Gilyazova, Department of Human Genomics, Institute of Biochemistry and Genetics, Ufa Science Center, Russian Academy of Sciences, 71 Prospekt Oktyabrya, Ufa 450054, Russia; Tel.: +7(3472)356088; Fax: +7(3472)356100; E-mail: gilyasova_irina@mail.ru
page: 43

RESULTS

The genotype and allele frequencies of the Yb8NBC36 polymorphism of the KCNJ6 gene in PD patients and con­trols are shown in Table 1. Parkinson’s Disease patients differed significantly from healthy controls (χ2 = 49.88, p = 0.0005, OR = 4.41, CI = 2.84-6.84). Pair comparison of groups consisting of Russian, Tatar and Bashkir control subjects against each other, showed no significant differ­ences in genotype and allele frequency distributions. The frequency of the*I/*I genotype was similar in all these groups: 38.38% in the control group of Russian ethnic origin, 37.08% in Tatar and 32.40% in Bashkir. Similarly, PD patients of Russian, Tatar and Bashkir origin did not differ significantly from each other; the *I/*I genotype frequency being 62.96, 76 and 72.22%, respectively. The *D/*D genotype was not found in any patient or control. However, the PD groups differed significantly from the control groups. The prevalence of the *I/*I genotype in PD patients of Russian, Tatar and Bashkir origin compared with the control groups was 62.96% versus 38.38%, 76% versus 37.08% and 72.22% versus 32.40%, respectively, the differences being statistically significant for all three compared groups (p = 0.0070, OR = 2.73, 95% CI = 1.30-5.74; p = 0.0005, OR = 5.37, 95%CI = 2.74-10.62; p = 0.0059, OR = 5.42, 95% CI = 1.54-20.10, respectively).

      Allele *I was also found at a high frequency in PD patients of Russian, Tatar and Bashkir ethnic origin (Ta­ble 1), i.e., in Russian PD patients 81.48% versus 69.19% in Russian controls (χ2 = 4.81, p = 0.03, OR = 1.95, 95% CI = 1.07-3.62), Tatar patients 88% versus 68.54% in Tatar controls (χ2 = 20.22, p = 0.0005, OR = 3.36, 95% CI = 1.92-5.93), and Bashkir patients 86.11% versus 66.20% in Bashkir controls (χ2 = 4.54, p = 0.03, OR = 3.17, 95% CI = 1.08-9.93).

      We concluded that the *I/*I genotype and *I allele are genetic markers for an increased risk for PD development in Russians, Tatars and Bashkirs from Bashkortostan Republic. Statistically significant differences were also revealed between patients exhibiting different disease signs and controls (Table 2). The OR for patients with akinetic-trembling-rigid form of PD was 7.89 (95% CI = 1.54-54.19), for the akinetic-rigid form, OR = 4.83 (95% CI = 1.37-18.55), for the akinetic-rigid-trembling form, OR = 3.83 (95% CI = 2.21-6.68), and for the trembling-rigid form, OR = 3.69 (95% CI = 1.57-8.80) and for the rigid-trembling form, OR =3.22 (95% CI = 1.44-7.27). Furthermore, patients were subdivided into three groups according to the age of onset of the disease: under 40 years old, between 40 and 60 years old, and over 60 years old (Table 2). Statistically significant differences were found in those with the disease manifestation between 40 and 60 years old, and over 60 years old compared with controls (p <0.05, OR = 4.30, 95% CI = 2.33-8.00; OR = 5.03, 95% CI = 2.55-10.05). In patients with disease manifestation before 40 years old, the *I/*I genotype prevalence was higher but not statistically significant (p >0.05). When PD patients were grouped according to Hoehn and Yahr [15], all four groups demonstrated the *I/*I genotype to be a risk factor for PD development (Table 2). Thus, in Bash­okortostan, our results demonstrate an association of the Alu-insertion Yb8NBC36 of the KCNJ6 gene with PD.

 

Table 1. Allele and genotype frequency distribution of Alu-insertion Yb8NBC36 locus in the KCNJ6 gene in Parkinson’s Disease patients of different ethnic origins and healthy controls from the Bashkortostan Republic.

 

Yb8NBC36

Alleles

Genotypes

 

N

χ2

(p)

OR

95% CI

OR

RR

95% CI

RR

 

 *I

 *D

*I/*I

*I/*D

 

 

 

 

 

 

Controls

n

p

n

p

n

p

n

p

 

Russians

137

69.19

61

30.81

38

38.38

61

61.62

99

Tatars

122

68.54

56

31.46

33

37.08

56

62.92

89

Bashkirs

94

66.2

48

33.8

23

32.4

48

67.6

71

Total

353

68.15

165

31.85

94

36.29

165

63.71

259

Patients

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Russians

88

81.48

20

18.52

34

62.96

20

37.04

54

7.51 (0.007)

2.73

1.30-5.74

1.91

1.19-3.13

Tatars

176

88

24

12

76

76

24

24

100

27.65 (0.0005)

5.37

2.74-10.62

2.05

1.54-2.72

Bashkirs

31

86.11

5

13.89

13

72.22

5

27.78

18

7.87 (0.0059)

5.42

1.54-20.10

2.23

1.28-3.15

Total

295

85.76

49

14.24

123

71.51

49

28.49

172

49.88 (0.0005)

4.41

2.84-6.84

1.97

1.63-2.35

 

N: number of DNA examined; OR: odds ratio; 95% CI: 95% confidence interval; RR: relative risk; n: number of chromosomes; p: frequency (%). The χ2, OR and RR are only given for the genotype of risk (*I/*I); the *D/*D genotype was not found in any patient or control.

 

 
 



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