ライフサイエンスコーパス: common variant

1 on studies reveals contradictory results for common variants.

2 -15% of the cis heritability mediated by all common variants.

3 MDD have yet to identify robustly associated common variants.

4 the two reference panels were comparable at common variants.

5 thogenic copy number variation but less than common variants.

6 with larger effects (>1.5 mm Hg/allele) than common variants.

7 pipelines and being ill-suited for detecting common variants.

8 l effect that are either common or tagged by common variants.

9 han and independent of previously identified common variants.

10 the heritability remains unaccounted for by common variants.

11 ociation signals and is independent of known common variants.

12 e variants than for predicting the impact of common variants.

13 greater than ten times the average effect of common variants.

14 t local interactions to a larger extent than common variants.

15 es of insulin sensitivity would detect novel common variants.

16 We identified 16 common variants (8 of which were coding variants) associ

17 The common variant A1073 is associated with increased suscep

18 Both of the common variants, A1073 and P1092, induced a gain-of-chan

19 47M) and increased Abeta42 secretion for the common variant (A528T).

20 We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases a

21 This study was undertaken to identify common variants acting through the genotype of the affec

22 d queried to extract information such as the common variants among individuals or groups of individua

23 ve led to method development beyond standard common variant analysis, including single-phenotype rare

24 e-phenotype rare variant and multi-phenotype common variant analysis, with the latter increasing powe

25 The analysis shows that common variant and rare variant studies require similarl

26 designed for testing the interaction between common variants and are difficult to apply to rare varia

27 We selected 135 of the rare and common variants and genotyped them in the Mid-South Toba

28 mechanisms of 178 known associations between common variants and glycemic traits and identify new loc

29 Both common variants and low-frequency coding variants in CPN

30 The proposed method is applicable to both common variants and rare variants and can incorporate bi

31 fficiency, applicability (accommodating both common variants and variants with low MAF) and statistic

32 ent standard genotype expression studies for common variants and, importantly, also allow measuring t

33 riteria to determine quality for rare versus common variants) and thereby provides insight into seque

34 lar amounts of phenotypic variance as single common variants, and (ii) that some common variant assoc

35 e site alter splicing nine times as often as common variants, and missense exonic disease mutations t

36 meta-analyses to identify associations with common variants, and single variant and gene-based burde

37 sider issues of study design, and we discuss common variant approaches, including candidate gene stud

38 GWAS heritability analysis suggested that common variants are associated with substantial variatio

39 However, when both rare and common variants are considered, it is not optimal to tru

40 across the genome; genotypes for six million common variants are imputed using 1000 Genomes Project a

41 Our data suggest that, while common variants are strongly contributing to risk for ns

42 Studies of common variants are typically referred to as genomewide

43 It is unknown why these common variants are well tolerated, even though some aff

44 cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for spora

45 Sequencing identified 1 common variant associated with FEV1/FVC independent of t

46 GCKR Leu446Pro is a common variant associated with reduced GCKR function, in

47 ation studies have identified CRP-associated common variants associated in approximately 25 genes.

48 Histone QTLs are enriched for common variants associated with autoimmune diseases and

49 ation studies (GWAS) have identified several common variants associated with bipolar disorder (BD), b

50 More than 90% of common variants associated with complex traits do not af

51 2%; P = 8.13 x 10(-8)), suggesting that many common variants associated with CRC risk remain to be de

52 Common variants associated with ID risk in the populatio

53 A number of common variants associated with late-onset AD have been

54 A genetic risk score, based on common variants associated with LOAD, was used to accoun

55 ies have successfully identified a subset of common variants associated with lung cancer risk.

56 rom patients with monogenic epilepsy and for common variants associated with polygenic epilepsy.

57 With >100 common variants associated with schizophrenia risk, esta

58 heimer's disease that exploited knowledge of common variants associated with the same disease.

59 matory bowel disease exploiting knowledge of common variants associated with the same disease.

60 enome-wide association studies have detected common variants associated with this disorder, but a lar

61 ssociation studies (GWAS) have uncovered >65 common variants associated with type 2 diabetes (T2D); h

62 ssociation studies have identified scores of common variants associated with type 2 diabetes, but in

63 In conclusion, this study revealed common variants associated with urinary levels of TFF3,

64 se-control data sets for fine mapping of the common variant association signal using HapMap SNPs.

65 ide association studies (GWASs), also called common variant association studies (CVASs), have uncover

66 Common variant association studies have linked approxima

67 to control for population stratification in common variant association studies, these methods are no

68 e actually closely related, we use the terms common variant association study (CVAS) and rare variant

69 Our integration of common variant association, expression and orthogonal pr

70 ers of common variant associations, and that common variant associations are rarely explained by sing

71 s single common variants, and (ii) that some common variant associations could be explained by low-fr

72 Very few (30 of 1232; 2%) common variant associations were fully explained by low-

73 We identified 22 common variant associations with peptide levels (P-value

74 ently large to detect substantial numbers of common variant associations, and that common variant ass

75 African ancestry implies a shared functional common variant at most loci.

76 Here we identify common variants at 11q22.2 within MMP20 that associate w

77 of urinary bladder cancer (UBC) have yielded common variants at 12 loci that associate with risk of t

78 Known correlations between AF and common variants at 4q25 were replicated.

79 Common variants at many loci have been robustly associat

80 e to MI risk in individual families, whereas common variants at more than 45 loci have been associate

81 lyses demonstrated significant enrichment of common variants between fat distribution and endometrios

82 improve imputation quality of rare and less common variants, but will also increase the computationa

83 Most SNPs in minimotif were common variants, but with minor allele frequencies gener

84 We identified common variants by fixed-effect inverse-variance meta-an

85 CF7L2 confer the strongest risk of T2D among common variants by presumed effects on islet function, t

86 irstly, we show that on the liability scale, common variants collectively explain at least 26% (stand

87 ic Alu insertion variants that function in a common variant, common disease paradigm.

88 statistical power to detect large numbers of common variant-common phenotype associations-11 132 cis-

89 efects, but it is unclear whether individual common variants confer a large risk.

90 results demonstrate that new associations at common variants continue to identify genes relevant to t

91 Large-effect rare mutations and small-effect common variants contribute to risk.

92 To identify common variants contributing to normal variation in two

93 directed association analyses did not detect common variants contributing to social responsiveness.

94 iation analyses were performed to search for common variants contributing to social responsiveness.

95 ased) may, therefore, be required to uncover common variants contributing to the risk of these relati

96 protein-altering properties, we selected 21 common variants covering the complete ADAMTS13 gene for

97 rast, healthy individuals homozygous for the common variant D10N, located in the ACT1 tumor necrosis

98 This epistatic interaction of rare and common variants defines the most frequent cause of midli

99 At the end of the era of common variant discovery for T2D, polygenic scores can p

100 ) as recombinant proteins, as well as a less common variant E168G (rs200673353, MAF = 0.001), and stu

101 o methods suggested near complete sharing of common variant effects across sexes, with rg estimates c

102 Combining these data with previous common variant evidence, we suggest that epigenetic dysr

103 All common variants explain >/=20% of the variance in TSH an

104 Previously identified common variants explain only a small fraction of the tra

105 These loci, comprising common variants, explain <10% of the phenotypic variance

106 arger effect on SCr than previously reported common variants, explaining 0.5% of the variability of S

107 , we conclude that it is unlikely any single common variant explains >4.4% of the variation in the ou

108 on studies have identified only 1 conclusive common variant for nsCPO, that is, a missense variant in

109 work and across multiple ethnicities to find common variants for depressive symptoms.

110 larger than the mean of previously reported common variants for lumbar spine BMD (rs11692564(T), MAF

111 nsive layout for the genetic architecture of common variants for psoriasis.

112 6% and the proportion of heritability due to common variants from 41% to 68% (mean 60%).

113 in illicit drug use and, when combined with common variants from a genome-wide array, accounted for

114 ain a model of 'good quality' variants using common variants from HapMap, and prioritizes and calls t

115 While common variants from healthy individuals rarely affect i

116 We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium

117 tical volume measures either at the level of common variant genetic architecture or for single geneti

118 Common variant genome-wide association studies (GWASs) h

119 onent of WES studies and is used to estimate common variant genotypes to generate additional markers

120 Scores were based on 11 to 719 common variants (>/=5%) associated with AF at P values r

121 Many common variants have been associated with hematological

122 Although dozens of common variants have been associated with increased risk

123 , vitiligo, psoriasis and atopic dermatitis, common variants have been identified that are associated

124 Both rare and common variants have effect on the function of the chann

125 et and further reveal the complex roles that common variants have in complex diseases, such as CKD.

126 ge-scale genome-wide association studies for common variants have not revealed its genetic basis.

127 cases and controls, more than 100 associated common variants have now been identified.

128 These common variants have replicable but small effects on LOA

129 regression was used to calculate genome-wide common variant heritability (single-nucleotide polymorph

130 y for 24 of these genes explicitly evaluated common variant hypotheses about schizophrenia.

131 lationship in humans, (2) the common-disease-common-variant hypothesis, (3) the current ability of 'o

132 vel linkage analysis using 4,328 independent common variants identified a 20-cM region on chromosome

133 6%, and shifted the mutational burden toward common variants; (ii) deleterious mutations have been in

134 We also identified a common variant in IRF7 that is associated in trans with

135 To investigate whether common variants in 7 vitamin D and calcium pathway genes

136 ge-scale replication studies have identified common variants in 79 loci associated with breast cancer

137 Common variants in 94 loci have been associated with bre

138 We used imputed genotypes of common variants in a discovery sample of 3443 individual

139 ify important genes containing both rare and common variants in a longitudinal design.

140 Thus, it appears that rare and common variants in a single gene--FBN2--can contribute t

141 te that rare variants alone or combined with common variants in a subset of 30 biological candidate g

142 ration of medication and was driven by three common variants in ABCA4 (c.5682G > C, c.5814A > G, c.58

143 WAS associations with pulmonary function for common variants in ADAM19 and HTR4.

144 riven association study supports the role of common variants in arsenic metabolism, particularly AS3M

145 Meta-analysis of common variants in each region identified statistically

146 Common variants in EBF1, EEFSEC, and AGTR2 showed associ

147 he total variance of SHR can be explained by common variants in European and African Americans, respe

148 Common variants in Hey2 are associated with Brugada synd

149 e association between the LP trait and three common variants in intron 13 (C-14010, G-13907, and G-13

150 Common variants in IRF6 and GRHL3 also contribute risk f

151 s-associated locus that supports the role of common variants in non-coding sequences in influencing c

152 han the largest effect sizes seen with other common variants in other populations.

153 Common variants in the 9p21.3 locus have been reported t

154 t a statistically significant association of common variants in the ABCA4 gene with retinal disease,

155 architecture involving at least hundreds of common variants in the coordinated timing of the puberta

156 ss (ESR2) gene, as well as a set of rare and common variants in the Epoxide Hydrolase 2 (EPHX2) gene,

157 We have identified common variants in the FER gene that associate with a re

158 independent pneumonia cohorts (cohorts 1-3), common variants in the FER gene were strongly associated

159 Common variants in the FTO gene are associated with adip

160 study failed to find an association between common variants in the functional region of IL27 and CAD

161 rogeneity between the two ancestries for the common variants in the GTF2I locus (PHeterogeneity = 9.6

162 Common variants in the hepatocyte nuclear factor 1 homeo

163 Common variants in the TMEM106B gene were previously dis

164 Common variants in the UMOD gene encoding uromodulin, as

165 These data indicate that common variants in the UMOD promoter region may influenc

166 Further analysis of other common variants in these two regions suggested that intr

167 The mechanism linking common variants in this region with coronary risk is not

168 mprehensively investigate the association of common variants in ZPR1 with T2DM in Han Chinese individ

169 We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns

170 We identified 44 regions with common variants, including two regions harboring additio

171 Many common variants influence total height, but the effects

172 To identify common variants influencing colorectal cancer (CRC) risk

173 f this study was to examine whether a 9p21.3 common variant interacts with socioeconomic status (SES)

174 he mean heritability of LSLs attributable to common variants is moderately high ([Formula: see text]

175 PS-NH2) polystyrene, the latter being a less common variant, known to induce cell death in several in

176 ular genetic analyses suggest that autosomal common variants largely do not explain the sex bias in A

177 Within this locus, two common variants located at the proapoptotic BCL2L11 gene

178 Plasma lipids were associated with common variants located in known candidate genes, but no

179 Here, we examine the contribution of common variants located under the 13q32-34 linkage regio

180 up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that col

181 ci (95% of rare variants validate; across 19 common variant loci, the mean precision and recall are 9

182 nalyses included single variant analysis for common variants (MAF > 0.01) and rare variant analysis f

183 enomes Project even after adjusting for more common variants (MAF > 1%).

184 ta sets, we report meta-analysis results for common variants (MAF>/=1%) associated with TSH and FT4 (

185 common SNPs, suggesting both common and less-common variants may associate with disease risks and phe

186 rs remains largely unknown and both rare and common variants may be contributing.

187 In conclusion, common variants may contribute to TOF in 22q11.2DS and m

188 These results suggest that common variants may explain at least half the heritabili

189 Common variants (minor allele frequency > 5%) were analy

190 For common variants (minor allele frequency >/=1%), we perfo

191 Primary analyses focused on 438 common variants (minor allele frequency >/=1%), which we

192 Common variants (minor allele frequency >5%) were analyz

193 ed using logistic regression with individual common variants (minor allele frequency (MAF)0.05), aggr

194 Tests of approximately 170 000 common variants (minor allele frequency, >/=1%; statisti

195 logic functions that were overrepresented by common variants modestly associated with pancreatitis in

196 e discovery of trait- and disease-associated common variants, much of the genetic contribution to com

197 Genotypes of a common variant near BMP2 that is strongly associated wit

198 dent of the effect of a previously described common variant near CYP2R1.

199 Common variants near GPR126/ADGRG6 (encoding the adhesio

200 Within a cluster of strongly associated common variants near NOG, we found that one, rs227727, d

201 rge data set (UK Biobank), we here show that common variants near the apolipoprotein E and nicotinic

202 sity risk is heritable and that, of the many common variants now associated with body mass index, tho

203 tients with mycosis fungoides (MF), the most common variant of CTCL.

204 es many key features of mycosis fungoides, a common variant of cutaneous T-cell lymphoma.

205 with nonalcoholic fatty liver disease, and a common variant of GKRP with altered binding affinity for

206 The most common variant of human PRDM9, allele A (hPRDM9A), recog

207 Here, we systematically explored common variants of genes representing molecular targets

208 -8)), we confirmed associations for reported common variants of HNF1A, CRP, IL6R and TOMM40-APOE.

209 Common variants of human fat mass- and obesity-associate

210 ngs highlight the predominant role played by common variants of modest effect and the diversity of bi

211 Our results show that common variants of NEFL influence neuroblastoma suscepti

212 orders involves the combined effects of many common variants of small effect, as well as rare and de

213 adults, and whether response was related to common variants of the TAS2R31 bitter taste receptor gen

214 hypothesis testing functionalities for four common variants of threshold regression models.

215 pretreatment screening (intervention) for 3 common variants of TPMT (TPMT*2, TPMT*3A, and TPMT*3C).

216 imate the cumulative genetic contribution of common variants on AMD risk for multiple pathways relate

217 ul framework for understanding the effect of common variants on cell types contributing to complex tr

218 In this paper, we reassess the role of common variants on epilepsy using extensions of heritabi

219 study the relative contribution of rare and common variants on human phenotypes, as well as parental

220 ation, underscoring the cumulative effect of common variants on redundant pathways as opposed to driv

221 Our results suggest that there are common variants outside of the AS3MT region that influen

222 d with FL and provide evidence that multiple common variants outside the HLA region make a significan

223 islet zinc transporter (ZnT8) and harbors a common variant (p.Trp325Arg) associated with T2D risk an

224 d associations of Lp(a)-cholesterol with 118 common variants (P = 5 x 10(-8) to 3.91 x 10(-19)) spann

225 anding the physiological mechanisms by which common variants predispose to type 2 diabetes requires l

226 ese findings demonstrate that in addition to common variants, rare deleterious variants in PTPN22 exi

227 No common variants reached genome-wide significance in the

228 roblastoma, demonstrating that the inherited common variants reported contribute to the origin of int

229 particular, we collected approximately 4200 common variants reported in genome-wide association stud

230 Moreover, the common variant rs10423928 in the GIPR gene is associated

231 A common variant (rs1619661; coded allele: T) significantl

232 alysis confirmed the risk effect of the only common variant (rs16969968, European ancestry: odds rati

233 4.1x10(-6)) and were independent of a nearby common variant (rs17367504) previously associated with B

234 with minor allele frequency (MAF) < 1% and 1 common variant (rs2298813-A528T) with MAF = 14.9% segreg

235 iation was independent of the T1D-associated common variant rs2476601.

236 We selected 2 common variants (rs3918226 in NOS3 and rs7692387 in GUCY

237 onsiderable allelic heterogeneity, with both common variants [rs4807216 (P(Male) = 2 x 10(-49), Beta:

238 A common variant, rs4921437 at 5q33.3, was significantly a

239 In human studies, the G-allele of a common variant (rs53576) in the oxytocin receptor gene (

240 identified a strong protective signal for a common variant (rs8056814) near CTRB1 associated with a

241 We used the common variant rs911119 in CST3 as an instrumental varia

242 apping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter a

243 ation in TYR, all were found to have the two common variants S192Y and R402Q.

244 A 9p21.3 common variant seems to interact with SES to influence C

245 None of the genotyped common variants showed significant association with smok

246 ssociation studies have identified promising common variant signals, these explain only a fraction of

247 9 genes with rare variants and 67 genes with common variants significantly associated with the 46 tra

248 iance for lithium-responsive BD explained by common variants ('SNP heritability') as 0.25 and 0.29 us

249 with genotyped variants and imputing to all common variants spanning ETS1.

250 ree method of interrogating large numbers of common variants spanning the entire genome in disease an

251 Here we integrated results from common variant studies of schizophrenia (33,636 cases, 4

252 ci that are genome-wide significant (GWS) in common variant studies of schizophrenia genome-wide asso

253 Further analyses based on common variants suggested that the genome-wide genetic c

254 ariants in BPD, in contrast with the role of common variants targeted by genome-wide association stud

255 rgely driven by our finding that more recent common variants tend to have lower LLD and to explain mo

256 are variants tend to reside in CDSs, whereas common variants tend to reside in the 3' UTRs.

257 ciation studies have identified more than 70 common variants that are associated with breast cancer r

258 duals and 114 cell types to identify >60,000 common variants that directly influence transcription fa

259 ow identified epistatic interactions between common variants that increase the risk of a neuropsychia

260 de association studies (GWAS) have found few common variants that influence fasting measures of insul

261 We did not identify individual common variants that reached exome-wide significance usi

262 Only common variants that represent or are in strong linkage

263 nt's exome data and filtering non-exomic and common variants, the median rank improved to 3.

264 e have primarily tested for association with common variants, the results of which explain only a por

265 xist for testing cross-phenotype effects for common variants, there is a lack of similar tests for ge

266 We focused on common variants; thus, additional studies are needed to

267 ding of the individual contributions of each common variant to the cellular phenotypes, and interacti

268 However, linking common variants to genes that are causal for CKD etiolog

269 pe 1 diabetes genetic risk score based on 29 common variants to identify individuals of white Europea

270 ic illnesses, ranging from small-effect-size common variants to larger-effect-size rare mutations.

271 proportion of the phenotypic variance due to common variants to range from 25% to 56% and the proport

272 Furthermore, all common variants together captured 60% of heritability.

273 ciation studies (GWAS) in PD have identified common variants underlying disease susceptibility, while

274 rol association study to address the role of common variants using a discovery cohort of 778 cases an

275 The most common variant was right posterior sectoral duct (RPSD)

276 and multiapical pyramidal neurons, the most common variant was the typical pyramidal neuron.

277 Three common variants were associated with PR and QRS interval

278 sizes, p-values and confidence intervals of common variants were evaluated by logistic regression (F

279 Two notable common variants were identified: rs10791286, an intronic

280 n studies have had limited success detecting common variants which influence susceptibility.

281 of PTM minimotif sites in histone tails were common variants, which has the potential to differential

282 optimal strategy for joint testing rare and common variants, which was observed to depend on linkage

283 risk of developing MS is driven by multiple common variants whose biological effects are not immedia

284 there are many additional disease-associated common variants whose effects are too small to detect wi

285 OF and mortality postinjury and represents a common variant with prognostic potential.

286 gression) to conduct a genome-wide search of common variants with age-dependent effects on systolic (

287 Across the genome, we found only a few common variants with large effects on age-specific morta

288 udies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are asso

289 populations have been underpowered to detect common variants with moderate impact on disease outcome

290 Both rare variants with large effect and common variants with small effect contribute to genetic

291 Comparing the heritability explained by the common variants with that from family studies, a fractio

292 Comparing the heritability explained by the common variants with that from twin and family studies,

293 the European population can be attributed to common variants, with 25.5% contributed to by the 24 ris

294 variants are 10 times larger than those of common variants, with the largest effect observed in car

295 and found support for an association with a common variant within 1p21.3.

296 the localized genetic variance explained by common variants within haplotype blocks, integrating the

297 they provide tools to prevent this issue for common variants within the HLA-A*02 allele group.

298 Genetic studies have identified common variants within the intergenic region (HBS1L-MYB)

299 ed studies to resolve the smaller effects of common variants within the size of cohorts that can be r

300 We provide evidence that 2 common variants within the TREM locus are associated wit