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1 .04] per 1000euro/mo increase and additional risk allele).
2 ive model (high-risk genotype defined by two risk alleles).
3 y magnify the diabetes risk conferred by the risk allele.
4 gnificantly lower than in cells carrying the risk allele.
5 expression in comparison to that of the non-risk allele.
6 ell lines from healthy controls carrying the risk allele.
7 ically reduced enhancer activity with the AF risk allele.
8 gous for the nonrisk allele, but not for the risk allele.
9 o understand the functional impact of the at-risk allele.
10 rrelated with the level of expression of the risk allele.
11 for incident coronary events per additional risk allele.
12 zophrenic patients carrying the rs6039769 at-risk allele.
13 ls exclusively from subjects carrying asthma-risk alleles.
14 n, especially in patients homozygous for the risk alleles.
15 a developing than participants with no TMCO1 risk alleles.
16 nscription factor-binding disruption by ADHD risk alleles.
17 ge, or a decade older, without APOE epsilon4 risk alleles.
18 omains were associated with established LOAD risk alleles.
19 hy and 2% of population controls carried two risk alleles.
20 rican Americans with either one or two APOL1 risk alleles.
21 f the odds ratio multiplied by the number of risk alleles.
22 resilience in carriers of disease-associated risk alleles.
23 nificantly lower in kidneys of subjects with risk alleles.
25 eta=-0.11 micromol/L per genetic risk scores risk allele; 95% confidence interval, -0.188 to -0.033;
30 t of the association between the rs9277378*A risk allele and NKTCL susceptibility (OR 2.38, p value f
33 ritable, polygenic traits, which often share risk alleles and for which nonrandom mating has been sug
36 , to our knowledge, to identify specific CAD risk alleles and potential genetic factors contributing
37 observations from genetically defined autism risk alleles and rodent model, these findings suggest a
39 gration does not explain the distribution of risk alleles and the worldwide pattern of allele frequen
40 M transcript produced primarily by the "LOAD-risk" allele and a shorter CD33m isoform lacking the sia
41 y differences in response inhibition between risk-allele and non-risk allele carriers in children suf
43 .02] per 1000euro/mo increase and additional risk allele) and for incident coronary events (hazard ra
44 tations can be expected to share some common risk alleles, and therefore pathophysiological mechanism
49 py-naive South-African blacks with two APOL1 risk alleles are at very high risk for developing HIV-as
50 for diseases of complex inheritance because risk alleles are few relative to the vast set of benign
51 rect evidence demonstrating that these APOL1 risk alleles are pathogenic is still lacking because the
52 AD and MD and to determine whether polygenic risk alleles are shared with neuropsychiatric traits or
54 pic overlap among common diseases that share risk alleles, as well as between Mendelian diseases and
55 rs662463 is a cis-eQTL for CDKN2B, with the risk allele associated with lower expression, and sugges
58 ociated loci, TSPAN15 and SLC44A2, with lead risk alleles associated with odds ratio for disease of 1
60 interest, we hypothesized that summation of risk-allele-associated gene expression, namely a transcr
66 determined that the sequence containing the risk allele at rs17319721 is a transcription factor 7-li
67 ha (TFAP2a), which bound robustly to the non-risk allele at rs2595104, but not to the risk allele, in
71 lder siblings among carriers of known asthma risk alleles at 17q21 (e.g., rs8076131) (adjusted odds r
75 etween a genetic risk score composed of high-risk alleles at the 49 single nucleotide polymorphisms a
79 podocyte-specific expression of either APOL1 risk allele, but not of the G0 allele, develop functiona
80 be mediated by a small number of shared high-risk alleles, but rather has a complex genetic architect
81 ve APOL1HDL from donors with no or two APOL1 risk alleles by size-exclusion chromatography and analys
84 CTCF binding in promoter-binding assays, and risk allele carriage diminished transcriptional correlat
85 esponse to conditioned reward stimuli in the risk allele carriers compared with major allele carriers
86 pendent subject groups demonstrated that T2D-risk allele carriers displayed reduced levels of STARD10
87 ponse inhibition between risk-allele and non-risk allele carriers in children suffering from ADHD and
88 to impulse control and taste responsiveness, risk allele carriers of FTO exhibit dose-dependent incre
90 using functional magnetic resonance imaging, risk allele carriers of rs17689918 showed aberrant diffe
92 Furthermore, increased T2D risk in MTNR1B risk allele carriers was more pronounced in early risers
98 ression of the human APOL1 G1 and G2 disease risk alleles caused near-complete lethality in D. melano
99 lls from healthy subjects homozygous for the risk allele (CC) compared with memory CD4(+) T cells bea
100 pattern of differential injury by the APOL1 risk alleles compared with the nonrisk alleles across ev
102 gether, these data suggest that rs11708067-A risk allele contributes to type 2 diabetes by disrupting
104 iple genes in the vicinity of any single CKD risk allele correlated with renal function, potentially
105 nucleotide polymorphisms on stroke risk per risk allele, corresponding to a one allele increase in t
107 (PRS) for cases and controls by summing the risk allele counts for the variants weighted by their na
108 o a decreased TREM1/TREM2 ratio with a TREM1 risk allele, decreased TREM2 expression with CD33 suppre
109 In conclusion, GSTM1 null and APOL1 high-risk alleles deleteriously affect CKD progression among
110 ween different populations revealed opposing risk alleles, different gender effects, and response to
113 se the majority of individuals who carry HLA risk alleles do not develop hypersensitivity, other para
114 aled an association between Brugada syndrome risk allele dosage and HEY2 expression (beta=+0.159; P=0
115 e, as well as a positive association between risk-allele dosage and symptom severity, whereas neuroty
116 ward circuit as a function of increased OXTR risk-allele dosage, as well as a positive association be
119 for by numerous factors, including multiple risk alleles, epistasis, and epigenetic effects such as
120 usion, abstinent smokers with the withdrawal risk allele experienced greater alleviation of their urg
121 wide association studies, although the known risk alleles explain only a small proportion of the heri
122 e secondary structure of the paRNA, with the risk allele facilitating the assembly of the microRNA-gu
124 ards longer lifespan in individuals with the risk allele for depressive symptoms in men (odds ratio (
125 owed an interaction only with the GRSWC (per risk allele for each soft drink serving per day: -0.06 k
126 ns only with the GRSBMI and GRSComplete [per risk allele for each soft drink serving per day: 0.05 cm
127 ntly lower with higher copy number of the RA risk allele for rs17611, suggesting increased turnover o
131 examined control and T1D subjects with these risk alleles for CD4 T-cell responses to the same natura
136 for each individual by summing the number of risk alleles for each SNP weighted by the respective eff
137 for each individual by summing the number of risk alleles for each SNP weighted by the respective eff
138 he genetic risk score representing all known risk alleles for inflammatory bowel disease showed stron
143 those with deficient vitamin D status and 2 risk alleles for the CFH and CFI genotypes, suggesting a
147 4, between the genes LINC01142 and METTL11B (risk allele frequency = 8.1%; odds ratio [OR]: 1.26; p =
149 1.18) and a P-value of 4.63 x 10 (-) (8) The risk allele frequency for this SNP is zero in European-a
152 cluded an association between the rs2007044 (risk allele G) within CACNA1C and poorer working memory
157 , non-Hispanic white participants with TMCO1 risk alleles had a 12% higher cumulative frequency of gl
162 Among new and previously identified class II risk alleles (HLA-DRB1*15:01, HLA-DRB1*13:03, HLA-DRB1*0
164 entify a common TBX6 haplotype as the second risk allele in all 17 carriers of TBX6 null mutations (P
166 s2595104 region and editing of the rs2595104 risk allele in human stem-cell-derived cardiomyocytes re
167 ect -1.24 years of maternal life per imputed risk allele in parent; sex difference, P=0.011), and a l
168 earlier for homozygous carriers of the A69S risk allele in the age-related maculopathy susceptibilit
169 r transplant and the presence of the SHROOM3 risk allele in the donor correlated with increased allog
172 proved to be a valuable tool for identifying risk alleles in a rare disease with complex genetics.
174 Analysis of the expression of genes with risk alleles in cells of hematopoietic origin demonstrat
177 Genetic studies demonstrated the presence of risk alleles in the genes ANRIL and CAMTA1/VAMP3 that ar
180 eterozygous for rs6590330 confirmed that the risk allele increased binding to the active form of STAT
183 nd ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 prom
186 rom the cumulative effect of multiple common risk alleles individually of small effect size rather th
187 ovide the surprising insight that the MTNR1B risk allele influences dynamics of melatonin secretion,
188 DNA-nuclear protein interactions, where the risk allele is associated with increased SLC4A7 expressi
190 t demonstration that the expression of APOL1 risk alleles is causal for altered podocyte function and
192 Thus reduced gene expression driven by CRHR1 risk allele leads to a phenotype characterized by fear s
194 who were informed that they carried the FTO risk allele (level 3 AT/AA carriers) than in the nonpers
195 ing and immunoblotting demonstrated that the risk allele locally conferred reduced expression of SEL1
197 enerating a novel hypothesis that the MTNR1B risk allele may extend the duration of endogenous melato
198 tics of T1D, suggesting that most of the T1D risk alleles mediate their effect by influencing express
199 Alleles previously considered to be obesity risk alleles might in fact function as plasticity allele
201 e white (n=1700), high-risk black (two APOL1 risk alleles, n=176), and low-risk black (zero/one risk
202 ts with 0 or 1 CFH risk alleles and no ARMS2 risk alleles, neither zinc-containing treatment altered
203 nts with 2 CFH risk alleles and 1 or 2 ARMS2 risk alleles, no treatment was better than placebo (48.4
204 whereas current smoking and presence of >/=1 risk allele of CFH-rs1061170 or ARMS2-rs10490924 were as
205 xpressed in subjects homozygous for the high-risk allele of lead SNP rs60131261 than subjects homozyg
207 unctional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter amon
208 r large HDL particle numbers, such that each risk allele of the genetic risk scores was associated wi
210 d from the percentage of the carriers of the risk allele of the variant who had high IOP (ocular hype
212 Compared with noncarriers, carriers of 4 risk alleles of rs10741657 and rs4588 had lowest concent
213 A genetic risk score derived from the sum of risk alleles of the 3 SNPs also showed a significant int
214 sion of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaini
216 tissues and breast tumors showed that the g (risk) allele of rs10941679 was associated with increased
218 ng possible effects of the MAD1L1 rs11764590 risk allele on reward systems functioning in healthy adu
219 ombined effects of GSTM1 null and APOL1 high-risk alleles on clinical outcomes in 682 AASK participan
220 emonstrate the overall enrichment of disease risk alleles on gene regulatory regions, they are not de
222 genetics analyses defined the effect of T1D risk alleles on levels of gene expression and provide no
223 studies to examine the effect of non-HLA T1D risk alleles on regulating expression levels of genes in
231 ogenic CNVs carry an excess burden of common risk alleles (P=2.25 x 10(-17)) defined from a genome-wi
232 r samples revealed that carriers of the 9p21 risk allele possess a significantly higher burden of imm
233 Single-center studies have shown that 4q25 risk alleles predict recurrence of AF after catheter abl
235 nd sexual abuse in interaction with an FKBP5 risk allele previously associated with vulnerability to
238 atients with 2 CFH risk alleles and no ARMS2 risk alleles progressed more with zinc-containing treatm
239 cture of schizophrenia is complex, involving risk alleles ranging from common alleles of weak effect
240 n four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC17
243 n primary adipocytes from a patient with the risk allele restored IRX3 and IRX5 repression, activated
244 k for MI was determined by counting the 9p21 risk alleles; results were provided to each participant
246 tently demonstrated that the 1q42.1 melanoma risk allele (rs3219090[G]) is correlated with higher PAR
248 tion in gene expression (P = 0.017), and the risk alleles rs3761581G and rs2235312T were associated w
249 sues, such as the correlation between asthma risk allele, rs7216389-T and Gasdermin-B (GSDMB) in plac
250 ious studies have suggested that the obesity-risk allele rs8050136 in the first intron of FTO alters
251 When in trans with the RET intron 1 enhancer risk allele, rs9282834 increases the risk of HSCR from 1
253 major mood disorders; subjects carrying the risk allele showed impaired cognitive abilities, increas
254 us (P0.05), with BD subjects carrying the T (risk) allele showing decreased fractional anisotropy com
257 alyses further showed that the schizophrenia risk allele (T) of rs3782206 was associated with poorer
258 bly, within and across independent loci, T2D risk alleles that overlap with RFX footprints uniformly
260 ric genetics is detection of multiple common risk alleles through very large genome-wide association
262 C2 expression associated with the homozygous risk allele (TT) of rs9517723 could induce overactivatio
263 nsmembrane and coiled-coil domains 1 (TMCO1) risk alleles using Kaplan-Meier and Cox proportional haz
265 th 11-fold induction of transcription by the risk allele versus 8-fold by the control allele (pdiffer
266 jects, especially those with only one HLA-DQ risk allele, very frequently made an IL-10 response, a c
269 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P
273 in tumors with one germline and one somatic risk allele was indistinguishable from those with purely
277 TGFBR3-CDC7 (P = 0.002; odds ratio, 6.71 per risk allele) was the only SNP associated with VF progres
278 larities between IA(g7) and human HLA-DQ T1D risk alleles, we examined control and T1D subjects with
280 n down the frequency of many prostate cancer risk alleles; we estimate the coupling between selection
281 ican Americans with none, one, and two APOL1 risk alleles were 38%, 43%, and 19%, respectively; 38% o
288 de polymorphisms determining APOL1 G1 and G2 risk alleles were genotyped in BioMe and imputed in BioV
290 ociation was detected between the known POAG risk alleles when the OHTS cohort was examined as a whol
291 xpression in individuals carrying the asthma-risk alleles, where ORMDL3 negatively regulated interleu
292 d by caspase processing of the ATG16L1-T300A risk allele, whereas canonical autophagy remains unaffec
293 EWSR1-FLI1 preferentially bound to the A risk allele, which increased global and allele-specific
294 ese disorders could represent causal disease risk alleles whose effect may be modifiable by vitamin D
295 We estimated the relationship of the PAI-1 risk allele with FEV1/FVC by multivariate linear regress
296 zygosity and average allele frequency of the risk alleles with distance from Africa and 9 environment
297 ed with T2D (odds ratio 1.07 [1.06-1.09] per risk allele), with a stronger effect observed in nonobes
298 Identification of an endometrial cancer risk allele within a member of the PI3K/AKT signaling pa
299 ted MN was initially found to associate with risk alleles within HLA-DQA1, but subsequent studies hav
300 letion variant, GCTGT-->A (in which A is the risk allele), yielded a shorter transcript that escaped
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