the variant A allele
The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans
... risk allele(s) encoding the PTPN22 R620W ...risk allele contained high frequencies of autoreactive clones compared with those from non-carriers, revealing defective central and peripheral B cell tolerance ...
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Pri-let-7a-1 rs10739971 polymorphism is associated with gastric cancer prognosis and might affect mature let-7a expression
... the variant A allele demonstrated longer ...G allele has a loose secondary structure, which may not be conductive to miRNA maturation, leading to a shorter survival time of GC patients who carry the ...
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Associations between Single Nucleotide Polymorphisms of High Mobility Group Box 1 Protein and Clinical Outcomes in Korean Sepsis Patients
... the variant A allele of the rs1045411 polymorphism was associated with higher positive blood cul- ture rates and elevated cytokine levels, particularly in patients with chronic lung diseases or diabetes as ...
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Quantitative assessment of polymorphisms in H19 lncRNA and cancer risk: a meta-analysis of 13,392 cases and 18,893 controls
... the variant T allele of rs2107425 correlated with a significantly decreased risk of developing cancer (dominant model: OR = ...the variant A allele of rs2839698 exhibited a significantly ...
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Detection of selective sweeps in structured populations : a comparison of recent methods
... Figure Legends Figure 1: Results for the island model: a trace of the allele frequency of the selected variant in the selected population, Y, and in a neutral population, Z with migratio[r] ...
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Best practices for bioinformatic characterization of neoantigens for clinical utility
... frequency variant detec- tion, distinguishing germline variants from tumor in normal contamination, and removing sequencing artifacts—have been addressed by the variant callers discussed ...low ...
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A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis
... G1 variant in 4 of our subjects and in 7 of the subjects in our follow-up set, as it is rare in non-African ...this variant in 11 of 208 of our non-African subjects suggests that this particular ...
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Differential urinary specific gravity as a molecular phenotype of the bladder cancer genetic association in the urea transporter gene, SLC14A1.
... genetic variant (rs10775480) of SLC14A1 and urine concentration, as measured by urinary specific gravity (USG), in a subset of 275 population-based controls enrolled in the New England Bladder Cancer ...T ...
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Influence of SLCO1B1 and CYP2C8gene polymorphisms on rosiglitazone pharmacokinetics in healthy volunteers
... a variant SLCO1B1 521C allele have increased plasma concentrations of certain OATP1B1 substrates (eg pravastatin and repaglinide), compared with subjects who are wild- type ...
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The C1431T polymorphism of peroxisome proliferator activated receptor γ (PPARγ) is associated with low risk of diabetes in a Pakistani cohort
... the allele and genotype fre- quencies of PPARγ gene C1431T polymorphism that is well studied in the Caucasians but no report on this variant is available for the Pakistani ...
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High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
... missense variant p.Cys948Tyr is also the most frequent disease allele in Spanish LCA patients, representing 31% of total alleles, but not in Belgium being less prevalent with a frequency of 23% ...recurrent ...
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Riboflavin status modifies the effects of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms on homocysteine
... the variant enzymes on ...The variant MTHFR 677T allele codes for an enzyme with lower affinity than the wild-type enzyme for its flavin cofactor (Yamada et ...the variant enzyme is overcome ...
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SNPfisher: tools for probing genetic variation in laboratory reared zebrafish
... SNPfisher Variant Reporter tool, which provides the genomic position, alternate allele read frequency, strain specificity, restriction enzyme recognition site changes and flanking primers for all SNPs and ...
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Li Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis
... minor allele frequencies (MAFs), which has become a key factor for the diagnostic laboratory in inter- preting genetic test ...specific variant. PVs are assumed to be of germline origin when the ...
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Effect of FTO rs9939609 variant on insulin resistance in obese female adolescents
... rs9939609 variant has been shown to be associated with insulin resistance in Caucasian ...risk allele (A) frequency of FTO rs9939609 variant in Indonesian obese female adolescence was ...risk ...
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The omics in migraine
... C677T variant in the methylenetetrahydrofolate reductase (MTHFR) has been associated with increased risk of migraine with aura ...C allele carrier is also related to higher reduc- tion in homocysteine ...
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Modulation of the immune system against the ccr5 Δ 32 variant in hiv infection
... genetic variant can be emphasized, not being at first possible to be classified as beneficial or malefic, until, because, factors added to the genetic heritages of an individual, throughout life will alter the ...
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Relationship of MTHFR and ACE Gene Variations With Migraine Susceptibility: A Case-Control Study in the Population of North India (Jammu)
... ‘T’ allele (variant allele) and TT genotype (variant) was found to be present only in migraine patients but not in controls thereby suggesting its positive role in migraine ...
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Evaluation the frequency of factor V Leiden mutation in pregnant women with preeclampsia syndrome in an Iranian population
... Recently it was found that women with this variant allele are at increased risk for pregnancy complications such as: preeclampsia, early onset of preeclampsia, very ea[r] ...
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Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment
... The allele frequencies of coding variants discovered in SLIC probands were compared to those observed in 4679 individuals of European ancestry across publically available control da- tabases; the 1000 genomes ...
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