ライフサイエンスコーパス: common variant

1 risk score (PRS) methods to examine rare and common variants.

2 to have larger per-allele effect sizes than common variants.

3 ty remaining after accounting for identified common variants.

4 of most human disease cannot be explained by common variants.

5 y the cumulative susceptibility conferred by common variants.

6 ariance as well as an effect size similar to common variants.

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

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

9 es of insulin sensitivity would detect novel common variants.

10 on studies reveals contradictory results for common variants.

11 -15% of the cis heritability mediated by all common variants.

12 MDD have yet to identify robustly associated common variants.

13 the two reference panels were comparable at common variants.

14 thogenic copy number variation but less than common variants.

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

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

17 sociation signals are largely independent of common variants.

18 anked among the largest reported to date for common variants.

19 ue to linkage disequilibrium with the nearby common variants.

20 We examined copy number, rare, and common variants.

21 o localize trait loci, with primary focus on common variants.

22 e associations for GPCRs that lack impactful common variants.

23 e sequencing studies strongly implicate both common variants(2-4) and rare de novo variants(5-10) in

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

25 or to psychiatric disease pathogenesis, from common variants acting as expression quantitative trait

26 nct genome-wide significant loci that harbor common variants affecting the metabolism of clozapine or

27 Common variants among affected individuals, excluding th

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

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

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

31 We computed associations between 632,574 common variants and 541 diagnosis codes.

32 highlight the cell-type-specific effects of common variants and demonstrate a synergistic effect bet

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

34 ed on human genetics are limited in scope to common variants and in resolution by linkage disequilibr

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

36 There is growing evidence that common variants and rare sequence alterations in regulat

37 riants underlying small vessel disease, both common variants and those with rare and low frequency.

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

39 , P<0.001 versus Genome Aggregation Database common variants) and were associated with similar hypert

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

41 chieves 99.67, 95.78, 90.53% F1-score on 1KP common variants, and 98.65, 92.57, 87.26% F1-score for w

42 isogenic neural cells to study the impact of common variants, and integration of advanced genetics an

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

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

45 calculated polygenic risk scores (PRSs) for common variants, and validated the association of low-fr

46 or psychiatric gene mapping that complements common variant approaches and WGS in unrelated individua

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

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

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

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

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

52 TWAS have thus far focused on common variants as available from GWAS.

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

54 e cell lines for CREs overlapping nearly all common variants associated with any of five independent

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

56 metric traits, independent of the effects of common variants associated with body-mass index.

57 The majority of common variants associated with common diseases, as well

58 ion (PBI) has been successful in identifying common variants associated with complex diseases; howeve

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

60 Common variants associated with ID risk in the populatio

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

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

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

64 Since prostate cancer is highly heritable, common variants associated with prostate cancer have bee

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

66 ciation with reduced SUA levels, and PRSs of common variants associated with SUA levels were signific

67 Common variants associated with T2D in both East Asian a

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

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

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

71 Common variant association studies have linked approxima

72 However, common variant association studies in schizophrenia have

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

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

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

76 ect mutations in these regions-leaves behind common-variant associations in thousands of less critica

77 s often differ from those with the strongest common-variant associations.

78 iant rs7173049-G, which represents the first common variant at the broad LOXL1 locus without allele e

79 We identified a common variant at the PPARA locus (rs6008845, C/T) displ

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

81 rders associated with stroke and have linked common variants at approximately 35 genetic loci to stro

82 n ~ 90% imputation accuracy for heterozygous common variants at coverage 0.05 x and > 97% accuracy at

83 IL-7 is a key factor in T cell immunity and common variants at IL7R, encoding its receptor, are asso

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

85 even experimental assays to characterize all common variants at the multiple disease-associated TNFAI

86 Common variants at the VWF, CLEC4M, and STAB2 loci, whic

87 novel high-penetrance monogenic variants and common variants (at the PTPN2 and SOCS1 loci).

88 ut of Africa harbors a large fraction of the common variant attributable heritability.

89 t be corrected using principal components of common variants because they are uninformative about rec

90 Next, we investigated genome-wide sharing of common variants between schizophrenia and immune disease

91 nd showed high-quality genotypes not only on common variants but also on rare variants.

92 isk factors of small effect size revealed by common variants but also, ultrarare variants likely resu

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

94 Val) and c.2045 T > A (p.Ile682Asn), and one common variant c.1414G > A (p.Asp472Asn).

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

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

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

98 To identify common variants contributing to normal variation in two

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

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

101 c, in a mouse AD model expressing either the common variant (CV) or the R47H variant of TREM2.

102 FOXN3 and CCDC88C as candidate genes using a common variants (CVs)-based approach.

103 In 1,122 trios for which genome-wide common variant data were available, schizophrenia and bi

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

105 Adding an extended PRS based on 592,475 common variants did not significantly improve the predic

106 S accuracy continue to increase with further common variant discovery, PRS could complement establish

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

108 For the most common variant (e756del), we compared phenotypes between

109 due to a polygenic component comprising many common variants each having small effects.

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

111 iants (44% coding) were ~8 times larger than common variant effects and indicate potential candidate

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

113 with Mn supplementation, suggesting that the common variant exists on a spectrum of hypofunction with

114 Individual risk-associated common variants explain only a tiny fraction of individu

115 l AF penetrance, the additive effect of many common variants explains a larger proportion of genetic

116 an be paradoxically determined by relatively common variants, following a quasi-Mendelian model linki

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

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

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

120 It is thought that many common variant gene loci of weak effect act additively t

121 -analyses summarized association results for common variants; gene-based burden and sequence kernel a

122 o investigate overlap at the level of global common variant genetic architecture and at the single va

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

124 ple (n = 24,706) and then in a subgroup with common variant genetic risk scores, rare copy-number var

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

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

127 Many common variants have been associated with hematological

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

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

130 D) following trauma is heritable, but robust common variants have yet to be identified.

131 Although the experience with common variants helped establish relevant standards for

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

133 The liability scale common variant heritability estimate for Lifetime Anxiet

134 ith runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic var

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

136 6%, and shifted the mutational burden toward common variants; (ii) deleterious mutations have been in

137 We propose that the links between rare and common variants implicated in psychiatric disease risk c

138 ly decreases catalytic function, mirroring a common variant in humans that impairs 2-5A synthesis thr

139 t participants, unraveling two novel loci; a common variant in RARB locus for carbohydrate intake and

140 at results from both folate deficiency and a common variant in the methylenetetrahydrofolate reductas

141 A prioritized deleterious missense common variant in the olfactory receptor gene OR2AG2 tha

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

143 Common variants in 94 loci have been associated with bre

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

145 ion (FDR p < 0.05) of the CTD subset with 62 common variants in a single linkage disequilibrium (LD)

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

147 te a two-step pipeline for the imputation of common variants in ancient genomes at 0.05-1 x coverage.

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

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

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

151 al component to the aetiology by implicating common variants in genes encoding placental proteins (na

152 Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along

153 i-trait analysis methods focus on individual common variants in genome-wide association studies.

154 The joint effects of common variants in genomic regions containing susceptibi

155 Common variants in GRK5 may modify clinical outcomes wit

156 ry regions to investigate the association of common variants in HTR7 and clinical response to four se

157 Common variants in IRF6 and GRHL3 also contribute risk f

158 le a single pipeline is capable of analyzing common variants in most genomic regions, our findings de

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

160 Our results identify a set of common variants in PATJ gene associated with 3-month fun

161 Common variants in STAB2 have been previously associated

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

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

164 Common variants in the TMEM106B gene were previously dis

165 Common variants in the UMOD gene encoding uromodulin, as

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

167 been for large rare structural variants and common variants in well-imputed regions with few genes i

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 Though common variants individually have small effects on disea

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

172 e variance in disease liability explained by common variants is higher for COA (onset at ages between

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

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

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

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

177 However, a significant common variant locus was identified at 6p21.32 (rs354063

178 Overall, ~70% of h2SNP is represented by common variants (MAF > 0.01) and 30% by rare variants.

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

180 Common variants (MAF > 0.05) were adjusted for age at ca

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

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

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

184 etabolomics profiling in 490 elite athletes, common variant metabolic quantitative trait loci (mQTLs)

185 d pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05).

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

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

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

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

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

191 This is the first report of common variant mQTLs linked to elite athletic performanc

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

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

194 P) and gene-based analysis were performed on common variants near 54 syndromic obesity genes.

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

196 Common variants near TMEM106B associate with risk of dev

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

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

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

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

201 Plaque psoriasis is the most common variant of psoriasis.

202 Common variants of about 20 genes contributing to AD ris

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

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

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

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

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

208 and their neural derivatives to characterize common variants on chromosome 3p22 that have been associ

209 We report two significant common variants, one in MT-ATP6 associated (p <= 5E-04)

210 ls that would be missed by testing on either common variants or low-frequency variants alone.

211 assessed PS19 mice expressing human TREM2CV (common variant) or human TREM2R47H.

212 Yeast and mouse mimics of the most common variant, P286R, produce mutator effects far excee

213 h polygenic score (cumulative impact of many common variants) pathways for early-onset myocardial inf

214 Severe mutator effects of the most common variant, Polepsilon-P286R, modeled in yeast sugge

215 e found overall evidence for transmission of common variant polygenic risk of BD in our full sample (

216 We show that a common variant polygenic risk significantly contributes

217 atures might explain the association between common variant (polygenic) risk for ADHD and its core sy

218 the effects of schizophrenia (SZ)-associated common variants predicted to function as SZ expression q

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

220 total n = 231) of individuals with PFAPA for common variants previously associated with two other oro

221 Using published common variant, rare coding variant and copy number vari

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

223 No common variants reached genome-wide significance in the

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

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

226 We conclude that common variant risk associated with epilepsy is signific

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

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

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

230 4.1x10(-6)) and were independent of a nearby common variant (rs17367504) previously associated with B

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

232 In contrast, the common variant rs2853669 (at position -245) was signific

233 Further, we identify a common variant (rs2997325) influencing PAM that also aff

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

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

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

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

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

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

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

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

242 However, all known PEX-associated common variants show allele effect reversal in populatio

243 t, previously unreported loci, including two common variant signals from stratified analysis of Afric

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

245 9 genes with rare variants and 67 genes with common variants significantly associated with the 46 tra

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

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

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

249 variants have been associated with DCM, but common variant studies of the disease have yielded few a

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

251 ds that have been applied to microsatellite, common variant, targeted resequencing and whole-exome an

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

253 PRNP and GAL3ST1 are likely to be caused by common variants that alter the protein sequence, whereas

254 elopment is attributable to a high burden of common variants that confer a specific risk for BD.

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

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

257 Many GPCRs lack common variants that lead to reproducible genome-wide di

258 studies (GWAS) have identified both rare and common variants that lengthen telomeres as being strongl

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

260 Only common variants that represent or are in strong linkage

261 Compared with common variants, the findings for or even applications t

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

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

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

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

266 Finally, the contributions of both rare and common variants to congenital abnormality and adult onse

267 es focused on insulin resistance have linked common variants to genes implicated in adipose biology a

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 polygenic predictor comprised of 2.1 million common variants to quantify this susceptibility and test

271 luate the relative contributions of rare and common variants to risk of BD, BD subtypes, and psychosi

272 This begins to explain the contribution of common variants to the variable penetrance and phenotypi

273 AS markers appear to confer little risk, but common variants together account for about 25% of the he

274 In the last decade, a large number of common variants underlying complex diseases have been id

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

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

277 In contrast to analyzing common variants using NPL, where loci localize to large

278 determined component of gene expression from common variants using PrediXcan (1) and determined genes

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

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

281 uding low-frequency variants, in addition to common variants, we increase the predictivity of gene ex

282 iants are harder to genotype accurately than common variants, we were able to classify as high qualit

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

284 e protein-altering variants in 7 genes where common variants were previously associated with T1R.

285 he exception of good imputation accuracy for common variants when a closely ancestry matched referenc

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

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

288 quently lost in colorectal cancers and has a common variant with 10-fold reduced activity.

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

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

291 y was powered to detect interactions between common variants with odds ratios >1.2, so these findings

292 Most of these SNPs are common variants with small to moderate effect sizes.

293 f the heritability is due to huge numbers of common variants with tiny effect sizes.

294 otype resources provides good imputation for common variants with well-selected reference panels with

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

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

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

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

299 Four novel common variants within the regions of PIAS1, RGN (two va

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