Dataset Information

Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.

ABSTRACT:

Aim

To investigate relationship between refractive errors and eleven single nucleotide polymorphisms (SNPs) in HGF, GC, MFN1, GNB4, and VDR genes in Turkish population.

Methods

A group of 212 participants with myopia (n=91), hyperopia (n=45), and emmetropia (n=76) were investigated in this study. SNPs in HGF, GC, MFN1, GNB4 and VDR genes were studied by SnapShot technique.

Results

The patients in this study consists of 47 female/44 male (age: 23.47±4.30) patients with myopia, 20 female/25 male (age: 31.20±8.02) with hyperopia and 33 female/43 male (age: 25.22±6.60) with emmetropia. The genotype distribution of the rs7618348 polymorphism, which was the only statistically significant one between myopia and emmetropia group. The genotype distribution of the rs3819545, rs3735520, rs7041, and rs2239182 polymorphisms, which were statistically significant between hyperopia and emmetropia groups.

Conclusion

The importance of genetic predisposition to refractive errors with respect to etiology of the disease is revealed. It is known that polymorphism studies may differ because of genetic diversity among populations so larger cohort studies are required in different populations to enlighten the etiology of the refractive errors.

SUBMITTER: Unlu N

PROVIDER: S-EPMC8165615 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.

Unlu Nadir N Erzurumluoglu Gokalp Ebru E Arslan Serap S Cilingir Oguz O Bilgin Muzaffer M Yildirim Engin E Gursoy Huseyin H

International journal of ophthalmology 20210618 6

<h4>Aim</h4>To investigate relationship between refractive errors and eleven single nucleotide polymorphisms (SNPs) in <i>HGF, GC, MFN1, GNB4</i>, and <i>VDR</i> genes in Turkish population.<h4>Methods</h4>A group of 212 participants with myopia (<i>n</i>=91), hyperopia (<i>n</i>=45), and emmetropia (<i>n</i>=76) were investigated in this study. SNPs in <i>HGF, GC, MFN1, GNB4</i> and <i>VDR</i> genes were studied by SnapShot technique.<h4>Results</h4>The patients in this study consists of 47 fem ...[more]

PMID: 34150535

Similar Datasets

Project description:BackgroundDyslipidemia is recognized as one of the risk factors of cardiovascular diseases (CVDs), type 2 diabetes mellitus (T2DM), and non-alcoholic fatty liver disease (NAFLD).ObjectiveThe study aimed to investigate the association between selected single nucleotide polymorphisms (SNPs) with dyslipidemia and increased susceptibility risks of CVD, NAFLD, and/or T2DM in dyslipidemia patients in comparison with healthy control individuals from the Qatar genome project.MethodsA community-based cross-sectional study was conducted among 2933 adults (859 dyslipidemia patients and 2074 healthy control individuals) from April to December 2021 to investigate the association between 331 selected SNPs with dyslipidemia and increased susceptibility risks of CVD, NAFLD and/or T2DM, and covariates.ResultsThe genotypic frequencies of six SNPs were found to be significantly different in dyslipidemia patients subjects compared to the control group among males and females. In males, three SNPs were found to be significant, the rs11172113 in over-dominant model, the rs646776 in recessive and over-dominant models, and the rs1111875 in dominant model. On the other hand, two SNPs were found to be significant in females, including rs2954029 in recessive model, and rs1801251 in dominant and recessive models. The rs17514846 SNP was found for dominant and over-dominant models among males and only the dominant model for females. We found that the six SNPs linked to gender type had an influence in relation to disease susceptibility. When controlling for the four covariates (gender, obesity, hypertension, and diabetes), the difference between dyslipidemia and the control group remained significant for the six variants. Finally, males were three times more likely to have dyslipidemia in comparison with females, hypertension was two times more likely to be present in the dyslipidemia group, and diabetes was six times more likely to be in the dyslipidemia group.ConclusionThe current investigation provides evidence of association for a common SNP to coronary heart disease and suggests a sex-dependent effect and encourage potential therapeutic applications.

Project description:INTRODUCTION: Migraine is a chronic, neurovascular polygenic disease where genetic and environmental factors are involved in its etiology. Dysfunction of neuronal ion transportation can provide a model for predisposition for common forms of migraine. Mutations in genes encoding ion channels disturb the rhythmic function of exposed tissue that may also explain the episodic nature of migraine. Our aim was to study the single nucleotide polymorphisms of CACNA1A gene in migraine patients. MATERIALS AND METHODS: The subjects were the patients of migraine, in the age range of 18-80 years, diagnosed by a Neurologist, as per the diagnostic criteria of International Headache Society (IHS) Classification 2004 after excluding other causes of headache by clinical examination and relevant investigations. The controls were the age and sex matched healthy persons from the same population excluding the relatives of patients. Only those patients and the controls, who voluntarily participated in the study, were taken and their blood samples were taken for the study. Deoxyribonucleic acid (DNA) extraction was performed according to the manufacturer's protocol for Qiagen DNA extraction kits (Qiagen, Hilden, NRW, Germany). DNA content was quantified by spectrophotometric absorption (Nanodrop Spectrophotometer, BioLab, Scoresby, VIC, Australia). Polymerase chain reaction was performed using an iCycler Thermal Cycler (Bio.Rad, Hercules, CA, USA). The polymorphic analysis of CACNA1A gene was carried out by two methods: Restriction fragment length polymorphism and sequencing. RESULTS: The study included a total of 25 patients of migraine, diagnosed on out-patient department basis as per IHS Classification 2004 and compared with age and sex matched 25 healthy controls. Most of the patients 23 (92%) were below the age of 50 years. 20 of the patients (80%) were females and 5 (20%) were males. The polymorphic analysis of CACNA1A gene revealed the presence of only the wild form of the gene for the codon E993V in both case and control groups. CONCLUSION: In our study, we could not find any polymorphism of CACNA1A gene in the selected patients. Instead the wild type of genotype was found in both patients and controls. This negative result presented here, implies that if the CACNA1A gene is involved in typical migraine (with and without aura), its contribution is very modest and therefore difficult to discern. Nevertheless, there are other genes that could be considered potential candidates for typical migraine susceptibility for which further research is needed.

Dataset Information

Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.

Aim

Methods

Results

Conclusion

Publications

Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets