ライフサイエンスコーパス: age at onset

1 r exome sequencing (two patients had missing age at onset).

2 N, with no effects of duration of illness or age at onset.

3 terminants of the progression of disease and age at onset.

4 D could be identified in cases subdivided by age at onset.

5 sis was derived using DSM-5 criteria, except age at onset.

6 teria for young adult ADHD (YA-ADHD), except age at onset.

7 to detect genetic influences on GBA risk and age at onset.

8 d after conditioning on disease location and age at onset.

9 ual's polygenic risk score and their disease age at onset.

10 ygenic score for PD risk alleles and disease age at onset.

11 manifestations including a wide spectrum of age at onset.

12 ession in PPMS is variable and influenced by age at onset.

13 eneous, with variable tissue involvement and age at onset.

14 compared clinical characteristics, including age at onset.

15 t episode compared with recurrent status, or age at onset.

16 patients with strong family history or early age at onset.

17 risk loci and 14 novel loci associated with age at onset.

18 We conducted a genome-wide study for age-at-onset.

19 hort duration of follow-up (p<0.0001), lower age at onset (-0.02 [SE 0.01] per additional year; p=0.0

20 nteen patients (median [interquartile range] age at onset, 1.5 [9.8] years) with YARS2-related mitoch

21 ly 3 with a presumed recessive transmission (age at onset, 38 years; mean visual acuity, 20/50).

22 and driven by inclusion of SNCA p.A53T (mean age at onset, 45.9 years; 95% CI, 43-49 years).

23 Of 250 patients (mean [SD] age at onset, 49.7 [21.2] years; 56% female), 38 (15.2%)

24 Four GRN mutation carriers (age at onset, 56-65 years) presenting with severe WML we

25 re comparable to Tunisian Arab Berbers (mean age at onset, 57.1 years; 95% CI, 45.5-68.7 years) (P =

26 hkenazi Jewish LRRK2 p.G2019S carriers (mean age at onset, 57.9 years; 95% CI, 54-63 years) were comp

27 without routine cardiac assessment (average age at onset, 58.8 years).

28 e [60.8%] and 1667 female [39.2%]; mean [SD] age at onset, 59 [12] years), the following 2 novel loci

29 he specific mutation (48%, 95% CI 35-62, for age at onset; 61%, 47-73, for age at death), and even mo

30 TTR were assessed; 37 were symptomatic; mean age at onset=62 years, range=38-75 years; 75.7% male.

31 (P = .58), whereas Norwegian carriers (mean age at onset, 63 years; 95% CI, 51.4-74.6 years) were si

32 period, a total of 2702 patients (mean [SD] age at onset, 65.7 [11.1] years; 1246 [46.1%] female and

33 n more by family membership (66%, 56-75, for age at onset; 74%, 65-82, for age at death).

34 s as they also developed AD dementia (median age at onset, 76.0 years).

35 heterozygous for A673T, including 1 AD case (age at onset, 89 years) and 2 controls (age at last exam

36 gth explains around half of the variation in age at onset (AAO) but genetic variation elsewhere in th

37 An earlier age at onset (AAO) has been associated with greater gene

38 Age at onset (AAO) in multiple sclerosis (MS) is an impo

39 rstanding how midlife risk factors influence age at onset (AAO) of Alzheimer's disease (AD) may provi

40 ion testing to identify variants that modify age at onset (AAO) of Alzheimer's disease.

41 Age at onset (AAO) of bipolar disorders (BD) could be in

42 zheimer disease (LOAD) and to differences in age at onset (AAO), it is important to know whether othe

43 d psychiatric symptoms, imaging results, and age at onset (AAO).

44 in the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP.

45 itional Mendelian gene variants have younger ages at onset (AAO).

46 st that a common genetic mechanism modulates age at onset across polyglutamine diseases and could ext

47 2 repeat expansion by means of a decrease in age at onset across successive generations.

48 Male sex (HR=1.41; p<0.001), older age at onset (age </=20 and 21-30 vs >30 HR=0.52 (p<0.00

49 xed effects models to explore differences in age at onset, age at death, and disease duration between

50 GBA-associated Parkinson's disease risk and age at onset, although the total contribution of common

51 explained 17% (11-26) of the variability of age at onset and 19% (12-29) of that of age at death.

52 on, whereas 14% (9-22) of the variability of age at onset and 20% (12-30) of that of age at death was

53 group, only 2% (0-10) of the variability of age at onset and 9% (3-21) of that of age of death was e

54 AG repeat size is the primary determinant of age at onset and age at death in HD.

55 106B may act as a genetic modifier affecting age at onset and age at death in the Mendelian subgoup o

56 survival in this cohort was associated with age at onset and age at diagnosis only.

57 actinic dermatitis presents with an earlier age at onset and an inverted male to female ratio in pat

58 significantly correlated with both parental age at onset and at death and with mean family age at on

59 vestigate the extent to which variability in age at onset and at death could be accounted for by fami

60 e at onset and at death and with mean family age at onset and at death in all three groups, with a st

61 Modelling showed that the variability in age at onset and at death in the MAPT group was explaine

62 We also assessed correlations between the age at onset and at death of each individual and the age

63 t and at death of their parents and the mean age at onset and at death of their family members.

64 nset and at death of each individual and the age at onset and at death of their parents and the mean

65 Individual age at onset and at death was significantly correlated w

66 reflected by a quadratic association between age at onset and CAG size in spinocerebellar ataxia type

67 Positive associations were stratified by age at onset and cancer family history.

68 ADAD phenotypes are heterogeneous, with both age at onset and clinical features being influenced by m

69 We assessed the effect of TREM2 genotype on age at onset and disease duration.

70 entia depends on the clinical condition, the age at onset and family history.

71 study (GWAS) in HD found association between age at onset and genetic variants in DNA repair pathways

72 MDD patients with early age at onset and higher symptom severity have an increas

73 g the patients, there was variability in the age at onset and in the specific pattern of photorecepto

74 ilon4 risk allele associates with an earlier age at onset and increased amyloid-beta deposition, wher

75 good agreement with the physician-confirmed age at onset and last disease activity; the mean differe

76 e unknown, but it is associated with earlier age at onset and more severe cognitive deficits.

77 The age at onset and natural progression of retinal disease

78 nd relationship status) and psychiatric (ie, age at onset and number of previous episodes of depressi

79 un damage and round cell melanoma with early age at onset and phototype 1 in the context of multiple

80 sociated with different genetic alterations, age at onset and prognosis.

81 Both age at onset and progression of the disease showed clini

82 ies, because rare variants contribute to the age at onset and progression of the disease.

83 ogressive cerebellar ataxia, with a variable age at onset and rate of progression between different b

84 l features of disease such as female gender, age at onset and severity.

85 evidence regarding the prognostic effect of age at onset and stridor.

86 A higher HLAGB was associated with younger age at onset and the atrophy of subcortical gray matter

87 ith SARA were explained by disease duration, age at onset and the shorter abnormal repeat in the FXN

88 rabismus subtypes, indicating differences in age at onset and thereby implying differences in the und

89 ing to the presence of antibodies, symptoms, age at onset and thymus pathology.

90 linical practice and research by considering age-at-onset and changes over time as well as different

91 S) display variability in phenotypes such as age-at-onset and duration, suggesting the existence of a

92 Multivariable analysis adjusted by sex, age at onset, and disease duration attributed to GBA car

93 and lifetime psychiatric disorders, disorder age at onset, and disorder severity in a nationally repr

94 location, disease behavior, disease course, age at onset, and extraintestinal manifestations).

95 on, age of patient or unaffected individual, age at onset, and first motor symptom of patient.

96 related to lifetime cannabis use (ever used, age at onset, and frequency of use) using linear regress

97 Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor

98 onally studied the lifetime risk of any NCD, age at onset, and overall life expectancy for strata of

99 isk, and associations with symptom severity, age at onset, and parental psychiatric history.

100 pressive agents), whereas clinical features, age at onset, and pathologic findings were similar in st

101 The high heritability, early age at onset, and reproductive disadvantages of autism s

102 We sought to determine the prevalence, age at onset, and risk factors associated with sickle ce

103 Outcomes were prevalence, age at onset, and type of SCR, based on examination by a

104 length is the main factor in determining the age at onset (AO) of clinical symptoms.

105 Age at onset (AO) ranges from 19 to 82 years, and variab

106 ve generations), although the differences in age at onset are not entirely accounted for by repeat le

107 ermined using general linear models with the age at onset as the dependent variable.

108 estimated using the Kaplan-Meier method with age at onset as the time variable; asymptomatic carriers

109 Among the 111 individuals with age at onset available (66 men and 45 women; mean [SD] a

110 Age at onset, baseline MMSE, years of education, motor e

111 to -0.14; P = .02) and in those with a later age at onset (beta, -0.11; 95% CI, -0.14 to -0.08; P < .

112 ression severity (beta=0.177, SE=0.069), and age at onset (beta=-0.375, SE=0.160).

113 ost-enlistment (chi(7)(2) = 123.8, P < .001) ages at onset both significantly predicted severe role i

114 AG repeat tracts are associated with earlier ages at onset, but this does not account for all of the

115 ical features of early relapse frequency and age at onset can be used to select groups at higher risk

116 This disorder can be subtyped according to age at onset (childhood-onset versus adolescent-onset) a

117 ncidence in most Asian countries, an earlier age at onset compared with the West, a relative increase

118 were stratified using increasing/decreasing age-at-onset cutoffs; significant single nucleotide poly

119 In the 8451 patients for whom age at onset data were available, deletions at 22q11.2 w

120 roimaging and CSF endophenotypes, along with age-at-onset data.

121 Regarding hypothesis 2, the mean age at onset decreased in successive generations (p < 0.

122 Age at onset differed by mutation, with a younger onset

123 ying a C9orf72 repeat expansion by analyzing age at onset, disease duration, and age at death in succ

124 The generational effect on age at onset, disease duration, and age at death was est

125 Generational effect on age at onset, disease duration, and age at death.

126 stage, but not Thal amyloid phase predicted age at onset, disease duration, and final Mini-Mental St

127 gnetic resonance imaging outcomes, including age at onset, disease severity, conversion time from cli

128 ns in both males and females, with a similar age at onset distribution.

129 with the susceptibility probability and the age-at-onset distribution of susceptible individuals for

130 Age at onset does not influence amyloid deposition or ne

131 The cases were also evaluated for age at onset effects (</= or >8 years of age).

132 loci and age at onset is the first report of age at onset effects in allergic rhinitis.

133 Two loci showed significant age at onset effects, but the effect of asthma on the as

134 Subgroup meta-analysis assessing age-at-onset effects identified reduced GMV in the left

135 entation did not correlate with outcome, but age at onset >/= 4 months was associated with attenuated

136 at onset <60 years old and 36 patients with age at onset >70 years old.

137 ht loss >= 5%, tobacco use at LEMS onset and age at onset >= 50 years were independent predictors for

138 Age at onset has been used as a quantitative phenotype i

139 y disease in several ways, including younger age at onset, history of infantile liver involvement, an

140 age-related macular degeneration and earlier age at onset; however, its associated phenotype has not

141 omy was significantly affected by 3 factors: age at onset (HR 1.047, p = 0.006), body mass index < 20

142 rithm of odds] score, 3.69), and the GWAS of age at onset identified variants on 1p13.1, 2q13, 4q25,

143 and SORBS2 may serve as genetic modifiers of age at onset in both EOAD and LOAD.

144 core modifies risk for disease and decreases age at onset in carriers of GBA variants.

145 -related frontotemporal dementia and affects age at onset in GRN mutation carriers.

146 w that DNA repair genes significantly modify age at onset in HD and SCAs, suggesting a common pathoge

147 ociation study detected genetic modifiers of age at onset in Huntington's disease.

148 ral gyrus was negatively correlated with the age at onset in IGE patients.

149 Given prior evidence of heterogeneity by age at onset in MDD, we tested whether genome-wide signi

150 familial Alzheimer disease (AD) by examining age at onset in PSEN1 mutation carrier families, and fur

151 ed at-risk relatives confirmed a decrease in age at onset in successive generations (P < .001).

152 prior evidence for strong genetic effect on age-at-onset in familial PD.

153 Recent genome-wide association studies of age-at-onset in Huntington's disease (HD) point to disti

154 Neither LHFPL2 nor TPM1 was associated with age-at-onset in non-familial PD.

155 y members with epilepsy tend to have similar ages at onset, independent of epilepsy syndrome; and (2)

156 is increased genetic burden by performing an age-at-onset informed GWAS meta-analysis, including a la

157 We used a three-stage age-at-onset informed GWAS to identify novel genetic var

158 pinocerebellar Ataxias, to determine whether age at onset is influenced by the size of the normal all

159 As the variability in age at onset is not completely explained by the effects

160 the SSTR1-MIPOL1 and TSLP-SLC25A46 loci and age at onset is the first report of age at onset effects

161 t, independent of epilepsy syndrome; and (2) age at onset is younger in successive generations after

162 the expansion is negatively correlated with age at onset, it accounts for only 50-70% of its variabi

163 testing in Parkinson's disease patients with age at onset < 40 years, especially in those from famili

164 iance and 1.1% (p = 1.30e(-05)) for MDD with age at onset <18 years.

165 utations with particularly early onset (mean age at onset <40 years) involving PSEN1's first hydrophi

166 D pathophysiologic process: 24 patients with age at onset <60 years old and 36 patients with age at o

167 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic famili

168 dy, 424 had young-onset Parkinson's disease (age at onset <= 50) and 1799 had late onset Parkinson's

169 arkinson's disease, and 1242 sEOPD patients (age at onset <= 50).

170 Eighteen per cent of patients with age at onset <=30 and 7.4% of patients from large domina

171 1.2 were associated with Parkinson's disease age at onset (Mann-Whitney U test p=0.001).

172 A medical record review of 55 patients for age at onset, medical history, initial symptoms, best-co

173 We reviewed patient medical records for age at onset, medical history, initial symptoms, best-co

174 nock-out of Mlh1, the ortholog of a third HD age-at-onset modifier gene (MLH1), which suppresses soma

175 , we evaluated the mouse orthologs of two HD age-at-onset modifier genes, FAN1 and RRM2B, for an infl

176 nal success in identifying risk loci but not age-at-onset modifiers.

177 ciated with individual-specific variation in age-at-onset not accounted for by ePAL, further highligh

178 nset rod-cone dystrophy, with a mean (range) age at onset of 12.1 (7-17) years.

179 females) had new-onset MDD, with a mean (SD) age at onset of 14.4 (2.0) years (range, 10-18 years).

180 99%) was observed in our sample, with a mean age at onset of 2.6 +/- 0.1 years.

181 nset rod-cone dystrophy, with a mean (range) age at onset of 29.7 (20-40) years, and 6 had an earlier

182 9 to 83 years at diagnosis, with a mean (SD) age at onset of 42.6 (2.4) years and duration of disease

183 rt (32.6% [16 of 49] female) had a mean (SD) age at onset of 50.1 (15.7) years.

184 rt (49.5% [46 of 93] female) had a mean (SD) age at onset of 61.8 (10.0) years.

185 re women, 203 were men, they had a mean (SD) age at onset of 64.8 (10.2) years, and 37 of them carrie

186 ase in C9+ individuals (based on the average age at onset of affected relatives in the family).

187 Of these 5 patients, 4 were men (80%); mean age at onset of ALSP was 29 years (range, 15-44 years).

188 Age at onset of Alzheimer's disease is highly variable,

189 th a 9.0-year delay (95% CI 6.3-11.6) in the age at onset of any NCD.

190 al of 76.6% of cases reported pre-enlistment age at onset of at least one 30-day disorder (49.6% inte

191 erted to multiple system atrophy had younger age at onset of autonomic failure, severe bladder/bowel

192 na and high-income countries include younger age at onset of breast cancer; the unique one-child poli

193 y lower than that of non-carriers, while the age at onset of carriers with other gene pathogenic/like

194 The age at onset of CF-related diabetes (CFRD) (marked by cl

195 DNA variants associated with age at onset of CFRD reside in and near SLC26A9.

196 Mean age at onset of clinical symptoms was 20.3 years in pati

197 The G allele of rs2238126 confers earlier age at onset of colorectal cancer (P=1.98 x 10(-6)) and

198 n in ductal cells of the pancreas delays the age at onset of diabetes, suggesting a CFTR-agnostic tre

199 Age at onset of disease decreases with increasing polygl

200 damage-response and repair pathways and the age at onset of disease.

201 ding dystonia aetiology, dystonia phenotype, age at onset of dystonia, and duration of dystonia prior

202 , PDLIM3, and SORBS2 as genetic modifiers of age at onset of EOAD and LOAD and provided modest suppor

203 terval before antiepileptic drug withdrawal, age at onset of epilepsy, history of febrile seizures, n

204 Median age at onset of eye disease was 60 months and duration o

205 netic modifiers that may delay or accelerate age at onset of familial Alzheimer disease (AD) by exami

206 he expanded CAG tract in HTT correlates with age at onset of Huntington's disease and other trinucleo

207 sine-adenine-guanine (CAG) repeat length and age at onset of Huntington's disease is well known, impr

208 Mean age at onset of late reactivation was 25.6 years (range,

209 tified that contribute to both LOAD risk and age at onset of LOAD.

210 mutated gene and type of mutation influence age at onset of Lynch syndrome-associated cancers.

211 eta-analyze studies evaluating the effect of age at onset of menopause and duration since onset of me

212 e-control, or cross-sectional) that assessed age at onset of menopause and/or time since onset of men

213 rol, or cross-sectional studies; reported on age at onset of menopause and/or time since onset of men

214 hat better course was associated with higher age at onset of mood symptoms, less lifetime family hist

215 ies have detected genetic loci modifying the age at onset of motor symptoms in HD, but genetic factor

216 In total, 275 patients with a known age at onset of neovascular AMD and a genetic risk analy

217 aphic, behavioral, and ocular factors on the age at onset of neovascular AMD.

218 and environmental risk factors influence the age at onset of neovascular AMD.

219 Median age at onset of neurologic symptoms was 58 (range, 27-83

220 kground have been shown to contribute to the age at onset of neurological symptoms.

221 Age at diagnosis; age at onset of night blindness, visual field loss, visu

222 Specifically, the age at onset of Parkinson's disease patients with pathog

223 Age at onset of Parkinson's disease was lower in patient

224 Carriers had an earlier age at onset of PD (P < .001) and were younger (P = .004

225 Age at onset of persistent wheeze in the first 3 years o

226 Age at onset of progressive biomarker changes that disti

227 calculated the weighted mean difference for age at onset of psychosis and age at initiation of smoki

228 h increased risk of psychosis and an earlier age at onset of psychotic illness.

229 , that smoking is associated with an earlier age at onset of psychotic illness.

230 FNA exposure was associated with higher mean age at onset of puberty in boys.

231 viously reported association between younger age at onset of RA and a RANKL promoter SNP that conferr

232 The age at onset of retinal dystrophy was variable.

233 No significant effects of age at onset of schizophrenia or medication dosage were

234 +/-5.0 years) was comparable to the reported age at onset of symptoms (22.1+/-3.1 years); in contrast

235 Mean age at onset of symptoms was 42.7 years.

236 carriers and noncarriers of rare variants in age at onset of symptoms, the family history of AMD, com

237 Furthermore, the age at onset of the 132 probands with genetic diagnoses

238 t smoothing curve to determine the order and age at onset of the biomarker changes, and the lowest ag

239 The mean age at onset of the hallucinations was 56 years, ranging

240 ground strongly influenced the magnitude and age at onset of these effects.

241 ation was apparent with offspring's smoking, age at onset of tobacco use, or changes in use between 2

242 The age at onset of treatment was 2-28 months.

243 Homozygosity was associated with earlier age at onset of tremor (P < 0.0001), more severe postura

244 statistical methods tailored to address the age at onset of various forms of G1D, associated manifes

245 A dramatic peak in age at onset of vision loss was found among males betwee

246 Mean age at onset of visual symptoms was 4.0 years, and media

247 in risk, incidence, prevalence, severity and age-at-onset of many diseases.

248 nes are thought to have a stronger effect on age-at-onset of PD than on risk, yet there has been a ph

249 easures such as COX-deficient fibre density, age-at-onset of symptoms and progression of disease burd

250 progression of the syndrome, we studied the ages at onset of 5 cardiometabolic diseases: abdominal o

251 ophic lateral sclerosis have highly variable ages at onset of disease, suggesting the presence of mod

252 nomial regression models estimated effect of age at onset on hospitalization rate and cumulative bed-

253 hippocampal volume, executive function, and age-at-onset only among males.

254 tecting genetic interactions associated with age-at-onset outcomes.

255 The groups had different ages at onset, overall survival, and associations with g

256 gnificantly higher than in those with a late age at onset (p = 0.00014).

257 ample) that is significantly correlated with age at onset (p=2 x 10(-89)).

258 n [SD] age, 57.2 [9.1] years), the mean (SD) age at onset per generation (from earliest-born to lates

259 he GRN group (r=0.22 individual and parental age at onset, r=0.18 individual and mean family age at o

260 at onset, r=0.18 individual and mean family age at onset, r=0.22 individual and parental age at deat

261 9orf72 group (r=0.32 individual and parental age at onset, r=0.36 individual and mean family age at o

262 at onset, r=0.36 individual and mean family age at onset, r=0.38 individual and parental age at deat

263 t, r=0.63 between individual and mean family age at onset, r=0.58 between individual and parental age

264 roup (r=0.45 between individual and parental age at onset, r=0.63 between individual and mean family

265 the CAG repeat expansion and to the residual age at onset (RAO): The difference between the observed

266 ith rLETM or rLETM-onset NMO were similar in age at onset, sex ratio, attack severity, relapse rate,

267 under an additive model with adjustment for age at onset, sex, and the first 4 principal components

268 Male sex, young age at onset, small bowel disease, more active disease,

269 s were excluded because they did not provide age at onset, so 626 289 were included in our analysis.

270 Even when adjusted for age at onset, symptom duration, and other demographic va

271 rrelated with each other (r=0.674), and with age at onset (TRACK-HD, r=0.315; REGISTRY, r=0.234).

272 y, p<0.0001); within the PSEN1 group, 72% of age at onset variance was explained by the specific muta

273 Age at onset, visual acuity survival time, visual acuity

274 f bipolar disorder was 24.5%, and the median age at onset was 20.7 years (range, 12.4 to 30.3).

275 The mean age at onset was 33 years (range, 17-43 years), and the

276 The mean age at onset was 34.1 years.

277 Compared with the reference group, the age at onset was 5.2 (95% CI, 2.8-7.7) years earlier for

278 e included; 1310 (66%) were women and median age at onset was 55 years (IQR 43-66).

279 Mean age at onset was 63 +/- 18 years; 52.5% were greater tha

280 The mean age at onset was 7.2 years (range, 1-10).

281 tients with PD, 275 were men, and the median age at onset was 73 years (interquartile range, 64-80 ye

282 h parkinsonism, 501 were men, and the median age at onset was 74 years (interquartile range, 66-81 ye

283 Age at onset was assessed retrospectively.

284 In ALF-CLD, the median age at onset was higher, alanine aminotransferase, album

285 Between July 1, 1987, and Oct 31, 2015, age at onset was recorded for 213 patients (168 with PSE

286 enic score in patients with an early disease age at onset was significantly higher than in those with

287 ies accounted for 12.4%, and their mean (SD) age at onset was similar to those of the HD-HTT group (4

288 The effects of age at onset were attenuated in youths with lower socioe

289 Cumulative incidence and median age at onset were determined for lifetime syndrome- and

290 The mean differences in the age at onset were determined using general linear models

291 Substantial differences in age at onset were present in 5 of 17 families, ranging f

292 found the most significant association with age at onset when grouping all polyglutamine diseases (H

293 Although estimation of age at onset will be an important factor in future pre-s

294 We tested 2 hypotheses regarding age at onset within familial epilepsies: (1) family memb

295 We compared age at onset within families.

296 ifference between age at assessment and mean age at onset within the family.

297 conomic disparities in disease incidence and age at onset within the same nation point to a potential

298 d as per national programme) on the basis of age at onset, year of birth, vaccination status, and eli

299 After pediatric onset MS (POMS) diagnosis, age at onset younger than 15 years and DMD exposure decr

300 ode of diverticulitis is rare (<5%) and that age at onset younger than 50 years and 2 or more recurre