Genetics Research
rs17523802
Population Frequencies8
African
G 0.7458A 0.2542GG 0.581543GA/AG 0.328613AA 0.089844pop=4,096
African American
G 0.7467A 0.2533GG 0.582573GA/AG 0.328267AA 0.089159pop=3,948
African Others
G 0.723A 0.277GG 0.554054GA/AG 0.337838AA 0.108108pop=148
European
G 0.9012A 0.0988GG 0.822727GA/AG 0.156942AA 0.020331pop=14,362
Latin American 1
G 0.899A 0.101GG 0.819149GA/AG 0.159574AA 0.021277pop=188
Latin American 2
G 0.973A 0.027GG 0.948485GA/AG 0.048485AA 0.00303pop=660
Other
G 0.927A 0.073GG 0.867232GA/AG 0.118644AA 0.014124pop=708
Studies10
Unread Studies10 ▼
1
Summary statistics for discovery GWAS of 22,473 varicose veins cases and 379,183 non-varicose veins controls in UK Biobank. Related publication: Ahmed W. et al., Nature Communications, 2022. SNP= SNP name CHR= Chromosome number BP= Genomic position (GRCh37) ALLELE1= effect allele ALLELE0= non-effect allele A1FREQ= frequency of allele A INFO= INFO score for imputed SNPs BETA= beta coefficient SE= standard error PVAL= p-value
2
… The DJ-1 promoter plasmid, containing the T or C allele at rs226249, or the A or G allele at rs17523802 (since rs17523802, rs200968609 and rs35675666 showed strong linkage …
3
Low DJ-1 protein level caused by DJ-1 gene mutation leads to autosomal recessive Parkinson’s disease (PD) due to impaired antioxidative activity. In sporadic PD patients, although mutations were rarely found, lower DJ-1 protein level was also reported. Dysregulation of DJ-1 gene expression might contribute to low DJ-1 protein level. Since the promoter is the most important element to initiate gene expression, whether polymorphisms in the DJ-1 promoter result in the dysregulation of gene expression, thus leading to low protein level and causing PD, is worth exploring. The DJ-1 promoter region was sequenced in a Chinese cohort to evaluate possible links between DJ-1 promoter polymorphisms, PD risk and clinical phenotypes. Dual-luciferase reporter assay was conducted to evaluate the influence of promoter polymorphisms on DJ-1 transcriptional activity. Related information in an existing genome-wide association studies (GWAS) database were looked up, meta-analysis of the present study and other previous reports was conducted, and expression quantitative trait loci (eQTL) analysis was performed to further explore the association. Three single nucleotide polymorphisms (SNPs) (rs17523802, rs226249, and rs35675666) and one 18 bp deletion (rs200968609) were observed in our cohort. However, there was no significant association between the four detected genetic variations and the risk of PD either in allelic or genotype model, in single-point analysis or haplotype analysis. This was supported by the meta-analysis of this study and previous reports as well as that of GWAS database PDGene. Dual luciferase reporter assay suggested these promoter polymorphisms had no influence on DJ-1 transcriptive activity, which is consistent with the eQTL analysis results using the data from GTEx database. Thus, DJ-1 promoter polymorphisms may play little role in the dysregulation of DJ-1 expression and PD susceptibility in sporadic PD.
4
To evaluate the prevalence of the DJ-1 mutation in early-onset Parkinson's disease (EOPD) patients, and analyzed the association between the certain polymorphic marker g. …
5
Objective To evaluate the prevalence of the DJ-1 mutation in early-onset Parkinson’s disease (EOPD) patients，and analyzed the association between the certain polymorphic marker g.168_185del in intron1 and Parkinson’s disease (PD). Methods We screened all 7 exons and exonntron boundary regions of DJ-1 by PCR and direct nucleotide sequencing in 90 Chinese patients with EOPD.We also compared the allele and genotype frequencies of the g.168_185del polymorphism between EOPD patients and controls. Results We found no causative DJ-1 mutations in our cohort of Chinese EOPD patients.But we did identified 4 known polymorphic variants，including the g.168_ 185del in intron 1，g.5027G>A (rs17523802)，g.5065T>C (rs226249)，and g.5094C>T (rs11121064) within exon 1.Del/Ins frequencies of the g.168_185del polymorphism were 11.1% (10/ 90) and 13.3% (14/105) in EOPD group and normal group，respectively. Ins/Ins frequencies were 88.9% (80/90) and 86.7% (91/105)，the χ2and P value of genotype frequency were 0.222 and 0.669 between EOPD patients and controls，respectively.The insert frequencies were 94.4% (170/180) and 93.3% (196/210) in EOPD patients and controls，the deletion frequencies were 5.6% (10/180) and 6.7% (14/210)，the χ2and P value of allele frequency were 0.207 and 0.679 between EOPD patients and normal，respectively.Furthermore，the P value of genotype and allele frequencies were 0.736 and 0.744 between familial EOPD patients and controls，respectively; P values of genotype and allele frequencies were 0.847 and 0.852 between sporadic EOPD patients and control group，respectively.There was no statistical difference between groups. Conclusion Mutations in DJ-1 are uncommon in Chinese EOPD patients，and no association is observed between the DJ-1 intron 1 g.168_185del polymorphism and risk of PD. Key words: Parkinson disease; Oncogene proteins; Intracellular signaling peptides and proteins; Mutation; Promoter regions (genetics) ; Polymorphism，genetic
6
We analyzed the DJ1 gene in a large consecutive series (N = 163) of Italian unrelated Early Onset Parkinson Disease (EOPD: onset ≤40 years of age) patients and 100 healthy controls (mean age 64 ± 7 years). No homozygous or compound heterozygous mutations with an obvious pathogenic effect were found. Several variants were identified, some of which were novels. All variants had similar frequency in patients and in controls. Our data suggest that DJ1 mutations are very rare in Italian EOPD. Other genes and risk factors for PD are still to be identified.
7
Parkinson’s disease (PD) is a common neurodegenerative movement disorder. Among the candidate genes, DJ-1 accounts for about 1% of the cases in different populations. We aim to find the contribution of the gene towards PD among Indians. By screening DJ-1 in 308 PD patients of eastern India and 248 ethnically matched controls, a total of 21 nucleotide variants – including two nonsynonymous changes – were detected. p.Arg98Gln was identified in 6 unrelated patients and 2 controls while p.Val35Ile, a novel change, was found only in 2 unrelated patients. A SNP (rs7517357) was observed to be moderately associated with increased risk of PD (p < 0.05). The deletion allele (g.168–185del) of a known 18 bp del/ins/dup polymorphism was found to be over represented (p < 0.05) among older patients (> 40 years) compared to the controls (> 45 years). Two of the patients, also heterozygotes for PINK1 mutation, had more severe disease phenotypes, consistent with the reported interaction between PINK1 and DJ-1 gene products [19]. Our results demonstrate that up to 3.9% (12/308) of PD patients of eastern India harbor DJ-1 variants that should be explored further for any causal relationship with PD.
8
De Marco EV, Annesi G, Tarantino P, Nicoletti G, Civitelli D, Messina D, Annesi F, Arabia G, Salsone M, Condino F, Novellino F, Provenzano G, Rocca FE, Colica C, Morelli M, Scornaienchi V, Greco V, Giofrè L, Quattrone A. DJ‐1 is a Parkinson's disease susceptibility gene in southern Italy.
9
To date, 11 gene loci that contribute to familial Parkinson's disease (PD) are known. Of these, mutations in six genes have been identified, allowing genetic testing and more accurate …
10
To date, 11 gene loci that contribute to familial Parkinson's disease (PD) are known. Of these, mutations in six genes have been identified, allowing genetic testing and more accurate phenotypic characterization of genetically defined disease subtypes. In particular, mutations in Parkin, DJ-1, and Pink1 genes are associated with autosomal recessive PD and may also play a major role in early onset PD (EOPD). However, genetic testing for sequence alterations in these genes remains laborious. Therefore, our aim was to develop a flexible, rapid, high-throughput screening procedure using matrix-assisted laser desorption ionization/time of flight technology and homogeneous mass cleave assays. Using this novel approach, we screened all 27 coding exons of the Parkin, DJ-1, and Pink1 genes in 31 patients with EOPD, a total of 367,195 nucleotides. Four positive controls with known autosomal recessive PD mutations that had previously been screened by denaturing high performance liquid chromatography in combination with sequencing were also tested. All known alterations were detected by matrix-assisted laser desorption ionization/time of flight mass spectrometer, as well as additional polymorphisms in formerly unscreened regions. Overall, two previously described mutations in three patients with EOPD, 27 known polymorphisms with 386 occurrences, and eight unknown variants with 21 occurrences were detected. In total, we identified 410 sequence alterations in 31 patients with EOPD. In conclusion, this is the first study using matrix-assisted laser desorption ionization/time of flight mass spectrometry and homogeneous mass cleave assay for high-throughput mutation screening.
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