Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase Influenced the Age Onset of Parkinson’s Disease

Aims Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson’s disease (PD). The first rate-limiting enzymes indoleamine 2,3- dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) has been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. Main methods SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. Key findings No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. Significance The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

Download Full-text

Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase 1 Influenced the Age Onset of Parkinson’s Disease

10.20944/preprints202009.0470.v1 ◽

2020 ◽

Cited By ~ 1

Author(s):

Nóra Török ◽

Rita Maszlag-Török ◽

Kinga Molnár ◽

Zoltán Szolnoki ◽

Ferenc Somogyvári ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Subgroup Analysis ◽

Snp Analysis ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Allelic Discrimination Assay ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Indoleamine 2,3 Dioxygenase ◽

Tryptophan Dioxygenase

Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson’s disease (PD). The first rate-limiting enzymes indoleamine 2,3-dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) have been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

Download Full-text

Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase Influenced the Age Onset of Parkinson’s Disease

10.20944/preprints202010.0172.v1 ◽

2020 ◽

Cited By ~ 1

Author(s):

Nóra Török ◽

Rita Maszlag-Török ◽

Kinga Molnár ◽

Zoltán Szolnoki ◽

Ferenc Somogyvári ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Subgroup Analysis ◽

Snp Analysis ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Allelic Discrimination Assay ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Indoleamine 2,3 Dioxygenase ◽

Tryptophan Dioxygenase

Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson’s disease (PD). The first rate-limiting enzymes indoleamine 2,3-dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) has been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

Download Full-text

ADIPOQ single nucleotide polymorphisms and breast cancer in northeastern Mexican women

BMC Medical Genetics ◽

10.1186/s12881-020-01125-8 ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Ricardo M. Cerda-Flores ◽

Karen Paola Camarillo-Cárdenas ◽

Gabriela Gutiérrez-Orozco ◽

Mónica Patricia Villarreal-Vela ◽

Raquel Garza-Guajardo ◽

...

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

Mexican Women ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Allelic Discrimination Assay ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Significant Difference ◽

Hardy Weinberg Equilibrium

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.

Download Full-text

Association of Interleukin-10 gene polymorphisms with ankylosing spondylitis

Clinical & Investigative Medicine ◽

10.25011/cim.v34i6.15898 ◽

2011 ◽

Vol 34 (6) ◽

pp. 370 ◽

Cited By ~ 7

Author(s):

Chengyu Lv ◽

Yingzheng Wang ◽

Jinqin Wang ◽

Haining Zhang ◽

Hao Xu ◽

...

Keyword(s):

Ankylosing Spondylitis ◽

Single Nucleotide Polymorphisms ◽

Odds Ratio ◽

Serum Levels ◽

Interleukin 10 ◽

Enzyme Linked Immunosorbent Assay ◽

Snp Analysis ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

Objective: Genetic polymorphisms of the Interleukin-10 (IL-10) promoter have been implicated in several autoimmune diseases, including seronegative spondyloarthropathies. This study investigated whether single nucleotide polymorphisms (SNPs) and haplotypes of IL-10 are associated with ankylosing spondylitis (AS), a common subtype of spondyloarthritis (SpA). Methods: The serum levels of IL-10 were measured with an enzyme-linked immunosorbent assay (ELISA). The single nucleotide polymorphisms (SNPs) at positions -1082A/G, -819C/T and -592C/A in the IL-10 gene promoter were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: 110 AS patients and 120 ethnic-matched healthy controls were included in this study. The serum levels of IL-10 were significantly higher in AS patients than healthy controls (Z=-10.9, P < 0.001). Single SNP analysis showed no significant differences in the allelic and genotypic frequencies of -592A/C between the AS patients and healthy controls. No -1082GG genotype was found in this study. An increased frequency of -1082G allele was noted in AS patients (P=0.047). In a logistic regression analysis, the -1082AG genotype was associated with an odds ratio of 1.993 (95%CI, 1.046-3.800, P=0.034) for AS. And the -819CC genotype was associated with an odds ratio of 3.125 (95%CI, 1.246-7.836, P=0.015) for AS. Furthermore, haplotype analysis revealed that GCC haplotype was associated with a significantly increased risk of AS as compared with the ATA haplotype (OR=2.19; 95% CI, 1.13-4.26; P=0.02). Conclusion: Our results indicate that the gene haplotype of IL-10 can contribute to the susceptibility to AS in a Chinese population.

Download Full-text

Single-Nucleotide Polymorphisms in Oxidative Stress-Related Genes and the Risk of a Stroke in a Polish Population—A Preliminary Study

Brain Sciences ◽

10.3390/brainsci11030391 ◽

2021 ◽

Vol 11 (3) ◽

pp. 391

Author(s):

Ewelina Synowiec ◽

Paulina Wigner ◽

Natalia Cichon ◽

Cezary Watala ◽

Piotr Czarny ◽

...

Keyword(s):

Oxidative Stress ◽

Single Nucleotide Polymorphisms ◽

Polish Population ◽

Nucleotide Polymorphisms ◽

Allelic Discrimination Assay ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Potential Association ◽

Stress Related Genes ◽

Control Study

The present preliminary case-control study was undertaken to detect the potential association of six single nucleotide polymorphisms (SNPs) in oxidative stress-related genes: SOD2 (c.47T > C; rs4880), CAT (c.-89A > T; rs7943316), GPX4 (c.660T > A; rs713041), NOS1 (g.117803515C > T; rs1879417) and NOS2 (c.1823C > T; rs2297518 and c.-227G > C; rs10459953) and the occurrence of a stroke. The SNPs were determined using the TaqMan® Allelic Discrimination Assay in 107 patients with strokes and 107 age- and sex-matched individuals who had not experienced cerebrovascular accidents. The T alleles of the rs4880 were positively correlated with a stroke (bootstrap OR 1.31; 1.07–1.59 95% CI). In the case of the rs713041, an association with the T allele was found (bootstrap OR 1.36; 1.12–1.67). In addition, the occurrence of a stroke was associated with the presence of the C allele of the rs1879417 (bootstrap OR 1.32; 1.09–1.61). We also found that the C/C genotype and C allele of the rs2297518 increased the risk of a stroke (bootstrap ORs 7.00; 4.34–11.29 and 4.96; 3.88–6.34, respectively). Moreover, the C allele of the rs10459953 was associated with an increased occurrence of this disease (bootstrap OR 1.31; 1.08–1.60). These results indicated that genetics variants in the SOD2, GPX4, NOS1 and NOS2 might be associated with susceptibility to strokes in the Polish population.

Download Full-text

High-Throughput Genotyping with Single Nucleotide Polymorphisms

Genome Research ◽

10.1101/gr.157801 ◽

2001 ◽

Vol 11 (7) ◽

pp. 1262-1268

Author(s):

Koustubh Ranade ◽

Mau-Song Chang ◽

Chih-Tai Ting ◽

Dee Pei ◽

Chin-Fu Hsiao ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

High Throughput ◽

Large Scale ◽

Association Studies ◽

Nucleotide Polymorphisms ◽

Allelic Discrimination Assay ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Oxide Synthase ◽

Endothelial Nitric Oxide

To make large-scale association studies a reality, automated high-throughput methods for genotyping with single-nucleotide polymorphisms (SNPs) are needed. We describe PCR conditions that permit the use of the TaqMan or 5′ nuclease allelic discrimination assay for typing large numbers of individuals with any SNP and computational methods that allow genotypes to be assigned automatically. To demonstrate the utility of these methods, we typed >1600 individuals for a G-to-T transversion that results in a glutamate-to-aspartate substitution at position 298 in the endothelial nitric oxide synthase gene, and a G/C polymorphism (newly identified in our laboratory) in intron 8 of the 11–β hydroxylase gene. The genotyping method is accurate—we estimate an error rate of fewer than 1 in 2000 genotypes, rapid—with five 96-well PCR machines, one fluorescent reader, and no automated pipetting, over one thousand genotypes can be generated by one person in one day, and flexible—a new SNP can be tested for association in less than one week. Indeed, large-scale genotyping has been accomplished for 23 other SNPs in 13 different genes using this method. In addition, we identified three “pseudo-SNPs” (WIAF1161, WIAF2566, and WIAF335) that are probably a result of duplication.

Download Full-text

Specific TaqMan allelic discrimination assay for rs1477196 and rs9939609 single nucleotide polymorphisms of FTO gene demonstrated that there is no association between these SNPs and risk of breast cancer in Iranian women

Advanced Biomedical Research ◽

10.4103/2277-9175.161532 ◽

2015 ◽

Vol 4 (1) ◽

pp. 136 ◽

Cited By ~ 5

Author(s):

Mansoor Salehi ◽

Mahboobeh Mojaver ◽

Fariborz Mokarian ◽

Mohammad Kazemi

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Iranian Women ◽

Fto Gene ◽

Allelic Discrimination Assay ◽

Allelic Discrimination ◽

Single Nucleotide ◽

Taqman Allelic Discrimination Assay ◽

Taqman Allelic Discrimination

Download Full-text

Association of body mass index-related single nucleotide polymorphisms with psychiatric disease and memory performance in a Japanese population

Acta Neuropsychiatrica ◽

10.1017/neu.2016.66 ◽

2016 ◽

Vol 29 (5) ◽

pp. 299-308 ◽

Cited By ~ 2

Author(s):

Midori Ninomiya-Baba ◽

Junko Matsuo ◽

Daimei Sasayama ◽

Hiroaki Hori ◽

Toshiya Teraishi ◽

...

Keyword(s):

Body Mass Index ◽

Single Nucleotide Polymorphisms ◽

Japanese Population ◽

Memory Performance ◽

Psychiatric Disease ◽

Psychiatric Diseases ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Poor Memory

ObjectiveObesity is a risk factor for psychiatric diseases. Recently, a number of single nucleotide polymorphisms (SNPs) have been shown to be related to body mass index (BMI). In this study, we investigated the association of BMI-related SNPs with psychiatric diseases and one of their endophenotypes, memory performance, in a Japanese population.MethodsThe subjects were 1624 patients with one of three psychiatric diseases (799 patients with major depressive disorder, 594 with schizophrenia, and 231 with bipolar disorder) and 1189 healthy controls. Memory performance was assessed using the Wechsler Memory Scale – Revised (WMS-R). Genomic DNA was prepared from venous blood and used to genotype 23 BMI-related SNPs using the TaqMan 5′-exonuclease allelic discrimination assay. We then analysed the relationships between the SNPs and psychiatric disease and various subscales of the WMS-R.ResultsThree SNPs (rs11142387, rs12597579, and rs6548238) showed significant differences in the genotype or allele frequency between patients with any psychiatric diseases and controls. Furthermore, six SNPs (rs11142387, rs12597579, rs2815752, rs2074356, rs4776970, and rs2287019) showed significant differences in at least one subscale of the WMS-R depending on the genotypes of the healthy controls. Interestingly, rs11142387 near the Kruppel-like factor 9 (KLF9) was significantly associated with psychiatric disease and poor memory function.ConclusionsWe identified three and six BMI-related SNPs associated with psychiatric disease and memory performance, respectively. In particular, carrying the A allele of rs11142387 near KLF9 was found to be associated with psychiatric disease and poor memory performance, which warrants further investigations.

Download Full-text