Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy

Central serous chorioretinopathy (CSC) is a chorioretinal disease that usually affects the middle-aged population and is characterised by a thickened choroid, retinal pigment epithelium detachment, and subretinal fluid with a tendency towards spontaneous resolution. We investigated 13 single-nucleotide polymorphisms (SNPs) in 50 Slovenian acute CSC patients and 71 healthy controls in Complement Factor H (CFH), Nuclear Receptor Subfamily 3 Group C Member 2 (NR3C2), Cadherin 5 (CDH5) Age-Related Maculopathy Susceptibility 2 (ARMS2), TNF Receptor Superfamily Member 10a (TNFRSF10A), collagen IV alpha 3 (COL4A3) and collagen IV alpha 4 (COL4A4) genes using high-resolution melt analysis. Statistical calculations revealed significant differences in genotype frequencies for CFH rs1329428 (p = 0.042) between investigated groups and an increased risk for CSC in patients with TC (p = 0.040) and TT (p = 0.034) genotype. Genotype–phenotype correlation analysis revealed that CSC patients with CC genotype in CFH rs3753394 showed a higher tendency for spontaneous CSC episode resolution at 3 months from the disease onset (p = 0.0078), which could indicate clinical significance of SNP testing in CSC patients. Bioinformatics analysis of the non-coding polymorphisms showed alterations in transcription factor binding motifs for CFH rs3753394, CDH5 rs7499886 and TNFRSF10A rs13278062. No association of collagen IV polymorphisms with CSC was found in this study.

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Association of Central Serous Chorioretinopathy with single-nucleotide polymorphisms in Complement Factor H Gene in a Chinese population

10.21203/rs.2.11402/v1 ◽

2019 ◽

Author(s):

dandan linghu ◽

hui xu ◽

yu cao ◽

jinfeng qu ◽

enzhong jin ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Central Serous Chorioretinopathy ◽

Chinese Population ◽

Meta Analysis ◽

Factor H ◽

Complement Factor H ◽

Complement Factor ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Department Of Ophthalmology

Abstract Background: To analyze the association between central serous chorioretinopathy (CSCR) and single-nucleotide polymorphisms in the complement factor H (CFH) gene in patients of Chinese descent. Methods: 437 CSCR patients and 510 controls were enrolled from the Department of Ophthalmology, People's Hospital of Peking University. We genotyped each patient for six single-nucleotide polymorphism (SNP) markers in CFH (rs800292, rs1061170, rs3753396, rs2284664, rs1329428, and rs1065489), and assessed each SNP's associations with CSCR. We also performed a meta-analysis of CFH SNPs associations with CSCR. Results: In our Chinese population sample, two CFH SNPs—rs800292 and rs1065489—were significantly associated with CSCR. We found that rs800292 had the strongest association, and rs1065489 had the second strongest association. From a meta-analysis of all existing case-control studies on CFH SNPs and CSCR, we also found significant associations between CFH SNPs rs1329428, rs1065489, rs2284664, and rs800292, and CSCR. Conclusions: Our results show a significant association between CSCR and two SNPs in the CFH gene, rs800292 and rs1065489, in a Chinese population. These findings suggest a role for CFH in CSCR pathogenesis. Further investigation into how CFH contributes to CSCR will improve our understanding of CSCR, and of CFH as a potential therapeutic target.

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Association of central serous chorioretinopathy with single nucleotide polymorphisms in complement factor H gene in Iranian population

Eye ◽

10.1038/s41433-021-01579-x ◽

2021 ◽

Author(s):

Reza Karkhaneh ◽

Mohsen Toufighi ◽

Akbar Amirfiroozy ◽

Aliasghar Ahmad-Raji ◽

Oveis Ahmadzadeh ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Central Serous Chorioretinopathy ◽

Factor H ◽

Iranian Population ◽

Complement Factor H ◽

Complement Factor ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

H Gene

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Susceptible Single Nucleotide Polymorphisms in Exon 10 and Intron 9 of Complement Factor H Gene in Patients With Age-related Macular Degeneration

Research in Molecular Medicine ◽

10.32598/rmm.9.1.7 ◽

2021 ◽

Vol 9 (1) ◽

pp. 60-70

Author(s):

Zahrasoheila Soheili ◽

◽

Hamid Ahmadieh ◽

Siamak Moradian ◽

Shahram Samiee ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Macular Degeneration ◽

Factor H ◽

Age Related Macular Degeneration ◽

Silent Mutation ◽

Complement Factor ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Age Related ◽

Exon 10

Background: Age-related macular degeneration (AMD) is the leading cause of vision loss in the elderly. Although it has been shown that Y402H polymorphism in the CFH gene was strongly associated with AMD in the Iranian population, there were no data on other single nucleotide polymorphisms (SNPs), which have the most significant association with AMD. This study aimed to investigate hot point regions in exon 10 and intron 9. Materials and Methods: One hundred and sixty-six AMD patients and 69 controls were recruited. Their blood was collected in the tubes containing EDTA. Then, DNA was extracted from the blood, and its quality was evaluated. Primers were designed for intron 9 and exon10 sequencing. A viral polymorphisms analysis software named CEQ was used for the analysis of putative polymorphisms. Results: We noticed three polymorphisms in study cases: rs7535263 and C66379A in intron 9 and rs2274700 in exon 10. Based on the McNamara’s test (rs7535263 and rs2274700) and the Phi and Cramer’s test (C66379A), a significant difference was found between the control and patient groups regarding rs7535263 and rs2274700 polymorphisms. Conclusion: We found a synonymous or silent mutation, A473A, rs2274700 in exon 10 in 85% of patients. From two intronic SNPs, just rs7535263 showed association with the disease in studied patients living in Gilan Province, Iran. Although no significant relationship was found between controls and patients regarding the C66379A allele, it would be important that no other sources have reported C66379A polymorphism in AMD yet.

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Secondary Focal and Segmental Glomerulosclerosis Associated With Single-Nucleotide Polymorphisms in the Genes Encoding Complement Factor H and C3

American Journal of Kidney Diseases ◽

10.1053/j.ajkd.2012.04.011 ◽

2012 ◽

Vol 60 (2) ◽

pp. 316-321 ◽

Cited By ~ 25

Author(s):

Sanjeev Sethi ◽

Fernando C. Fervenza ◽

Yuzhou Zhang ◽

Richard J.H. Smith

Keyword(s):

Single Nucleotide Polymorphisms ◽

Factor H ◽

Complement Factor H ◽

Complement Factor ◽

Nucleotide Polymorphisms ◽

Focal And Segmental Glomerulosclerosis ◽

Single Nucleotide ◽

Segmental Glomerulosclerosis ◽

Genes Encoding

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Single Nucleotide Polymorphisms inmiR-122Are Associated with the Risk of Hepatocellular Carcinoma in a Southern Chinese Population

BioMed Research International ◽

10.1155/2018/1540201 ◽

2018 ◽

Vol 2018 ◽

pp. 1-6 ◽

Cited By ~ 4

Author(s):

Chunhua Bei ◽

Shun Liu ◽

Xiangyuan Yu ◽

Moqin Qiu ◽

Bo Tang ◽

...

Keyword(s):

Hepatocellular Carcinoma ◽

Single Nucleotide Polymorphisms ◽

Chinese Population ◽

Target Genes ◽

Risk Group ◽

High Risk Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Southern Chinese ◽

Increased Risk

Single nucleotide polymorphisms (SNPs) in microRNA may affect its expression and regulation of target genes, which may consequently alter individual susceptibility to cancer. In this study we aimed to investigate associations betweenmiR-122polymorphisms and hepatocellular carcinoma (HCC) in a southern Chinese population. Three selected SNPs inmiR-122(rs9966765, rs1135519, and rs17669) were genotyped in 1050 HCC patients and 1079 cancer-free controls using Sequenom MassARRAY platform and the associations of the three SNPs and HCC risk were evaluated. We found that individuals with the rs1135519 CC genotypes had a significant increased risk of HCC than those with TT genotypes (adjusted OR=2.71, 95% CI=1.15-6.36, andP=0.022), while the rs9966765 CC genotypes showed a borderline significant association with increased risk of HCC when compared with the GG genotypes (adjusted OR=2.38, 95% CI=0.99-5.75, andP=0.052). There was also a significant increased risk of HCC when combining risk genotypes of these loci, i.e., rs1135519 CC and rs9966765 CC. Compared with the low-risk group (0 risk genotype), the high risk group (1-2 risk genotypes) had significantly increased risk of HCC (OR=1.61, 95% CI=1.05-2.44, andP=0.028). Further genotype-expression analysis revealed that cases carrying the CC genotype of rs1135519 had lower levels ofmiR-122expression than those with the TT genotype. Our results suggest that SNP of rs1135519 modulatesmiR-122expression and contributes to the genetic susceptibility of HCC, either independently or together with rs9966765 inmiR-122.Further well-designed studies with lager sample sizes are needed to confirm our findings.

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Correlation between miRNA target site polymorphisms in the 3′ UTR of AVPR1A and the risk of hypertension in the Chinese Han population

Bioscience Reports ◽

10.1042/bsr20182232 ◽

2019 ◽

Vol 39 (5) ◽

Cited By ~ 1

Author(s):

Liuping Zhang ◽

Jinwei Liu ◽

Peng Cheng ◽

Fangchao Lv

Keyword(s):

Single Nucleotide Polymorphisms ◽

Mirna Target ◽

Direct Sequencing ◽

Chinese Han Population ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Increased Risk

Abstract We aimed to study the relationship between rs11174811 and rs3803107 single nucleotide polymorphisms (SNPs) in miRNA target sites of the 3′ UTR in the arginine vasopressin receptor 1a gene (AVPR1A) and the risk of hypertension in the Chinese Han population. The genotypes at rs11174811 and rs3803107 were analyzed by direct sequencing in 425 Chinese Han patients with hypertension and 425 healthy subjects. AVPR1A expression was investigated by transfecting miR-526b, miR-375, and miR-186 mimics into human umbilical vein endothelial cells (HUVECs) containing AVPR1A rs11174811 CC, CA/AA and AVPR1A rs3803107 GG, GA/AA genotypes. The A alleles of rs11174811 (adjusted OR = 1.424, 95% CI: 1.231–1.599, P<0.001) and rs3803107 (adjusted OR = 1.222, 95% CI: 1.092–1.355; P=0.001) were high risk factors for hypertension. Plasma levels of miR-526b, miR-375, and miR-186 were higher in the study group than in the control group (P<0.001). The expression levels of AVPR1A mRNA in AVPR1A rs11174811 and rs3803107 mutant HUVECs were higher than those in wild-type cells (t = 8.811, 4.068 and P=0.001, 0.015, respectively). The single nucleotide polymorphisms rs11174811 and rs3803107 in the AVPR1A gene are associated with an increased risk of hypertension in the Chinese Han population. This may be related to the effect of these variants on the regulation of AVPR1A expression by miRNAs.

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Candidate single nucleotide polymorphisms of irritable bowel syndrome: a systemic review and meta-analysis

BMC Gastroenterology ◽

10.1186/s12876-019-1084-z ◽

2019 ◽

Vol 19 (1) ◽

Cited By ~ 3

Author(s):

Shiwei Zhu ◽

Ben Wang ◽

Qiong Jia ◽

Liping Duan

Keyword(s):

Irritable Bowel Syndrome ◽

Single Nucleotide Polymorphisms ◽

Meta Analysis ◽

Systemic Review ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Genetic Studies ◽

Increased Risk ◽

Rome Iii ◽

Irritable Bowel

Abstract Background Genetic factors increase the risk of irritable bowel syndrome (IBS). Analysis of single nucleotide polymorphisms (SNPs) has been used in IBS patients, but the findings are inconsistent. The goal of this review was to synthesize all the published SNPs studies of IBS through meta-analysis to objectively evaluate the relevance of SNPs to IBS risks. Methods IBS - related polymorphisms studies from 2000 to 2018 were searched. Pooled odds ratios with a 95% confidence interval for each SNP were evaluated through five genetic models. Ethnicity, ROME criteria and IBS subtypes were defined for subgroup analyze. Results Ten relevant genes were evaluated. SNPs rs4263839 and rs6478108 of TNFSF15 associated with an increased risk of IBS; IL6 rs1800795 increased the risk for Caucasian IBS patients which diagnosed by Rome III criteria; and IL23R rs11465804 increased the risk for IBS-C patients. IL10 rs1800896 GG genotype associated with a decreased risk of IBS. No evidence supported the association of GNβ3 rs5443, TNFα rs1800629, and IL10 rs1800871 to IBS in this study. Conclusions This meta-analysis presents an in-depth overview for IBS SNPs analysis. It was confirmed that polymorphisms of TNFSF15 associated with increased IBS risk, while IL10 rs1800896 associated with decreased IBS risk. It might offer some insights into polymorphisms of inflammation factors which might affect IBS susceptibility. Moreover, the analysis also emphasizes the importance of diagnostic criteria and phenotype homogeneity in IBS genetic studies.

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