Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2228570
rs2228570
VDR
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 GeneticVariation BEFREE <b>Conclusions:</b> Our meta-analysis supported that <i>VDR</i> rs2228570 variant might serve as a genetic biomarker of periodontitis. 30957605

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans
0.010 GeneticVariation BEFREE <i>Conclusions</i>: These preliminary results have shown that C allele of rs2228570 may contribute to the development of TAO in patients of Caucasian Polish origin. 31424978

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD)
0.010 GeneticVariation BEFREE <i>VDR</i> rs2228570 polymorphism was associated with a reduced risk of AITD in Asian populations. 29765404

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0035579
Disease: Rickets
Rickets
0.010 GeneticVariation BEFREE 16 studies were recruited for the analysis of the association between VDR BsmI (rs1544410), TaqI (rs731236), FokI (rs2228570) and ApaI (rs7975232) gene polymorphisms and the risk of rickets among Asians, most of whom were from China. 24336386

2014

dbSNP: rs2228570
rs2228570
VDR
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation BEFREE : To investigate whether vitamin D receptor gene (<i>VDR</i>) BsmI-rs1544410 and FokI-rs2228570 polymorphisms, smoking duration, and body mass index (BMI) are risk factors for cutaneous melanoma, especially metastatic melanoma. 28884047

2017

dbSNP: rs2228570
rs2228570
VDR
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.010 GeneticVariation BEFREE : To investigate whether vitamin D receptor gene (<i>VDR</i>) BsmI-rs1544410 and FokI-rs2228570 polymorphisms, smoking duration, and body mass index (BMI) are risk factors for cutaneous melanoma, especially metastatic melanoma. 28884047

2017

dbSNP: rs2228570
rs2228570
VDR
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation BEFREE Diabetes duration, SBP, HbA1c, and the rs2228570 T allele were associated with increased risk of DR. VDR rs2228570 might be good candidate biomarker of DR in Han Chinese T2DM patients. 25899017

2015

dbSNP: rs2228570
rs2228570
VDR
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE Diabetes duration, SBP, HbA1c, and the rs2228570 T allele were associated with increased risk of DR. VDR rs2228570 might be good candidate biomarker of DR in Han Chinese T2DM patients. 25899017

2015

dbSNP: rs2228570
rs2228570
VDR
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
0.010 GeneticVariation BEFREE A systematic review was conducted on the relationship between childhood asthma and VDR gene polymorphisms, including ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236). 27551963

2017

dbSNP: rs2228570
rs2228570
VDR
Diabetes Mellitus, Insulin-Dependent
0.030 GeneticVariation BEFREE A total of 9, 5, 3, and 7 studies were finally included in the analyses for the associations between the VDR TaqI (rs731236), FokI (rs2228570), ApaI (rs7975232), or aggrecan VNTR polymorphisms and the risk of IDD, respectively. 23209686

2012

dbSNP: rs2228570
rs2228570
VDR
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder
0.020 GeneticVariation BEFREE A total of 9, 5, 3, and 7 studies were finally included in the analyses for the associations between the VDR TaqI (rs731236), FokI (rs2228570), ApaI (rs7975232), or aggrecan VNTR polymorphisms and the risk of IDD, respectively. 23209686

2012

dbSNP: rs2228570
rs2228570
VDR
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.010 GeneticVariation BEFREE An association with the minor allele A of the non-synonymous SNP rs2228570 (rs10735810, FokI, Met1Thr) was observed for BC, with an estimated odds ratio (OR) of 1.26 (95% CI = 1.02-1.57; p = 0.036). 19105801

2008

dbSNP: rs2228570
rs2228570
VDR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE Association of FokI (rs2228570) and BsmI (rs1544410) single nucleotide polymorphisms (SNPs) in VDR gene with the risk of breast cancer have been investigated in several studies, however, the published data are still inconsistent. 28780723

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Association of FokI (rs2228570) and BsmI (rs1544410) single nucleotide polymorphisms (SNPs) in VDR gene with the risk of breast cancer have been investigated in several studies, however, the published data are still inconsistent. 28780723

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0004096
Disease: Asthma
Asthma
0.050 GeneticVariation BEFREE Besides, the risk of asthma progression was increased in patients with the VDR rs2228570 CC and VDBP rs7041 GG genotypes (OR = 3.56, P = .0382 and OR = 2.58, P = .01, respectively). 31541492

2020

dbSNP: rs2228570
rs2228570
VDR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.020 GeneticVariation BEFREE Both VDR-rs2228570-T and OPG-rs3102735-G and their interactions are related to the increased risk of osteoporosis. 30624097

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.010 GeneticVariation BEFREE BsmI (rs1544410) and FokI (rs2228570) vitamin D receptor polymorphisms, smoking, and body mass index as risk factors of cutaneous malignant melanoma in northeast Italy. 28884047

2017

dbSNP: rs2228570
rs2228570
VDR
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE Collectively, this meta-analysis proved that VDR rs7975232, VDR rs2228570, VEGF rs699947, VEGF rs3025039, IL-18 rs1946518, and MBL rs7096206 polymorphisms may confer susceptibility to HCC in certain populations. 31830994

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 GeneticVariation BEFREE Combining VDR rs2228570 A/A genotype with IL28B C/C genotype increased the probability of SVR from 82 % to reach 100 % and from 29 % to reach 80 % in C/T+ T/T IL28B genotype in none F4 liver disease patients. 26911666

2016

dbSNP: rs2228570
rs2228570
VDR
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.020 GeneticVariation BEFREE Donor/recipient CYP27A1 rs4674344 and graft VDR rs2228570 may be related to low serum 25(OH)D and may play a major role in the development of fatty liver disease in recipients after living donor liver transplantation. 29935100

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE For example, breast cancer risk was associated with the GC rs7041 TT genotype (age-adjusted odds ratio (OR) = 1.23; 95% CI: 1.01, 1.51) and inversely with the VDR Fok1 (rs2228570) ff genotype (OR = 0.71; 95% CI: 0.57, 0.88). 21693626

2011

dbSNP: rs2228570
rs2228570
VDR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE For example, breast cancer risk was associated with the GC rs7041 TT genotype (age-adjusted odds ratio (OR) = 1.23; 95% CI: 1.01, 1.51) and inversely with the VDR Fok1 (rs2228570) ff genotype (OR = 0.71; 95% CI: 0.57, 0.88). 21693626

2011

dbSNP: rs2228570
rs2228570
VDR
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
0.010 GeneticVariation BEFREE Further analysis indicated that rs1544410 and rs7975232 polymorphisms were correlated with the risk to nonsevere AA, while rs2228570 was relevant to severe AA. 27018192

2016

dbSNP: rs2228570
rs2228570
VDR
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.020 GeneticVariation BEFREE Further subgroup analyses yielded similar positive results for rs2228570 variant in East Asians and patients with chronic periodontitis. 30957605

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0004096
Disease: Asthma
Asthma
0.050 GeneticVariation BEFREE Furthermore, we found that the rs2228570 genotype (OR, 3.763) of the VDR SNP and the vitamin D concentration (lower than 40 ng/ml, OR: 38.938) both contribute to increased susceptibility to bronchial asthma. 31719947

2019