VITAMIN D RECEPTOR POLYMORPHISMS
AMONG THE TURKISH POPULATION
ARE ASSOCIATED WITH MULTIPLE SCLEROSIS
Bulan B1, Hoscan AY1, Keskin SN1, Cavus A1, Culcu EA1, Isik N2, List EO2, Arman A*4
*Corresponding Author: Dr. Ahmet Arman, The Department of Medical Genetics, Marmara Teaching
and Research Hospital, Marmara University, 34899, Pendik, Istanbul/TURKEY. Tel #: +90-216-
657 0606, Fax #: +90-216-414 47 31, e-mail: ahmetarman@marmara.edu.tr, ORCID Id: https://orcid.org/0000-0001-5547-0024
page: 10
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RESULTS
VDR gene polymorphisms (Fok-I, Taq-I and Bsm-I)
were determined in both MS and healthy people in the
Turkish population. The distribution of the genotypes of
Bsm-I, Fok-I, and Taq-I polymorphisms between MS/MS
subtype group and control group are shown in Table 2a,
Table 3a, and Table 4a, respectively. Chi-square tests were
performed for the distribution of VDR gene polymorphisms
across MS/MS subtype group and control group (Table 2a,
Table 3a, Table 4a).
There were significant differences in Fok-I (Table
3a), Taq-I (Table 4a) polymorphism genotype distributions
across MS/MS subtype group and control group.
Distribution of the Fok-I polymorphism T/T genotype
was 22.5 % (n=61) in the MS group and 13.3% (n=27)
in the control group. Otherwise, the distribution of the
Fok-I polymorphism C/C genotype was 41.7% (n=113)
in the MS group and 47.8 % (n=97) in the control group
(Pearson test; p<0.05). The distribution of the Taq-I polymorphism
T/T genotype was 26.6 % (n=72) in MS group
and 16.7 % (n=34) in the control group. Otherwise, the
distribution of the Taq-I polymorphism C/C genotype
was 32.8 % (n=89) in the MS group and 37.5 % (n=76)
in the control group (Pearson test; p<0.05). Distribution
of Fok-I (Table 6a-d) and Taq-I polymorphisms (Table
7a-d) in the MS and control groups differ significantly
in dominant, heterozygote, and homozygote inheritance
models (Pearson test; p<0.05). However, Fok-I and Taq-I
polymorphism genotypes within any binary comparison of MS subtype group and control group were similar (Pearson
test; p>0.05). There was no significant difference in Bsm-I
(Table 2a, Table 5a-d) polymorphism genotype distribution
across MS/MS subtype group and the control group in any
inheritance models (Pearson test; p>0.05). Of the 271 MS
patients and 203 healthy controls, the VDR gene allele
frequencies (allele Fok-I, allele Taq-I and allele Bsm-I)
were established.
The proportions of the alleles of Bsm-I, Fok-I, and
Taq-I polymorphisms are shown in Table 2b, Table 3b and
Table 4b, respectively. Chi-square tests were performed for
frequency of the VDR gene alleles within MS/MS subtype
group and the control group (Table 2b, Table 3b, Table 4b).
There were significant differences of Fok-I (Table 3b) and
Taq-I (Table 4b) polymorphism allele frequencies across
MS/MS subtype group and the control group. The frequency
of the Fok-I T allele was 40.4 % (n=219) in the MS
group and 32.8 % (n=133) in the control group (MS/control
odds ratio=1.391; CI 95%=1.063-1.821). Otherwise, the
frequency of the Fok-I C allele was 59.6% (n=323) in the
MS group and 67.2 % (n=273) in the control group (MS/
control odds ratio=0.719; CI 95%=0.549-0.940) (Pearson
test; p<0.05). The frequency of the Fok-I T allele was 42.4
% (n=72) in the SPMS subtype group and 39.9 % (n=147)
in the RRMS subtype group. Otherwise, the frequency of
the Fok-I C allele was 57.6% (n=98) in the SPMS subtype
group; 60.1% (n=221) in the RRMS subtype group
and 100% (n=4) in the PPMS subtype group (Pearson
test; p<0.05). The frequency of Taq-I C allele was 46.9%
(n=254) in the MS group and 39.7% (n=161) in the control
group (MS/control odds ratio=1.342; CI 95%= 1.034-
1.742). Otherwise, the frequency of the Taq-I T allele was
53.1% (n=288) in the MS group and 60.3 % (n=245) in
the control group (MS/control odds ratio=0.745; %95 CI=
0.574-0.967) (Pearson test; p<0.05). However, the frequency
of the Taq-I allele within any binary comparison of
the MS subtypes group and the control group were similar
(Pearson test; p>0.05). There was no significant difference
in the Bsm-I (table 2b) polymorphism allele frequencies
across the MS/MS subtype group and control group.
Among the MS patients, there were 188 males and
83 females. Distribution of the VDR gene genotypes and
allele frequencies did not differ across genders in the MS
patients (Table 8a-c and Table 9a-c). However, only the
frequency of the Bsm-I alleles (G and A) were distributed
significantly between males and females (Table 9a). The
frequency of the Bsm-I G allele was 61.7% among females
and the frequency of Bsm-I A allele was 52% among males
(Pearson test; p<0.05).
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