scholarly journals SGCD a Novel Candidate Gene for Age-Related Macular Degeneration

2018 ◽  
Author(s):  
Andric Christopher Perez-Ortiz ◽  
Alexandra Luna-Angulo ◽  
Juan Carlos Zenteno ◽  
Alvaro Rendon ◽  
Liliana Guadalupe Cortes-Ballinas ◽  
...  
Keyword(s):  
Case Control Study ◽  
Retinal Disease ◽  
Case Control ◽  
Geographic Atrophy ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Age Related ◽  
Increased Risk ◽  
History Of ◽  
Control Study

1) Background: CFH and HTRA1 genes are traditional markers of increased risk of AMD across populations. Recent findings suggest that additional genes, for instance, in the dystrophin-associated protein complex might be promising markers for AMD. 2) Methods: Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of 134 cases with 134 unpaired controls. Cases were 60 years or older (CARMS grade 4-5, as assessed by experienced ophthalmologists following the AAO guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or RPE changes on fundus exam and negative family history of AMD. We examined SNPs in the SGCD gene: rs931798, rs140617, rs140616, and rs970476 by sequencing and RT-PCR. Genotyping quality check and univariate analyses were performed with PLINK v.1.9. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. 3) Results: After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% (1.81, 95%CI 1.06-3.14, p=0.031), especially the geographic atrophy phenotype (1.82, 95%CI 1.03-3.21, p=0.038) compared to the G/G homozygous. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (Adjusted OR 0.13, 95%CI 0.02-0.91, p=0.041). 4) Conclusions: SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted.

scholarly journals Significant Association Between Variant in SGCD and Age-Related Macular Degeneration

Genes ◽  
2018 ◽  
Vol 9 (10) ◽  
pp. 467 ◽  
Author(s):  
Andric Christopher Perez-Ortiz ◽  
Alexandra Luna-Angulo ◽  
Juan Carlos Zenteno ◽  
Alvaro Rendon ◽  
Liliana Guadalupe Cortes-Ballinas ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Case Control Study ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Case Control ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Increased Risk ◽  
History Of ◽  
Control Study

CFH and HTRA1 genes are traditional markers of increased risk of age-related macular degeneration (AMD) across populations. Recent findings suggest that additional genes—for instance, in the dystrophin-associated protein complex—might be promising markers for AMD. Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of an under-studied population from Hispanics in Mexico City, with 134 cases with 134 unpaired controls. Cases were 60 years or older (Clinical Age-Related Maculopathy Staging (CARMS) grade 4–5, as assessed by experienced ophthalmologists following the American Association of Ophthalmology (AAO) guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or retinal pigment epithelium (RPE) changes on a fundus exam and a negative family history of AMD. We examined SNPs in the SGCD gene (rs931798, rs140617, rs140616, and rs970476) by sequencing and real-time PCR. Genotyping quality checks and univariate analyses were performed with PLINK v1.90b3.42. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% of cases (1.81; 95% CI 1.06–3.14; p = 0.031), especially the geographic atrophy phenotype (1.82; 95% CI 1.03–3.21; p = 0.038) compared to the G/G homozygous genotype. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (adjusted odds ratio (OR) 0.13; 95% CI 0.02–0.91; p = 0.041). SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted, especially among other Hispanic ethnicities.

scholarly journals Association Between Age‐Related Macular Degeneration and Risk of Heart Failure: A Population‐Based Nested Case‐Control Study

2021 ◽  
Author(s):  
Chao‐Chien Chang ◽  
Chi‐Hung Huang ◽  
Yu‐Ching Chou ◽  
Jin‐Yin Chang ◽  
Chien‐An Sun
Keyword(s):  
Heart Failure ◽  
Macular Degeneration ◽  
Case Control Study ◽  
Population Based ◽  
Case Control ◽  
Age Related Macular Degeneration ◽  
Age Related ◽  
Increased Risk ◽  
Nested Case Control ◽  
Control Study

Background Heart failure (HF) is a major health problem worldwide because of its high morbidity and mortality. Recently, the role of the microvasculature in HF has gained more attention. Age‐related macular degeneration (AMD) is manifested through geographic atrophy or the development of neovascularization. However, there are limited data on investigations about the association between AMD and HF. The purpose of this study was to examine the association of AMD with the risk of HF in a large population‐based cohort of men and women. Methods and Results A nested case‐control study using Taiwan’s National Health Insurance Research Database was conducted between 2000 and 2012. Newly diagnosed heart failure cases (n=13 721) and matched controls (n=54 884) in the database were recruited. Patients who had ≥2 clinical visits with a diagnosis of AMD at least 1 year before the diagnosis of HF were identified as patients with AMD. Conditional logistic regressions were performed to calculate odds ratios and 95% CIs to assess the association between AMD and risk of HF. AMD was associated with a 1.58‐fold increased risk of HF (95% CI, 1.16–1.87) ( P <0.001) after adjustment for potential confounders. This significant association was evident in both nonexudative and exudative AMD subgroups. Conclusions Our study provides evidence that AMD was associated with an increased risk of HF. Further molecular and pathophysiological studies are needed to clarify the underlying pathophysiological mechanisms behind the association of AMD with HF.

scholarly journals An Analysis of Five TrkB Gene Polymorphisms in Schizophrenia and the Interaction of Its Haplotype with rs6265 BDNF Gene Polymorphism

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Renata Suchanek-Raif ◽  
Paweł Raif ◽  
Małgorzata Kowalczyk ◽  
Monika Paul-Samojedny ◽  
Aleksandra Zielińska ◽  
...  
Keyword(s):  
Family History ◽  
Case Control Study ◽  
Suicide Attempts ◽  
Five Factor Model ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Increased Risk ◽  
Polymorphic Genotype ◽  
History Of ◽  
Control Study

Aim. The BDNF dysfunction in the schizophrenia has been soundly documented. The TrkB gene is a high-affinity receptor of the BDNF that is changed in schizophrenia and mood disorders. The study had two aims: first, to identify whether the five nucleotide polymorphisms (SNPs) in TrkB gene are associated with a diagnosis of schizophrenia; and the latter, if any association exists between the TrkB SNPs and psychopathology, suicide attempts, and family history of schizophrenia in a Caucasian population. Methods. Case-control study (401 patients and 657 healthy controls) was used to examine a predisposition for schizophrenia. The tests for psychopathology, suicide attempts, and family history of schizophrenia were conducted only in patient group. The severity of the schizophrenia was measured using the five-factor model of the PANSS. In addition, the haplotype analysis for both the separate for SNPs of TrkB gene and in combination with the rs6265 SNP BDNF gene was conducted. Results. Our case-control study revealed that the genetic variants of rs10868235 (T/T polymorphic genotype) and rs1387923 (G/G polymorphic genotype) of the TrkB gene were associated with a higher risk of developing schizophrenia in men. However, the A/A wild genotype of rs1387923 was connected with a lower risk for both the development of and the family manifestation of schizophrenia in men. The G polymorphic allele of rs1565445 was associated with an increased risk of suicide in schizophrenia. The tested SNPs of the TrkB gene did not modulate the psychopathology of schizophrenia. The haplotype that was built with five SNPs in the TrkB gene was protective for men, but after joining the rs6265 SNP of the BDNF gene, a haplotype that was protective for women was created.

scholarly journals Suicide in Psychiatric Inpatients— A Case–Control Study

2020 ◽  
Vol 11 ◽  
Author(s):  
Eberhard A. Deisenhammer ◽  
Elisa-Marie Behrndt-Bauer ◽  
Georg Kemmler ◽  
Christian Haring ◽  
Carl Miller
Keyword(s):  
Logistic Regression ◽  
Hospital Stay ◽  
Attempted Suicide ◽  
Case Control Study ◽  
Psychiatric Inpatients ◽  
Case Control ◽  
Increased Risk ◽  
Inpatient Suicide ◽  
History Of ◽  
Control Study

Objective: Psychiatric inpatients constitute a population at considerably increased risk for suicide. Identifying those at imminent risk is still a challenging task for hospital staff. This retrospective case–control study focused on clinical risk factors related to the course of the hospital stay.Method: Inpatient suicide cases were identified by linking the Tyrol Suicide Register with the registers of three psychiatric hospitals in the state. Control subjects were patients who had also been hospitalized in the respective psychiatric unit but had not died by suicide. Matching variables included sex, age, hospital, diagnosis, and admission date. The study period comprised 7 years. Data were analyzed by the appropriate two-sample tests and by logistic regression.Results: A total of 30 inpatient suicide cases and 54 control patients were included. A number of factors differentiated cases from controls; after correction for multiple testing, the following retained significance: history of aborted suicide, history of attempted suicide, history of any suicidal behavior/threats, suicidal ideation continuing during hospitalization, no development of prospective plans, no improvement of mood during the hospital stay, and leaving ward without giving notice. Logistic regression identified the latter three variables and history of attempted suicide as highly significant predictors of inpatient suicide.Conclusions: Preventive measures during hospitalization include thorough assessment of suicidal features, an emphasis on the development of future perspectives, and a review of hospital regulations for patients who want to leave the ward.

scholarly journals Accuracy of a Self-monitoring Test for Identification and Monitoring of Age-related Macular Degeneration: A Diagnostic Case-control Study

2018 ◽  
Vol 12 (1) ◽  
pp. 19-28 ◽  
Author(s):  
Martin K. Schmid ◽  
Livia Faes ◽  
Lucas M. Bachmann ◽  
Michael A. Thiel
Keyword(s):  
Diagnostic Accuracy ◽  
Case Control Study ◽  
Case Control ◽  
Age Related Macular Degeneration ◽  
Index Test ◽  
Vernier Acuity ◽  
Self Monitoring ◽  
Age Related ◽  
Control Study ◽  
Wet Amd

Objective: To evaluate diagnostic accuracy of a new self-monitoring device using a Vernier hyperacuity alignment task. Method: A total of 11 wet Age-Related Macular Degeneration (AMD) patients and 9 controls contributing 37 eyes were consecutively enrolled into this prospective diagnostic case-control study at the retina centre of the Cantonal Hospital Lucerne, Switzerland. Vernier acuity testing (index test) and Optical Coherence Tomography (OCT, reference test) were performed in all participants. OCT scans were evaluated and graded by a retinal specialist masked to diagnosis and index test results. Candidate parameters of the index test to be used as the diagnostic statistic were identified using a bootstrap procedure. Ten parameters remaining were further assessed in univariate analyses. The overall Standard Deviation (SD) of absolute distances across all four axes of the Vernier acuity test provided the highest area under the Receiver Operating Characteristics (ROC) curve and was therefore selected. Results: Mean age of patients with wet AMD was 81.2 years (SD 4.99), mean numbers of letters were 67.4 (SD 14.1). The proportion of women was similar in both groups (controls: 88%, wet AMD: 72%). The area under the ROC curve was 0.87 (95% confidence interval CI: 0.75- 0.99) indicating excellent discrimination. Best accuracy was reached at a cut-off value of 0.64 with a sensitivity of 75% and a specificity of 94%. Conclusion: This diagnostic case-control study of a new screening device for AMD shows acceptable diagnostic accuracy. The promising preliminary data of this study call for further upstream evaluations in reasonably sized clinical studies.

scholarly journals Mitochondrial Haplogroups and Control Region Polymorphisms in Age-Related Macular Degeneration: A Case-Control Study

PLoS ONE ◽  
2012 ◽  
Vol 7 (2) ◽  
pp. e30874 ◽  
Author(s):  
Edith E. Mueller ◽  
Elena Schaier ◽  
Susanne M. Brunner ◽  
Waltraud Eder ◽  
Johannes A. Mayr ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Control Region ◽  
Case Control Study ◽  
Case Control ◽  
Age Related Macular Degeneration ◽  
Mitochondrial Haplogroups ◽  
Age Related ◽  
And Control ◽  
Control Study
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