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1 .04] per 1000euro/mo increase and additional risk allele).
2 etabolite being increased in carriers of the risk allele.
3 occurs on haplotypes carrying the rs9834970 risk allele.
4 ncomycin with and without the identified HLA risk allele.
5 o understand the functional impact of the at-risk allele.
6 rrelated with the level of expression of the risk allele.
7 for incident coronary events per additional risk allele.
8 zophrenic patients carrying the rs6039769 at-risk allele.
9 tion than those from individuals without the risk allele.
10 res, and were more likely to carry the MUC5B risk allele.
11 creased in carriers of the TM6SF2 rs58542926 risk allele.
12 ed DNA methylation more effectively than the risk allele.
13 way regulation in patients carrying specific risk alleles.
14 f the odds ratio multiplied by the number of risk alleles.
15 resilience in carriers of disease-associated risk alleles.
16 nificantly lower in kidneys of subjects with risk alleles.
17 ls exclusively from subjects carrying asthma-risk alleles.
18 n, especially in patients homozygous for the risk alleles.
19 tant contributions from both common and rare risk alleles.
20 ence likely carry a greater burden of common risk alleles.
21 potentially identify new cancer-predisposing risk alleles.
22 s triggering disease in interaction with the risk alleles.
23 holesterol (TC) were created as the count of risk alleles.
26 abolites were positively associated with the risk allele (17-58% increase/allele copy, P = 0.046-0.00
28 oorer cognitive performance, whereas most BD risk alleles (9 of 12, 75%) were associated with better
29 eta=-0.11 micromol/L per genetic risk scores risk allele; 95% confidence interval, -0.188 to -0.033;
34 chizophrenia that involves a large number of risk alleles across the whole range of population freque
36 a cell function, and many with HLA+ diabetes risk alleles also had monogenic diabetes variants, indic
37 t of the association between the rs9277378*A risk allele and NKTCL susceptibility (OR 2.38, p value f
38 whether an association exists between APOL1 risk alleles and cardiovascular disease (CVD) that is in
40 , to our knowledge, to identify specific CAD risk alleles and potential genetic factors contributing
41 correlation between coronary artery disease risk alleles and repressed expression of these genes.
42 observations from genetically defined autism risk alleles and rodent model, these findings suggest a
44 M transcript produced primarily by the "LOAD-risk" allele and a shorter CD33m isoform lacking the sia
45 y differences in response inhibition between risk-allele and non-risk allele carriers in children suf
46 .02] per 1000euro/mo increase and additional risk allele) and for incident coronary events (hazard ra
47 he identification of human leukocyte antigen risk alleles, and drug-induced proliferation of lymphocy
48 When adjusting for age, sex, ARMS2 and CFH risk alleles, and examination phase, the ox-LDL at the b
49 e expression in mouse models harboring major risk alleles, and strengthen the connection between chan
50 tations can be expected to share some common risk alleles, and therefore pathophysiological mechanism
55 need to keep questioning if weighted sums of risk alleles are measuring what we think they are in the
57 rect evidence demonstrating that these APOL1 risk alleles are pathogenic is still lacking because the
58 AD and MD and to determine whether polygenic risk alleles are shared with neuropsychiatric traits or
60 ypes, were enriched for common schizophrenia risk alleles, as well as rare loss-of-function and de no
61 cated in intron 3 of VLDLR; rs3780181-A is a risk allele associated (P <= 2 x 10-9) with increased TC
63 or evening preference, and MTNR1B rs10830963 risk allele associated with type 2 diabetes and HbA(1c)
66 interest, we hypothesized that summation of risk-allele-associated gene expression, namely a transcr
67 ated mapping to a B-cell super-enhancer, and risk allele association with decreased enhancer activity
72 showed colocalized associations between the risk allele at the IL6 lead variant and higher eosinophi
75 lder siblings among carriers of known asthma risk alleles at 17q21 (e.g., rs8076131) (adjusted odds r
81 t cohort, we also showed that the numbers of risk alleles at these loci are negatively correlated wit
83 ations systematically replaced the inherited risk alleles (at MPL) or duplicated them to the homologo
86 ression quantitative trait loci effects, the risk allele being associated with lower lymphocytic expr
87 s been postulated that individuals who carry risk alleles but are unaffected are at some reproductive
88 podocyte-specific expression of either APOL1 risk allele, but not of the G0 allele, develop functiona
90 In addition, we found an association of CRC-risk allele C of rs7198799 with elevated transcript leve
91 bilical vein endothelial cells (HUVECs), the risk allele "C" is associated with lower expression of t
92 provide mechanistic insights into how CHRNA3 risk alleles can increase the risk of tobacco dependence
93 CTCF binding in promoter-binding assays, and risk allele carriage diminished transcriptional correlat
96 pendent subject groups demonstrated that T2D-risk allele carriers displayed reduced levels of STARD10
97 ponse inhibition between risk-allele and non-risk allele carriers in children suffering from ADHD and
98 ted expression of these lncRNAs and c-myc in risk allele carriers may explain their greater susceptib
99 using functional magnetic resonance imaging, risk allele carriers of rs17689918 showed aberrant diffe
106 ression of the human APOL1 G1 and G2 disease risk alleles caused near-complete lethality in D. melano
107 pattern of differential injury by the APOL1 risk alleles compared with the nonrisk alleles across ev
109 gether, these data suggest that rs11708067-A risk allele contributes to type 2 diabetes by disrupting
110 nucleotide polymorphisms on stroke risk per risk allele, corresponding to a one allele increase in t
112 (PRS) for cases and controls by summing the risk allele counts for the variants weighted by their na
113 find that KIF3A SNP rs11740584 and rs2299007 risk alleles create cytosine-phosphate-guanine sites, wh
114 In conclusion, GSTM1 null and APOL1 high-risk alleles deleteriously affect CKD progression among
116 espite this, many individuals expressing HLA risk alleles do not develop hypersensitivity when expose
117 se the majority of individuals who carry HLA risk alleles do not develop hypersensitivity, other para
119 aled an association between Brugada syndrome risk allele dosage and HEY2 expression (beta=+0.159; P=0
120 e, as well as a positive association between risk-allele dosage and symptom severity, whereas neuroty
121 ward circuit as a function of increased OXTR risk-allele dosage, as well as a positive association be
126 usion, abstinent smokers with the withdrawal risk allele experienced greater alleviation of their urg
127 e secondary structure of the paRNA, with the risk allele facilitating the assembly of the microRNA-gu
128 FL in the nasal sector with each copy of the risk allele for both the SIX1 (rs10483727) and SIX6 (rs3
129 ards longer lifespan in individuals with the risk allele for depressive symptoms in men (odds ratio (
130 ns only with the GRSBMI and GRSComplete [per risk allele for each soft drink serving per day: 0.05 cm
137 d DNA sequence variants that colocalize with risk alleles for common diseases can expose disease-asso
139 for each individual by summing the number of risk alleles for each SNP weighted by the respective eff
142 dies have thus far indicated five genes with risk alleles for LATE-NC: GRN, TMEM106B, ABCC9, KCNMB2,
145 ntially complex molecular etiology, in which risk alleles for schizophrenia generate epigenetic alter
147 o be negatively associated with the maternal risk alleles for the alpha5 nicotinic acetylcholine rece
152 vs non-DS ALL case-case analyses, comparing risk allele frequencies at these and other established s
153 4, between the genes LINC01142 and METTL11B (risk allele frequency = 8.1%; odds ratio [OR]: 1.26; p =
157 cluded an association between the rs2007044 (risk allele G) within CACNA1C and poorer working memory
158 ry 2 copies of the apolipoprotein L1 (APOL1) risk alleles G1 or G2, which are associated with 1.5- to
160 othesis that APOL1 (G0) preserves, but APOL1 risk alleles (G1 and G2) disrupt APOL1-miR193a axis in D
164 th normal kidney function at baseline with 2 risk alleles had slightly higher risk of developing coro
166 isposition to keloid formation, and a keloid risk allele has been reported in the gene locus for the
168 haracter because humans carrying the ADAMTS9 risk allele have decreased expression of mitochondrial m
169 esting that carriers of the reduced migraine risk allele have reduced sensitivity to cold stimuli and
173 y artery disease compared with those with no risk alleles (hazard ratio, 1.11 [95% CI, 1.01-1.21]; P=
175 four SNPs, carriers of two copies of the T2D risk allele (homozygous genotype) had significantly smal
176 score, we find increased polygenic burden of risk alleles identified by GWAS in multiplex vitiligo ca
180 ar metabolic traits associated with the 1q25 risk allele in HUVECs, including impairments of the gamm
182 18) explore the consequences of this genetic risk allele in NEDD4 for inflammation in the skin and fo
183 thinner RNFL was found with each copy of the risk allele in rs33912345 with a decrease trend observed
190 ignificant RNFL thinning in each copy of the risk alleles in SIX1/SIX6 in the eyes of younger individ
193 se HCM patients commonly have low penetrance risk alleles in TNNT2 or TNNI3 but exhibit few clinicall
194 tions that duplicate or remove the inherited risk alleles, including large-effect rare variants at NB
195 d that the common IBD-associated rs1517352 C risk allele increased both STAT1 and STAT4 expression in
196 nd ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 prom
198 DNA-nuclear protein interactions, where the risk allele is associated with increased SLC4A7 expressi
200 tly, the dosage of the rs17594362/rs12429256 risk allele is positively correlated with the expression
202 st that a larger burden of AD common genetic risk alleles is associated with attenuated cerebrovascul
203 t demonstration that the expression of APOL1 risk alleles is causal for altered podocyte function and
204 logical perspective and that the concept of "risk allele" is highly context dependent, changing with
205 who were informed that they carried the FTO risk allele (level 3 AT/AA carriers) than in the nonpers
206 ing and immunoblotting demonstrated that the risk allele locally conferred reduced expression of SEL1
207 athway transcripts, indicating that the DAP1 risk allele mediates enhanced autophagy, leading to the
209 e white (n=1700), high-risk black (two APOL1 risk alleles, n=176), and low-risk black (zero/one risk
211 xpressed in subjects homozygous for the high-risk allele of lead SNP rs60131261 than subjects homozyg
213 r large HDL particle numbers, such that each risk allele of the genetic risk scores was associated wi
214 derived neural progenitor cells carrying the risk allele of the single nucleotide polymorphism (SNP),
215 d from the percentage of the carriers of the risk allele of the variant who had high IOP (ocular hype
218 sion of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaini
221 ; hazard ratio: 2.18:95%CI: 1.47-3.24) and C(risk) allele of CFH rs1329428 (P = 2.0 x 10(-3); hazard
223 rs investigated the influence of psychiatric risk alleles on early-onset mental health trajectories a
224 st this hypothesis, isolating the effects of risk alleles on fecundity from the effects that are cont
225 emonstrate the overall enrichment of disease risk alleles on gene regulatory regions, they are not de
233 iated with higher GRS (P < 0.0001) and ARMS2 risk alleles (P < 0.0001) and, at a nominal level, with
234 P < 0.0001) and, at a nominal level, with C3 risk alleles (P = 0.04) and CFH risk alleles (P = 0.048
236 ogenic CNVs carry an excess burden of common risk alleles (P=2.25 x 10(-17)) defined from a genome-wi
239 dated human leukocyte antigen (HLA)-DR*03:01 risk allele predicted increased risk of adverse outcome
240 nd sexual abuse in interaction with an FKBP5 risk allele previously associated with vulnerability to
241 who are heterozygous or homozygous for this risk allele produce significantly higher levels of IL-12
242 tients who are homozygous for cardiovascular-risk alleles (R/R cardiomyocytes) or from healthy indivi
243 n four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC17
247 k for MI was determined by counting the 9p21 risk alleles; results were provided to each participant
248 tently demonstrated that the 1q42.1 melanoma risk allele (rs3219090[G]) is correlated with higher PAR
250 sues, such as the correlation between asthma risk allele, rs7216389-T and Gasdermin-B (GSDMB) in plac
251 When in trans with the RET intron 1 enhancer risk allele, rs9282834 increases the risk of HSCR from 1
252 major mood disorders; subjects carrying the risk allele showed impaired cognitive abilities, increas
253 preadipocyte cells and that the rs3780181-A risk allele showed significantly less enhancer activity
254 us (P0.05), with BD subjects carrying the T (risk) allele showing decreased fractional anisotropy com
256 zed the cross-sectional association of APOL1 risk allele status with lipid traits and 115 cardiovascu
259 sequencing captures low-frequency functional risk alleles that are missed by SNP array-based studies.
260 rstanding of the biological functions of the risk alleles that have been identified, although Parkins
261 bly, within and across independent loci, T2D risk alleles that overlap with RFX footprints uniformly
262 associated with genetic risk (schizophrenia risk alleles), the subsequent course of emotional proble
264 ntribute to the persistence of schizophrenia risk alleles, these results indicate that the negative s
265 atients with the chromosome 9p21.3 rs1333049 risk allele together with high fasting insulin levels be
266 C2 expression associated with the homozygous risk allele (TT) of rs9517723 could induce overactivatio
267 erally constructed as weighted sum scores of risk alleles using effect sizes from genome-wide associa
268 nsmembrane and coiled-coil domains 1 (TMCO1) risk alleles using Kaplan-Meier and Cox proportional haz
274 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P
277 hat represent COA-specific risk factors, the risk allele was more common in COA- than in AOA-affected
280 Since HOXB13 p.G84E is a prostate cancer risk allele, we evaluated the association between HOXB13
281 re (GRS) constructed as the sum of inherited risk alleles, weighted by allelic effects established in
287 de polymorphisms determining APOL1 G1 and G2 risk alleles were genotyped in BioMe and imputed in BioV
291 ese disorders could represent causal disease risk alleles whose effect may be modifiable by vitamin D
292 We estimated the relationship of the PAI-1 risk allele with FEV1/FVC by multivariate linear regress
295 ed with T2D (odds ratio 1.07 [1.06-1.09] per risk allele), with a stronger effect observed in nonobes
296 Identification of an endometrial cancer risk allele within a member of the PI3K/AKT signaling pa
298 ted MN was initially found to associate with risk alleles within HLA-DQA1, but subsequent studies hav
299 enic transmission of common, low-effect-size risk alleles within multiplex-vitiligo-affected families
300 letion variant, GCTGT-->A (in which A is the risk allele), yielded a shorter transcript that escaped