
ASSOCIATION OF –308TNF AND +252LTA
SINGLE NUCLEOTIDE POLYMORPHISMS WITH
HEMATOLOGICAL MALIGNANCIES IN CHILDREN
FROM THE BASHKORTOSTAN REPUBLIC
Yakupova EV 1,* Krasavtceva TN2, Malyevsky OA2, Viktorova TV1 *Corresponding Author: Dr. Elvira V. Yakupova, Institute of Biochemistry and Genetics, Ufa Research Centre, Russian Academy of Science, Prospect Oktyabrya 69, Ufa 450054, Russia; Tel./Fax: +007-3472-356088; E-mail: ecolab_203@mail.ru page: 9
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RESULTS
Distributions of genotype and allele frequencies of the–308G®A TNF gene polymorphism are shown in Table 1. We have found a slightly increased TNF*GG genotype frequency among hematological malignancy patients, but differences among analyzed groups were not significant (c2 = 0.38, p = 0.54). When the hematological malignancies group were divided according to diagnosis, patients with ALL showed the same distribution of genotypes as the control group. We noted an increased frequency of the TNF*AA genotype among AML patients. The TNF*GG genotype frequency in the group of patient with NHL was the highest among the analyzed groups (c2 = 8.15, p = 0.005). The lowest frequency of the TNF*A allele was among NHL patients.
The distribution of genotype and allele frequencies of the +252A®G LTA gene polymorphism among the hematological malignancy patients were similar to those observed in healthy controls (Table 2). But we did note some increase of the LTA*GG genotype among hematological malignancy patients (c2 = 1.54, p = .22). The LTA*AG genotype frequency was highest in the AML group of patients, and among patients with NHL, the LTA*AA genotype frequency was significantly higher (c2 = 9.12, p = 0.003).
The genotype combinations of the TNF/LTA genes are shown in Table 3. It is important to note that the frequency of the TNF/LTA genotype combinations with at least one mutant allele among AML patients was found in 80% of cases, more often than in any other group. Combinations with one or two mutant alleles in the NHL group were found in only 22.22%, furthermore, we have not found genotype combinations that included more than two mutant alleles in the NHL group.
Table 1. Genotype and allele frequency distributions (%) of the –308G®A polymorphism of the promoter region of the TNF gene.
|
n |
TNF*GG |
TNF*GA |
TNF*AA |
TNF*G |
TNF*A |
Hematological malignancy patients |
105 |
72.38 |
23.81 |
3.81 |
84.29 |
15.71 |
ALL patients |
86 |
72.09 |
24.42 |
3.49 |
84.30 |
15.70 |
AML patients |
10 |
60.00 |
30.00 |
10.00 |
75.00 |
25.00 |
NHL patients |
9 |
88.89 |
11.11 |
00.00 |
94.44 |
5.56 |
Control subjects |
131 |
67.18 |
31.30 |
1.52 |
82.38 |
17.17 |
Table 2. Genotype and allele frequency distributions (%) of the +252A®G polymorphism of the LTA gene.
|
n |
LTA*AA |
LTA*AG |
LTA*GG |
LTA*A |
LTA*G |
Hematological malignancy patients |
105 |
55.24 |
37.14 |
7.62 |
73.81 |
26.19 |
ALL patients |
86 |
56.98 |
33.72 |
9.30 |
73.84 |
26.16 |
AML patients |
10 |
20.00 |
80.00 |
00.00 |
60.00 |
40.00 |
NHL patients |
9 |
77.78 |
22.22 |
00.00 |
88.89 |
11.11 |
Control subjects |
141 |
54.61 |
42.55 |
2.84 |
75.89 |
24.11 |
Table 3 Association between –308TNF and +252LTA genotypes (%).
TNF/LTA |
n |
GG/AA |
GG/AG |
GG/GG |
GA/AA |
GA/AG |
GA/GG |
AA/AG |
AA/GG |
Hematological
malignancy |
105 |
49.53 |
20.00 |
2.86 |
5.71 |
15.24 |
2.86 |
1.90 |
1.90 |
ALL |
86 |
50.00 |
18.60 |
3.49 |
6.98 |
13.95 |
3.49 |
1.16 |
2.33 |
AML |
10 |
20.00 |
40.00 |
00.00 |
00.00 |
30.00 |
00.00 |
10.00 |
00.00 |
NHL |
9 |
77.78 |
11.11 |
00.00 |
00.00 |
11.11 |
00.00 |
00.00 |
00.00 |
Control subjects |
126 |
47.62 |
20.63 |
0.79 |
6.35 |
21.44 |
1.59 |
0.79 |
0.79 |
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