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Vitamin D receptor polymorphisms among the Turkish population are associated with multiple sclerosis

B Bulan
B Bulan
, 
AY Hoscan
AY Hoscan
, 
SN Keskin
SN Keskin
, 
A Cavus
A Cavus
, 
EA Culcu
EA Culcu
, 
N Isik
N Isik
, 
EO List
EO List
 et 
A Arman
A Arman
   | 01 mars 2023
Balkan Journal of Medical Genetics's Cover Image
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Article Category: Original Article
Publié en ligne: 01 mars 2023
Pages: 41 - 50
DOI: https://doi.org/10.2478/bjmg-2022-0003
© 2022 Bulan B, Hoscan AY, Keskin SN, Cavus A, Culcu EA, Isik N, List EO, Arman A, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Genotype distribution of VDR Gene Bsm-I polymorphisms in different inheritance models in the MS patients and control group

a) Bsm-I Recessive Model
G/G or G/A A/A Total p
MS-Control
Control 83.3% (n=169) 16.7% (n=34) 100% (n=203)
MS 80.1% (n=217) 19.9% (n=54) 100% (n=271) 0.379
Total 81.4%(n=386) 18.6% (n=88) 100% (n=474)
b) Bsm-I Dominant Model
G/G G/A or A/A Total p
MS-Control
Control 36.9% (n=75) 63.1% (n=128) 100% (n=203)
MS 35.8% (n=97) 64.2% (n=174) 100% (n=271) 0.796
Total 36.3%(n=172) 63.7% (n=302) 100% (n=474)
c) Bsm-I Homozygote Model
G/G A/A Total p
MS-Control
Control 68.8% (n=75) 31.2% (n=34) 100% (n=88)
MS 64.2% (n=97) 35.8% (n=54) 100% (n=172) 0.442
Total 33.8%(n=88) 66.2% (n=172) 100% (n=260)
d) Bsm-I Heterozygote Model
G/G G/A Total p
MS-Control
Control 44.4% (n=75) 55.6% (n=94) 100% (n=169)
MS 44.7% (n=97) 55.3% (n=120) 100% (n=217) 0.950
Total 55.4%(n=214) 44.6% (n=172) 100% (n=386)

Primers used for amplification of polymorphism sites on the VDR gene.

Polymorphism Forward Primer Reverse Primer
Fok-I (rs2228570) AGGATGCCAGCTGGCCCTGGCAC TGGCTGTGAGCGCCGCATGTTCCATG
Bsm-I (rs1544410) TCCTTGAGCCTCCAGTCCAGG GCAACCTGAAGGGAGACGTAGC
Taq-I (rs731236) AGAGCATGGACAGGGAGCAAGGC TAGCTTCATGCTGCACTCAGGCTGG

Genotype distribution of VDR Gene Fok-I polymorphisms in different inheritance models in the MS patients and control group

a) Fok-I Recessive Model
T/C or TT C/C Total p
MS-Control
Control 52.2% (n=106) 47.8% (n=97) 100% (n=203)
MS 58.3% (n=158) 41.7% (n=113) 100% (n=271) 0.187
Total 55.7%(n=264) 44.3% (n=210) 100% (n=474)
b) Fok-I Dominant Model
T/T T/C or C/C Total p
MS-Control
Control 13.3% (n=27) 86.7% (n=176) 100% (n=203)
MS 22.5% (n=61) 77.5% (n=210) 100% (n=271) 0.011
Total 18.6%(n=88) 81.4% (n=386) 100% (n=474)
c) Fok-I Homozygote Model
T/T C/C Total p
MS-Control
Control 21.8% (n=27) 78.2% (n=97) 100% (n=124)
MS 35.1% (n=61) 64.9% (n=113) 100% (n=174) 0.013
Total 29.5%(n=88) 70.5% (n=210) 100% (n=298)
d) Fok-I Heterozygote Model
T/T T/C Total p
MS-Control
Control 25.5% (n=27) 74.5% (n=79) 100% (n=106)
MS 38.6% (n=61) 61.4% (n=97) 100% (n=158) 0.026
Total 33.8%(n=88) 66.7% (n=176) 100% (n=264)

Distribution of VDR gene Polymorphisms within gender in MS patients

a) Bsm-I Genotype
G/G G/A A/A Total p
Gender
Female 37.2% (n=70) 43.6% (n=82) 19.1% (n=36) 100% (n=188)
Male 32.5% (n=27) 45.8% (n=38) 21.7% (n=18) 100% (n=83) 0.740
Total 35.8% (n=97) 44.3% (n=120) 19.9% (n=54) 100% (n=271)
b) Fok-I Genotype
T/T T/C C/C Total p
Gender
Female 22.3% (n=42) 33.0% (n=62) 44.7% (n=84) 100% (n=188)
Male 22.9% (n=19) 42.2% (n=35) 34.9% (n=29) 100% (n=83) 0.262
Total 22.5% (n=61) 35.8% (n=97) 41.7% (n=113) 100% (n=271)
c) Taq-I Genotype
C/C C/T T/T Total p
Gender
Female 34.6% (n=65) 41.0% (n=77) 24.5% (n=46) 100% (n=188)
Male 28.9% (n=24) 39.8% (n=33) 31.3% (n=26) 100% (n=83) 0.449
Total 32.8% (n=89) 40.6% (n=110) 26.6% (n=72) 100% (n=271)

Genotype distribution and allele frequency of VDR Fok-I polymorphism in MS patients and healthy controls.

a) Fok-I Genotype
T/T T/C C/C Total p Power (%)
MS-Control
Control 13.3% (n=27) 38.9% (n=79) 47.8% (n=97) 100%(n=203) 0.037
MS 22.5% (n=61) 35.8% (n=97) 41.7% (n=113) 100%(n=271) 100
Total 18.6% (n=88) 37.1% (n=176) 44.3% (n=210) 100%(n=474)
MS subtypes
Control 13.3% (n=27) 38.9% (n=79) 47.8% (n=97) 100%(n=203)
RRMS SPMS 23.3% (n=43) 21.1% (n=18) 33.2% (n=61) 42.4% (n=36) 43.5% (n=80) 36.5% (n=31) 100%(n=184) 100%(n=85) 0.074 100
PPMS 0.0% (n=0) 0.0% (n=0) 100%.0 (n=2) 100%(n=2)
Total 18.6% (n=88) 37.1% (n=176) 44.3% (n=210) 100%(n=474)
b) Fok-I Allele
T C Total p Power (%)
MS-Control
Control 32.8% (n=133) 67.2% (n=273) 100% (n=406)
MS 40.4% (n=219) 59.6% (n=323) 100% (n=542) 0.016 100
Total 37.1% (n=352) 62.9% (n=596) 100% (n=948)
MS subtypes
Control 32.8% (n=133) 67.2% (n=273) 100% (n=406)
RRMS 39.9% (n=147) 60.1% (n=221) 100% (n=368)
SPMS 42.4% (n=72) 57.6% (n=98) 100% (n=170) 0.030 100
PPMS 0.0% (n=0) 100.0% (n=4) 100% (n=4)
Total 37.1% (n=352) 62.9% (n=596) 100% (n=948)

Genotype distribution of VDR Gene Taq-I polymorphisms in different inheritance models in the MS patients and control group

a) Taq-I Recessive Model
T/C or T/T C/C Total p
MS-Control
Control 62.6% (n=127) 37.4% (n=76) 100% (n=203)
MS 67.2% (n=182) 32.8% (n=89) 100% (n=271) 0.299
Total 65.2%(n=309) 34.8% (n=165) 100% (n=474)
b) Taq-I Dominant Model
T/T T/C or C/C Total p
MS-Control
Control 16.7% (n=34) 83.3% (n=169) 100% (n=203)
MS 26.6% (n=72) 73.4% (n=199) 100% (n=271) 0.011
Total 22.4%(n=106) 77.6% (n=368) 100% (n=474)
c) Taq-I Homozygote Model
T/T C/C Total p
MS-Control
Control 30.9% (n=34) 69.1% (n=76) 100% (n=110)
MS 44.7% (n=72) 55.3% (n=89) 100% (n=161) 0.022
Total 39.1%(n=106) 60.9% (n=165) 100% (n=271)
d) Taq-I Heterozygote Model
T/T T/C Total p
MS-Control
Control 26.8% (n=34) 73.2% (n=93) 100% (n=127)
MS 39.6% (n=72) 60.4% (n=110) 100% (n=182) 0.020
Total 34.3%(n=106) 65.7% (n=203) 100% (n=309)

Genotype distribution and allele frequency of VDR Taq-I polymorphism in MS patients and healthy controls.

a) Taq-I Genotype
C/C C/T T/T Total p Power (%)
MS-Control
Control 16.7% (n=34) 45.8% (n=93) 37.5% (n=76) 100%(n=203) 0.040
MS 26.6% (n=72) 40.6% (n=110) 32.8% (n=89) 100%(n=271) 99
Total 22.4% (n=106) 42.8% (n=203) 34.8% (n=165) 100%(n=474)
MS subtypes
Control 16.7% (n=34) 45.8% (n=93) 37.5% (n=76) 100%(n=203)
RRMS 23.9% (n=44) 43.5% (n=80) 32.6% (n=60) 100%(n=184)
SPMS 32.9% (n=28) 34.2% (n=29) 32.9% (n=28) 100%(n=85) 0.101 100
PPMS 0.0% (n=0) 50.0% (n=1) 50.0% (n=1) 100%(n=2)
Total 22.4% (n=106) 42.8% (n=203) 34.8% (n=165) 100%(n=474)
b) Taq-I Allele
T C Total p Power (%)
MS-Control
Control 60.3% (n=245) 39.7% (n=161) 100% (n=406) 0.027
MS 53.1% (n=288) 46.9% (n=254) 100% (n=542) 99
Total 56.2% (n=533) 43.8% (n=415) 100% (n=948)
MS subtypes
Control 60.3% (n=245) 39.7% (n=161) 100% (n=406)
RRMS 54.3% (n=200) 45.7% (n=168) 100% (n=368)
SPMS 50.0% (n=85) 50.0% (n=85) 100% (n=170) 0.087 100
PPMS 75.0% (n=3) 25.0% (n=1) 100% (n=4)
Total 56.2% (n=533) 43.8% (n=415) 100% (n=948)

Distribution of VDR gene allele within gender in MS patients

a) Bsm-I Allele
G A Total p
Gender
Female 61.7% (n=153) 38.3% (n=95) 100% (n=248)
Male 48.0% (n=49) 52.0% (n=53) 100% (n=102) 0.019
Total 57.7%(n=202) 42.3% (n=148) 100% (n=350)
b) Fok-I Allele
T C Total p
Gender
Female 29.0% (n=72) 71.0% (n=176) 100% (n=248) 0.800
Male 30.4% (n=31) 71.0% (n=69.6) 100% (n=102)
Total 55.7%(n=264) 70.6% (n=247) 100% (n=350)
c) Taq-I Allele
T C Total p
Gender
Female 37.5% (n=93) 37.4% (n=76) 100% (n=248) 0.137
Male 46.1% (n=47) 53.9% (n=55) 100% (n=102)
Total 40.0%(n=140) 60.0% (n=210) 100% (n=350)

Genotype distribution and allele frequency of VDR Bsm-I polymorphism in MS patients and healthy controls.

a) Bsm-I Genotype
G/G G/A A/A Total p Power (%)
MS-Control
Control 37.0% (n=75) 46.3% (n=94) 16.7% (n=34) 100% (n=203) 0.677
MS 35.8% (n=97) 44.3% (n=120) 19.9% (n=54) 100% (n=271) 100
Total 36.3% (n=172) 45.1% (n=214) 18.6% (n=88) 100% (n=474)
MS subtypes
Control 37.0% (n=75) 46.3% (n=94) 16.7% (n=34) 100% (n=203)
RRMS 35.9% (n=66) 46.7% (n=86) 17.4% (n=32) 100% (n=184)
SPMS 35.3% (n=30) 38.8% (n=33) 25.9% (n=22) 100% (n=85) 0.622 100
PPMS 50.0% (n=1) 50.0% (n=1) 0.0% (n=0) 100% (n=2)
Total 36.3% (n=172) 45.1% (n=214) 18.6% (n=88) 100% (474)
b) Bsm-I Allele
G A Total p Power (%)
MS-Control
Control 60.1% (n=244) 39.9% (n=162) 100% (n=406)
MS 57.9% (n=314) 42.1% (n=228) 100% (n=542) 0.503 100
Total 58.9%(n=558) 41.1% (n=390) 100% (n=948)
MS subtypes
Control 60.1% (n=244) 39.9% (n=162) 100% (n=406)
RRMS 59.2% (n=218) 40.8% (n=150) 100% (n=368) 0.589
SPMS 54.7% (n=93) 45.3% (n=77) 100% (n=170) 100
PPMS 75.0% (n=3) 25.0% (n=1) 100% (n=4)
Total 58.8% (n=558) 41.2% (n=390) 100% (n=948)
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