Progression of Age-Related Macular Degeneration Among Individuals Homozygous for Risk Alleles on Chromosome 1 (CFH-CFHR5) or Chromosome 10 (ARMS2/HTRA1) or Both
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Ophthalmology"
DOI: 10.1001/jamaophthalmol.2021.6072
Abstract: Key Points Question What are the independent and combined associations of the 2 most common genetic risk loci for age-related macular degeneration (AMD)—chromosomes 1 (CFH-CFHR5) and 10 (ARMS2/HTRA1)—with disease progression? Findings This case series study… read more here.
Keywords: risk alleles; progression; age; arms2 htra1 ... See more keywords
APOL1, Sickle Cell Trait, and Glutathione S-Transferase 1—More Complicated Than It Seems
Sign Up to like & getrecommendations! Published in 2022 at "Kidney International Reports"
DOI: 10.1016/j.ekir.2021.12.036
Abstract: T here are 2 risk alleles at the APOL1 gene (G1 and G2, encoding S342G and I384M substitutions and N388–Y389 deletions, respectively) that account for >70% of the increased risk for nondiabetic chronic kidney disease… read more here.
Keywords: risk; risk alleles; kidney disease; apol1 sickle ... See more keywords
HLA autoimmunity risk alleles influence T cell receptor sequences
Sign Up to like & getrecommendations! Published in 2022 at "Nature Reviews Rheumatology"
DOI: 10.1038/s41584-022-00785-5
Abstract: New research demonstrates that the amino acid composition of the hypervariable CDR3 region of T cell receptors is influenced by the presence of HLA risk alleles for autoimmune disease. read more here.
Keywords: risk alleles; autoimmunity risk; cell; alleles influence ... See more keywords
Melanoma risk alleles are associated with downregulation of the MTAP gene and hypermethylation of a CpG island upstream of the gene in dermal fibroblasts
Sign Up to like & getrecommendations! Published in 2017 at "Experimental Dermatology"
DOI: 10.1111/exd.13247
Abstract: Several association studies and GWAS on melanoma skin cancer risk have reported statistically significant signals on 9p21.3 region, where MTAP gene maps. None of the associated SNPs identified in these studies lie in the coding… read more here.
Keywords: mtap gene; risk alleles; risk; melanoma risk ... See more keywords
Haemophagocytic lymphohistiocytosis with collapsing lupus podocytopathy as an unusual manifestation of systemic lupus erythematosus with APOL1 double-risk alleles
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-227860
Abstract: Haemophagocytic lymphohistiocytosis (HLH) is a potentially life-threatening syndrome caused by excessive immune activation. Secondary HLH has been described in autoimmune diseases. We detail the case of a 28-year-old African American woman who developed HLH in… read more here.
Keywords: risk alleles; systemic lupus; lupus erythematosus; haemophagocytic lymphohistiocytosis ... See more keywords
Obesity-related glomerulopathy in the presence of APOL1 risk alleles
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-249624
Abstract: Nephropathic apolipoprotein L1 (APOL1) risk alleles (G1/G2) have been associated with focal segmental glomerulosclerosis, HIV-associated nephropathy, Systemic lupus erythematosus (SLE)-associated collapsing glomerulopathy and other glomerulonephritides. These alleles confer protection from Trypanosoma brucei infections which are… read more here.
Keywords: apol1; related glomerulopathy; obesity related; risk ... See more keywords
Are minor alleles more likely to be risk alleles?
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genomics"
DOI: 10.1186/s12920-018-0322-5
Abstract: BackgroundGenome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple genetic and environmental factors. Natural selection has led to… read more here.
Keywords: risk alleles; risk; likely risk; risk allele ... See more keywords
HLA Risk Alleles in Aromatic Antiepileptic Drug-Induced Maculopapular Exanthema
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2021.671572
Abstract: To characterize human leukocyte antigen (HLA) loci as risk factors in aromatic antiepileptic drug-induced maculopapular exanthema (AED-MPE). A case-control study was performed to investigate HLA loci involved in AED-MPE in a southern Han Chinese population.… read more here.
Keywords: risk alleles; risk; aed mpe; hla ... See more keywords
Statistical Validation of Risk Alleles in Genetic Addiction Risk Severity (GARS) Test: Early Identification of Risk for Alcohol Use Disorder (AUD) in 74,566 Case–Control Subjects
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12091385
Abstract: Since 1990, when our laboratory published the association of the DRD2 Taq A1 allele and severe alcoholism in JAMA, there has been an explosion of genetic candidate association studies, including GWAS. To develop an accurate… read more here.
Keywords: aud; disorder aud; risk; alcohol use ... See more keywords
Prevalence of risk alleles in the lysyl oxidase-like 1 gene in pseudoexfoliation glaucoma patients in India
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2664_21
Abstract: Purpose: The purpose of this study was to genotype two previously identified SNPs (rs1048661:R141L, and rs3825942:G153D) in the lysyl oxidase-like 1 (LOXL1) gene and determine their association with pseudoexfoliation glaucoma (XFG) in patients from Pune,… read more here.
Keywords: oxidase like; lysyl oxidase; risk; risk alleles ... See more keywords