Analysis of risk allele frequencies of single nucleotide polymorphisms related to open-angle glaucoma in different ethnic groups
نویسندگان
چکیده
Abstract Background The prevalence of open-angle glaucoma (OAG) varies from 0.5% to 7.0% among populations diverse ancestry, suggesting the existence genetic differences. purposes this study were provide insights into causes OAG, which can result in and phenotype differences ancestry for compare allele frequencies intraocular pressure (IOP) elevation-related SNPs OAG Koreans other ethnic groups. Methods We collected data on a total 135 OAG-associated single nucleotide polymorphisms (SNPs) genome-wide association studies (GWAS) catalog. population-level these derived based 1000 Genomes Project Korean Reference Genome Database. used Fisher's exact test assess whether effect at given SNP was significantly enriched or depleted. Results European, American, South Asian showed similar heatmap patterns, while African, East Asian, had distinct patterns. population presented different profiles compared groups; rs1579050 ( FMNL2 gene), rs2024211 CAV2;CAV1 ), rs8141433 GNB1L ; TXNRD2 are known be associated with IOP variation, Americans, Europeans, Africans, depleted Koreans. These candidates causative genes variation according Conclusions Differences related between ethnicities observed, may explain high normal predominantly Asians.
منابع مشابه
Association of Candidate Single Nucleotide Polymorphisms Related to Candidate Genes in Patients With Schizophrenia
Introduction: Schizophrenia is a chronic heterogenic neurodevelopment disorder. Many genes interfere in the development of SCZ. All four genes, NrCAM, PRODH, ANK3, and ANKK1, which were evaluated in this study, were previously reported to be associated with Schizophrenia. The NrCAM contributes to creating cognitive deficiencies through the CAM’s signaling pathway. PRODH plays a vital role in cr...
متن کاملAllele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences
This study was performed to select single nucleotide polymorphisms (SNPs) related to the body burden of heavy metals in Koreans, to provide Korean allele frequencies of selected SNPs, and to assess the difference in allele frequencies with other ethnicities. The candidate-gene approach method and genome-wide association screening were used to select SNPs related to the body burden of heavy meta...
متن کاملallele frequencies of single nucleotide polymorphisms of cytochrome p450 cyp2c8 in an iranian population using taqman genotyping assay
متن کامل
Analysis of functional polymorphisms in apoptosis-related genes in primary open angle glaucoma
PURPOSE Glaucoma is a disease with high heritability in which the degradation of retinal ganglion cells occurs via apoptosis. Therefore, we investigated the role of four functional apoptosis-related gene variants (Akt1 rs1130233, Bax rs4645878, Fas rs223476, and FasL rs763110) in patients with primary open angle glaucoma. METHODS 334 patients with primary open angle glaucoma and 334 controls ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Medical Genomics
سال: 2021
ISSN: ['1755-8794']
DOI: https://doi.org/10.1186/s12920-021-00921-2