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Comparison of risk allele frequencies of single nucleotide polymorphisms associated with age-related macular degeneration in different ethnic groups
BackgroundThe prevalence of age-related macular degeneration (AMD) varies from 6.8 to 18.3% for all forms of AMD and from 0.6 to 2.6% for late AMD...
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Identification of the efficacy of parentage testing based on bi-allelic autosomal single nucleotide polymorphism markers in Taiwanese population
Parentage testing is crucial for forensic DNA analysis, using short tandem repeats (STRs). Single nucleotide polymorphisms (SNPs) with high minor...
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SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility
The present study aimed at identifying the genetic mutation responsible for teratozoospermic infertility in a case with coiled sperm tails. A...
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Variants of ERCC5 and the outcome of platinum-based regimens in non-small cell lung cancer: a prospective cohort study
Excision repair complementary complex 5 (ERCC5) is an important component in the repair pathway of platinum-induced damage. The current study...
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Study of variants associated with ventricular septal defects (VSDs) highlights the unique genetic structure of the Pakistani population
BackgroundVentricular septal defects (VSDs) are one of the leading causes of death due to cardiac anomalies during the first months of life. The...
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Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center
Most of the heritability in frontotemporal dementia (FTD) is accounted for by autosomal dominant hexanucleotide expansion in the chromosome 9 open...
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Genetic association analysis of rs662799 ( − 1131A > G) polymorphism of APOA5 gene with morphometric and physio-metric traits using multiplex PCR
BackgroundThe apolipoprotein A5 ( APOA5 ) gene, significantly expressed in liver, has been involved in regulation of triglyceride metabolism, plasma...
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Polymorphism in interferon alpha/beta receptor contributes to glucocorticoid response and outcome of ARDS and COVID-19
BackgroundThe use of glucocorticoids has given contradictory results for treating acute respiratory distress syndrome (ARDS). The use of intravenous...
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The Pacific-specific CREBRF rs373863828 allele protects against gestational diabetes mellitus in Māori and Pacific women with obesity
Aims/hypothesisThe CREBRF rs373863828 minor (A) allele is associated with increased BMI but reduced prevalence of type 2 diabetes in Māori and...
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Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea
PurposeVitamin D deficiency has been associated with the occurrence of obstructive sleep apnea syndrome (OSAS). Megalin ( LRP2 ) and cubilin ( CUBN) ...
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Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution
BackgroundCases of gastrointestinal (GI) neoplastic polyps in Jack Russell Terriers (JRTs) have increased in Japan since the late 2000s. We recently...
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Identification of low-frequency variants of UGT1A3 associated with bladder cancer risk by next-generation sequencing
Although genome-wide association studies (GWASs) have successfully revealed many common risk variants for bladder cancer, the heritability is still...
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ABCB1 variants and sex affect serotonin transporter occupancy in the brain
Strategies to personalize psychopharmacological treatment promise to improve efficacy and tolerability. We measured serotonin transporter occupancy...
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Ultra-rare and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophrenia
Both common and rare genetic variants (minor allele frequency >1% and <0.1% respectively) have been implicated in the aetiology of schizophrenia. In...
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The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
BackgroundNon-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation...
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The association of dietary fibre intake and the IL13 rs20541 polymorphism with the risk of gastric cancer: a case-control study in Korea
BackgroundThe beneficial effect of fibre intake on reducing the risk of gastric cancer (GC) has been emphasized in recent years; however, the...
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Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population
Study objectivesRecently, IMPDH2 has been linked to dystonia. However, no replication study from other cohorts has been conducted to confirm the...
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Circulating miRNAs and their functional genetic variants in pseudoexfoliative glaucoma: potential of miR-146a-5p as a diagnostic biomarker
PurposeThe etiology and pathogenesis of pseudoexfoliation syndrome (PEX) and its advancement into pseudoexfoliative glaucoma (PEG) are not fully...
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Association of polymorphisms in the erythropoietin gene with diabetic retinopathy: a case–control study and systematic review with meta-analysis
BackgroundDiabetic retinopathy (DR) is characterized by ischemia, hypoxia, and angiogenesis. Erythropoietin (EPO), an angiogenic hormone, is...
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Toll-like receptor 10 gene polymorphism and risk of multiple sclerosis among Iraqi patients
BackgroundToll-like receptors (TLRs) are a family of 10 pattern recognition receptors (TLR1–TLR10) involved in the regulation of inflammatory and...
