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: C0003864
Disease: Arthritis
Arthritis
0.010 GeneticVariation BEFREE The clinical characteristics of BD patients were evaluated and patients with ocular lesions had a higher percentage of rs1544410 A alleles (p = 0.004), and patients with oral aphthous lesions, a positive pathergy tests, and arthritis had more rs2228570 C alleles than patients without these clinical findings (respectively, p < 0.001, p = 0.021, p = 0.045). 30730049

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.010 GeneticVariation BEFREE The aim of this study was to evaluate the influence of rs2228570 polymorphism on lipid profile and on outcome in patients with juvenile idiopathic arthritis (JIA) treated with etanercept. 30128913

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 GeneticVariation BEFREE In Thai patients with chronic HCV infection, the bAt haplotype is associated with poor response to PEG-IFN-based therapy, and the <i>FokI</i> rs2228570 TT/TC genotypes are risk factors for advanced liver fibrosis. 31565578

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0023343
Disease: Leprosy
Leprosy
0.010 GeneticVariation BEFREE Some polymorphisms of the <i>VDR</i> gene, such as <i>Bsm</i>I (G>A rs1544410)<i>, Apa</i>I (G>T rs7975232), and <i>Taq</i>I (T>C rs731236) could affect its stability and mRNA transcription activity, while <i>Fok</i>I T>C (rs2228570) gives a truncated protein with three fewer amino acids and more efficiency in binding vitamin D. This study evaluated these four polymorphisms in the immunopathogenesis of leprosy in 404 patients and 432 control individuals without chronic or infectious disease in southern Brazil. 31636627

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Our findings demonstrated that VDR ApaI (rs7975232) and VDR BsmI (rs1544410) polymorphisms are correlated with susceptibility to PCOS in the Asian population and VDR TaqI (rs731236), VDR FokI (rs2228570), VDR Tru9I (rs757343) did not reveal a relationship with the PCOS susceptibility. 30764792

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 GeneticVariation BEFREE The <i>FokI</i> rs2228570 TT/TC genotypes (OR = 1.63, 95% CI [1.06-2.51], <i>p</i> = 0.03) and age ≥55 years (OR = 2.25; 95% CI [1.54-3.32], <i>p</i> < 0.001) were independently associated with advanced liver fibrosis, assessed based on FIB-4 score >3.25. 31565578

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 GeneticVariation BEFREE Our meta-analysis suggested that VDR rs1544410, rs2228570 and rs731236 variants might serve as genetic biomarkers of TB in certain populations. 30822458

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.010 GeneticVariation BEFREE Vitamin D receptor ApaI (rs7975232), BsmI (rs1544410), Fok1 (rs2228570), and TaqI (rs731236) gene polymorphisms and susceptibility to pulmonary tuberculosis in an Iranian population: A systematic review and meta-analysis. 31740220

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.010 GeneticVariation BEFREE The presence of the TT allele of the SNP rs2228570 of the VDR gene and the SNP rs731236 of the CC genotype was associated with the presence of osteopenia and decreased bone mineral density alongside malfunctions of vitamin D. 30963970

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 GeneticVariation BEFREE Our results indicate that VDR rs731236 & rs2228570 or VDBP rs7041 polymorphisms were not risk factors for the development of gastric cancer individually, however, lower serum levels of vitamin D may be a contributory risk for both predisposition and development of gastric cancer. 31549372

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 GeneticVariation BEFREE We investigated the relationship between <i>VDR FokI</i> (rs2228570) single nucleotide polymorphism (SNP) and renal function and related clinicopathologic parameters in IgAN patients. 31218132

2019

dbSNP: rs2228570
rs2228570
VDR
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE Our results indicate that VDR rs731236 & rs2228570 or VDBP rs7041 polymorphisms were not risk factors for the development of gastric cancer individually, however, lower serum levels of vitamin D may be a contributory risk for both predisposition and development of gastric cancer. 31549372

2019

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: 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: 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: C0456103
Disease: Sepsis of the newborn
Sepsis of the newborn
0.010 GeneticVariation BEFREE We aimed to investigate the association of VDR polymorphism at FokI, rs2228570 T/C, and TaqI, rs731236 C/T gene with serum 25-hydroxyvitamin D level and risk of neonatal sepsis. 29530503

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0003855
Disease: Arteriovenous fistula
Arteriovenous fistula
0.010 GeneticVariation BEFREE We investigated the influence of the vitamin D receptor gene TaqI (rs731236), ApaI (rs7975232), and FokI (rs2228570) polymorphisms in arteriovenous fistula failure in hemodialysis patients. 29544394

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 GeneticVariation BEFREE The VDR rs2228570 variant may increase susceptibility to dyslipidemia in the Chinese Han population. 30119682

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.010 GeneticVariation BEFREE Polymorphisms in the nicotinamide adenine dinucleotide synthase-1/dehydrocholesterol reductase-7 (rs3829251, rs12785878) and vitamin D receptor (rs2228570) genes were independently associated with increased steatosis; while a group-specific component variant (rs4588) was associated with increased inflammation in liver biopsies. 29761652

2018

dbSNP: rs2228570
rs2228570
VDR
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE This meta-analysis was conducted to assess the association of VDR ApaI (rs7975232), BsmI (rs1544410), TaqI (rs731236), and Fok1 (rs2228570) gene polymorphisms with RCC risk. 29970659

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0008495
Disease: Chorioamnionitis
Chorioamnionitis
0.010 GeneticVariation BEFREE The rs2228570 T/T genotype associated with gestational diabetes mellitus (p=0.044) and chorioamnionitis during pregnancy (p=0.043). 29128634

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease. 29581796

2018

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: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR
0.010 GeneticVariation BEFREE The VDR gene Fok I (rs2228570) polymorphism confers susceptibility to CAP in Egyptian children. 30135595

2018

dbSNP: rs2228570
rs2228570
VDR
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 GeneticVariation BEFREE The rs2228570 T/T genotype associated with gestational diabetes mellitus (p=0.044) and chorioamnionitis during pregnancy (p=0.043). 29128634

2018