ライフサイエンスコーパス: CFH

1 CFH quality and GC/GT practices for patients with breast

2 CFH(-/-).C3(-/-) mice had significantly more Abeta on Br

3 CFH, ARMS2, and C3 were associated with specific feature

4 CFH, secreted by many cell types, including those of the

5 CFH-deficient mice (CFH(-/-)) develop uncontrolled C3 ac

6 CFH/CFHR rearrangements were associated with poor clinic

7 Patients with 0 or 1 CFH risk alleles and 1 or 2 ARMS2 risk alleles benefited

8 For patients with 0 or 1 CFH risk alleles and no ARMS2 risk alleles, neither zinc

9 Analysis of (1) CFH rs1061170 and rs1410996 combined with ARMS2 rs104909

10 Having unhealthy lifestyles and 2 CFH risk alleles increased AMD risk (primarily in the ea

11 ciated with a risk ratio (RR) of 1.83 with 2 CFH risk alleles (P = 1.03E-02), compared with outcomes

12 For patients with 2 CFH risk alleles and 1 or 2 ARMS2 risk alleles, no treat

13 Patients with 2 CFH risk alleles and no ARMS2 risk alleles progressed mo

14 100 eyes of 51 patients with AMD carrying a CFH variant (mean [SD] age, 66.7 [12.1] years; 64.7% fem

15 complement-mediated hemolysis of ES PspCN, a CFH-binding Streptococcus pneumoniae protein domain, bin

16 support regarding the importance of accurate CFH and the benefits of proactive high-risk patient mana

17 a show that both uncontrolled C3 activation (CFH(-/-)) and complete absence of C3 (CFH(-/-).C3(-/-) a

18 ns across the region, including the adjacent CFH-related genes CFHR3 and CFHR1, which may themselves

19 These patients have autoantibodies against CFH domains 19 and 20 (CFH19-20), which are nearly ident

20 tors H and C3 (CFH(-/-).C3(-/-)), CFH alone (CFH(-/-)), or C3 alone (C3(-/-)), and wild-type mice (C5

21 Although CFH(-/-) mice had plasma depleted of both C3 and C5, CFH

22 nd heterozygous genomic rearrangements among CFH and CFHR genes in 4.5% of patients with aHUS.

23 In subgroup analysis, CFH Y402H polymorphism was more likely to be a predictor

24 , which remain significant in this analysis: CFH R1210C (OR = 18.82, P = 3.5 x 10-07), C3 K155Q (OR =

25 etic polymorphisms (CFH-402His [P = .04] and CFH-62Ile [P = .04]) and demographic factors (sex [P = .

26 However, for Fe2(SO4)3 and CFH-12 liming was also necessary to prevent mobilization

27 Intriguingly, alleles in ARMS2 and CFH that confer risk of AMD may be protective for cCSC,

28 viously identified associations of ARMS2 and CFH with type of choroidal neovascularization on fluores

29 ssociated with genetic variants in ARMS2 and CFH, indicating a genetic and pathophysiologic overlap b

30 e complement Factor H (CFH) gene cluster and CFH autoantibodies in six children with post-HSCT TMA.

31 s reported significantly less discomfort and CFH (P </= 0.02) and took a significantly lower dose of

32 id levels, systemic and dietary factors, and CFH rs1061170 and ARMS2 rs10490924 polymorphisms.

33 action between glycosaminoglycans (GAGs) and CFH plays an important role in disease pathology of AMD.

34 onfirm that enhanced fucosylation of HPX and CFH may serve as an indicator of premalignant liver dise

35 has been implicated in its pathogenesis, and CFH polymorphisms contribute substantially to risk.

36 were used to analyze cytokines in plasma and CFH Y402H was genotyped.

37 24, HTRA1 SNPs rs11200638 and rs3793917, and CFH SNPs rs393955, rs1061170, and rs2274700 were associa

38 een current smoking or pack-years smoked and CFH or ARMS2 genotype.

39 native pathway of the complement system, and CFH polymorphisms increase the genetic risk of age-relat

40 ARMD and TMA, we hypothesized that VEGF and CFH interact.

41 PspCN did not improve the DAA of any CFH variant on ES Conversely, PspCN boosted the CA, on E

42 own previously to associate with CNV: ARMS2, CFH, C3, C2, FB, CFHR4, CFHR5, and F13B.

43 The AMD-associated CFH(H402) variant markedly increased this inhibitory eff

44 es and RPE cells carrying disease-associated CFH genetic variants had more alternative complement pat

45 ega-3 fatty acids, obesity, and genotypes at CFH Y402H and C3 R102G.

46 fference between CFHR1 and the autoantigenic CFH epitope, suggesting a novel explanation for CFHR1 de

47 k score to determine the association between CFH risk and improvement in VA and central foveal thickn

48 Conserved sequences between CFH and CFHR3 mean that the bacterium cannot sufficientl

49 reptococcus pneumoniae protein domain, binds CFH tightly and increases accessibility of CCPs 19 and 2

50 N. cinerea fHbp binds CFH with affinity similar to that of meningococcal fHbp

51 ssociation between genetic variation in both CFH and CFHR3 and susceptibility to meningococcal diseas

52 Here, we studied mice deficient in both CFH and properdin (CFH(-/-).P(-/-)).

53 hs) mice deficient in both factors H and C3 (CFH(-/-).C3(-/-)), CFH alone (CFH(-/-)), or C3 alone (C3

54 ation (CFH(-/-)) and complete absence of C3 (CFH(-/-).C3(-/-) and C3(-/-)) negatively affect aged ret

55 in both factors H and C3 (CFH(-/-).C3(-/-)), CFH alone (CFH(-/-)), or C3 alone (C3(-/-)), and wild-ty

56 mice had plasma depleted of both C3 and C5, CFH(-/-).P(-/-) animals exhibited depletion of C3 predom

57 Family history of cancer (CFH) is important for identifying individuals to receive

58 ll patients with autoimmune aHUS lack CFHR1 (CFH-related protein-1).

59 more, sera from carriers of the hybrid CFHR1/CFH gene induced more C5b-9 deposition on endothelial ce

60 found a duplication leading to a novel CFHR1/CFH hybrid gene in a family with two affected subjects.

61 serum of heterozygous carriers of the CFHR1/CFH hybrid gene indicated that the FHR1/FH hybrid protei

62 A non-coding CFH SNP (rs6677604) and the CNP147 deletion were strongl

63 ntrolled activation of C3 driven by complete CFH deficiency, properdin influences the intraglomerular

64 We identified low rates of complete CFH documentation and low rates of referral for those wi

65 Conversely, CFH autoantibodies were not detected in 18 children unde

66 D1119G-CFH and LA-CFH both performed poorly at preventing compl

67 The aHUS-linked CCP 19 mutant D1119G-CFH had virtually no CA on (self-like) sheep erythrocyte

68 , advanced age, high-fat diet, and decreased CFH induce sub-RPE deposit formation leading to compleme

69 As previously demonstrated, CFH genotype (P = 0.005), ARMS2 (P< 0.0001), and supplem

70 ly, matching or outperforming plasma-derived CFH, whereas R53H-CFH, linked to atypical hemolytic urem

71 e interval [CI], 1.0-2.4) but not with donor CFH Y402H genotype (P = 0.626), after controlling for ag

72 We previously reported that exogenous CFH ameliorates C3 staining of the glomerular basement m

73 For CFH, mean total thickness decreased from 476 to 476 to 4

74 interval [CI], 1.2-8.8) after adjustment for CFH genotype, anti-CMV IgG positivity, age, sex, and smo

75 ecreased with the number of risk alleles for CFH (P < .001), ARMS2 (P < .001), and C3 (P = .005).

76 nce of 0 to 1, 2, or 3 to 4 risk alleles for CFH and ARMS2, respectively.

77 lesions by age and genetic risk alleles for CFH and ARMS2.

78 s (25[OH]D <12 ng/mL) and 2 risk alleles for CFH Y402H (SI for additive interaction, 1.4; 95% CI, 1.1

79 t of GA and the presence of risk alleles for CFH, ARMS 2, HTRA1, C3, or TLR3.

80 Although specific alleles for CFH, ARMS2, HTRA1, and C3 may predict the development of

81 ian FH serum levels were 299.4 microg/mL for CFH Arg175Gln and 266.3 microg/mL for CFH Ser193Leu carr

82 mL for CFH Arg175Gln and 266.3 microg/mL for CFH Ser193Leu carriers vs 302.4 and 283.0 microg/mL for

83 Genotyping was performed for CFH (rs1061170), HTRA1 (rs1200638), and C3 (rs2230199).

84 al. (2017) uncover a non-canonical role for CFH in the inhibition of mononuclear phagocyte eliminati

85 c expression was found to be significant for CFH, C3 and CFB, which are known risk genes for age-rela

86 Rare variants in the complement genes CFH, CFI, C9, and C3 have been found to be highly associ

87 single nucleotide polymorphisms in 7 genes (CFH, ARMS2/HTRA1, CFB, C2, C3, CFI, and LIPC) were genot

88 fferent expression levels for nuclear genes (CFH, EFEMP1, VEGFA and NFkB2).

89 ed to analyze SNPs within AMD-related genes (CFH, CFB, C3, FHR1-3, and ARMS2).

90 k was based on Y402H in complement factor H (CFH) and A69S in age-related maculopathy susceptibility

91 osome 1q32 contains the complement factor H (CFH) and five complement factor H-related (CFHR) genes.

92 variants in inhibitory complement factor H (CFH) are also features of both ARMD and TMA, we hypothes

93 Genetic variations in complement factor H (CFH) confer greater risk for age-related macular degener

94 Rare variants in the complement factor H (CFH) gene and their association with age-related macular

95 -coding variants in the complement factor H (CFH) gene are more strongly associated with age-related

96 netic variations in the complement Factor H (CFH) gene cluster and CFH autoantibodies in six children

97 02H risk variant in the complement factor H (CFH) gene developed neovascular AMD 2.8 (95% CI, 0.5-5.0

98 id position 402) in the complement factor H (CFH) gene have a pharmacogenetics effect on the anti-vas

99 e 1q31.1 containing the complement factor H (CFH) gene was strongly associated with serum MPO levels

100 ptibility 2 (ARMS2) and complement factor H (CFH) genotypes, and other factors, mean IMT was associat

101 Complement factor H (CFH) is a major susceptibility gene for age-related macu

102 Complement factor H (CFH) is a negative regulator of the alternative pathway

103 Complement factor H (CFH) is an important regulatory protein in the alternati

104 tutions in the gene for complement factor H (CFH) is strongly associated with risk of AMD.

105 additional SNPs at the complement factor H (CFH) locus.

106 ficiently suppressed by complement factor H (CFH) on self-surfaces but not on foreign surfaces.

107 of risk alleles of the complement factor H (CFH) or age-related maculopathy susceptibility 2 (ARMS2)

108 Complement factor H (CFH) regulates complement activation in host tissues thr

109 individuals with 1 or 2 complement factor H (CFH) risk alleles derived maximum benefit from antioxida

110 usceptibility genotypes Complement Factor H (CFH) RS1061170 and Age Related Maculopathy Susceptibilit

111 Two loci in complement factor H (CFH) were included in a risk score to determine the asso

112 mmunoglobulin (Ig)G and complement factor H (CFH) Y402H genotype.

113 These include complement factor H (CFH), a negative regulator of C3 activation.

114 enetic loci in 7 genes [complement factor H (CFH), age-related maculopathy susceptibility 2/high-temp

115 or rare variants in the complement factor H (CFH), complement factor I (CFI), complement C9 (C9), and

116 l complement inhibitor, complement factor H (CFH), for ligand binding.

117 the CFH gene, encoding complement factor H (CFH), show strong association with age-related macular d

118 ve complement regulator complement factor H (CFH), thereby inhibiting the alternative pathway of comp

119 host-immune regulator, complement factor H (CFH), to the bacterial surface.

120 of hemopexin (HPX) and complement factor H (CFH), two liver-secreted glycoproteins, in healthy indiv

121 status, presence of the complement factor H (CFH)-rs1061170 and age-related maculopathy susceptibilit

122 autoantibodies against complement factor H (CFH).

123 ptibility 2 (ARMS2) and complement factor H (CFH).

124 nal genes interact with Complement Factor H (CFH).

125 in the coding region of complement factor H (CFH).

126 e discomfort, and changes in feeding habits (CFH).

127 jury, plasma iron, and cell-free hemoglobin (CFH) levels depending on the age of stored blood (all, P

128 resh blood, which results in less hemolysis, CFH, and iron release, is less toxic than transfusion of

129 not associated with modification of hepatic CFH production.

130 Human CFH protein inhibited cleavage of mouse complement compo

131 To address this, we expressed human CFH mutants in Pichia pastoris We found that recombinant

132 ial chromosomes expressing full-length human CFH variants and crossed these to Cfh knockout (Cfh(-/-)

133 In addition, expression of human CFH also completely protected the mice from developing k

134 These same human CFH variants have also been associated with dense deposi

135 lium/choroid/sclera, establishing that human CFH regulates activation of the mouse alternative pathwa

136 e created transgenic mouse lines using human CFH bacterial artificial chromosomes expressing full-len

137 These humanized CFH mice present a valuable model for study of the molec

138 nd also enhanced hemolysis protection by I62-CFH and LA-CFH.

139 versely, PspCN boosted the CA, on ES, of I62-CFH, R53H-CFH, and LA-CFH and also enhanced hemolysis pr

140 ichia pastoris We found that recombinant I62-CFH (protective against age-related macular degeneration

141 ry rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes,

142 Patients carrying 4 risk alleles in CFH and ARMS2 developed neovascular AMD 12.2 (95% CI, 6.

143 D may be protective for cCSC, and alleles in CFH that are protective for AMD confer risk for cCSC.

144 s the appearance of mesangial C3 deposits in CFH(-/-) mice; here, we show that these effects require

145 , or a higher degree of core fucosylation in CFH compared to HPX, but we did not identify changes dif

146 e C57BL/6, but these changes were greater in CFH(-/-).C3(-/-) mice.

147 t that genotyping for the risk haplotypes in CFH and MCP may help predict the risk of developing aHUS

148 wo families harbored novel rare mutations in CFH (R53C and D90G).

149 Only 8%-10% of patients with mutations in CFH, C3, or CFB had combined mutations, whereas approxim

150 [OR] = 0.14, P = 4.3 x 10-10) and N1050Y in CFH (OR = 0.76, P = 6.2 x 10-12).

151 y homozygous for rs10490924 and rs1061170 in CFH (OR, 62.3; 95% confidence interval, 16-242), with P

152 0924 and rs4146894 in ARMS2 and rs1061170 in CFH.

153 presence of repeated homologous sequences in CFH and CFHR1-R5 genes.

154 ified four rare loss-of-function variants in CFH associated with AMD.

155 Rare variants in CFH, CFI, C9, and C3 contributed to an increased risk of

156 in known AMD risk-associated genes including CFH (rs800292, rs3766404, rs1061170, rs2274700 and rs393

157 these same clinical parameters and increased CFH levels.

158 Five patients carried known CFH/CFHR1 genes, but we found a duplication leading to a

159 the CA, on ES, of I62-CFH, R53H-CFH, and LA-CFH and also enhanced hemolysis protection by I62-CFH an

160 D1119G-CFH and LA-CFH both performed poorly at preventing complement-media

161 anced hemolysis protection by I62-CFH and LA-CFH.

162 S-linked CCP 20 mutant S1191L/V1197A-CFH (LA-CFH) had dramatically reduced CA on ES but was less comp

163 strated that VEGF inhibition decreases local CFH and other complement regulators in the eye and kidne

164 The SNPs at 3 other AMD loci (CFH, TNFRSF10A, ADAMTS9) showed a trend toward associati

165 CFH Y402H genotype (P < .001) and for a low CFH risk score (P = .019).

166 l thickness overall, and subjects with a low CFH risk score improved more than the high-risk group.

167 reatment was significantly higher in the low CFH risk score group (P = .033).

168 its recognition of polyanions, which mediate CFH binding to host cell surfaces and extracellular matr

169 CFH-deficient mice (CFH(-/-)) develop uncontrolled C3 activation and spontan

170 provement in VA was observed for the nonrisk CFH Y402H genotype (P < .001) and for a low CFH risk sco

171 h C3b degradation in carriers of CFI but not CFH variants, suggesting that CFH variants affect functi

172 We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3-kb dele

173 ing proteins, and C3b degradation ability of CFH and CFI variant carriers.

174 s reviewed documented presence or absence of CFH in first-degree relatives, and 61.5% of medical reco

175 al records documented presence or absence of CFH in second-degree relatives, with significantly highe

176 smoking and presence of >/=1 risk allele of CFH-rs1061170 or ARMS2-rs10490924 were associated with l

177 d according to the number of risk alleles of CFH (rs1061170) or ARMS2 (rs10490924) as low (no or 1 ri

178 I, 1.3-3.2), and presence of risk alleles of CFH-rs1061170 (OR, 1.8; 95% CI, 1.3-2.4) or ARMS2-rs1049

179 sex and the presence of both risk alleles of CFH-rs1061170 or ARMS2-rs10490924 were independently ass

180 netic screening of aHUS includes analysis of CFH and CFHR rearrangements, particularly before a kidne

181 une activation by acting as an antagonist of CFH.

182 teins function as competitive antagonists of CFH to modulate complement activation in vivo and explai

183 the functional basis for the association of CFH and MPO variants with circulating MPO levels require

184 Our study confirms the association of CFH with susceptibility to MD and strengthens the import

185 kes the major contribution to the binding of CFH in the human kidney.

186 MP persistence arose secondary to binding of CFH to CD11b, which obstructed the homeostatic eliminati

187 Carriers of CFH (Arg175Gln and Ser193Leu) and CFI (Gly119Arg and Leu

188 ement and (2) analysis of the combination of CFH rs412852 and rs3766405 with ARMS2 c.372_815del443ins

189 models of AMD to examine the contribution of CFH to disease etiology.

190 oantigenic loop in the C-terminal domains of CFH and CFHR1, explaining the variation in binding of au

191 ntrary to expectation, electroretinograms of CFH(-/-).C3(-/-) mice displayed more severely reduced re

192 To mechanistically study the function of CFH in the pathogenesis of these diseases, we created tr

193 However, which of the several functions of CFH drives this self-surface selectivity remains unknown

194 rstanding of the complicated interactions of CFH in AMD-like pathology provides an improved foundatio

195 therefore depends on the relative levels of CFH and CFHR3 in serum.

196 Strikingly, decreased levels of CFH led to increased sub-retinal pigmented epithelium (s

197 s, which express relatively higher levels of CFH, demonstrated functional and structural protection o

198 kidney abnormalities associated with loss of CFH.

199 In conclusion, pharmacogenetics of CFH Y402H polymorphism may play a role in response to an

200 The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in bl

201 sit height, we interrogated the potential of CFH as a previously unidentified regulator of Bruch's me

202 Older age and the presence of CFH and ARMS2 risk alleles are 2 main risk factors assoc

203 The concomitant presence of CFH and MCP risk haplotypes significantly increased dise

204 nd that it is responsible for recruitment of CFH by the bacterium.

205 Our data show that the CCP6-8 region of CFH binds more strongly to heparin (a highly sulfated fo

206 ange of structures, for which two regions of CFH (CCP6-8 and CCP19-20) have been implicated in HS bin

207 We examined the triangular relationships of CFH/CFHR3/CFHR1 genotype, plasma CFH or CFHR1 concentrat

208 Here, the role of CFH in the development of AMD pathology in vivo was inte

209 The surface selectivity of CFH, a soluble protein containing 20 complement-control

210 core fucosylation at N882 and N911 sites of CFH, or a higher degree of core fucosylation in CFH comp

211 n fact, we demonstrate that gene variants of CFH and CFB, as well as demographic risk factors, confer

212 Four genotype groups based on CFH and ARMS2 risk allele number were defined.

213 tographs for AMD and genotype information on CFH and ARMS2.

214 The autoantigenic loop on CFH seems to be generally flexible, as its conformation

215 Both C3 inhibition and/or CFH augmentation are potential therapeutic strategies in

216 ionships of CFH/CFHR3/CFHR1 genotype, plasma CFH or CFHR1 concentrations and AMD susceptibility in co

217 low plasma CFHR1 concentrations, high plasma CFH or both.

218 ut genome-wide association studies of plasma CFH and CFHR1 concentrations.

219 H-raising rs6677604 allele and raised plasma CFH concentration were each associated with AMD protecti

220 the association of CNP147 with raised plasma CFH concentration.

221 The plasma CFH-raising rs6677604 allele and raised plasma CFH conce

222 related both with each other and with plasma CFH and CFHR1 concentrations.

223 e of progression with genetic polymorphisms (CFH-402His [P = .04] and CFH-62Ile [P = .04]) and demogr

224 show that hRPE cells of the AMD-predisposing CFH haplotype (HH402/VV62) are attacked by complement fo

225 ed mice deficient in both CFH and properdin (CFH(-/-).P(-/-)).

226 n contrast, hRPE cells of the AMD-protective CFH haplotype (YY402/II62) showed no complement activati

227 spCN boosted the CA, on ES, of I62-CFH, R53H-CFH, and LA-CFH and also enhanced hemolysis protection b

228 tperforming plasma-derived CFH, whereas R53H-CFH, linked to atypical hemolytic uremic syndrome (aHUS)

229 Identification of rare CFH variant carriers may be important for upcoming compl

230 Recipient CFH Y402H genotype was obtained from DNA extracted from

231 patients, AMD was associated with recipient CFH Y402H genotype (P = 0.036; odds ratio [OR], 1.6; 95%

232 omplement attack, whereas cells with reduced CFH synthesis because of the Y402H and I62V substitution

233 f 212 practices completed measures regarding CFH and GC/GT practices for 10,466 patients; 77.4% of al

234 rtase (C3 and CFB) and complement regulator (CFH, CFI, CFHR5, and CD46) genes (P<0.05).

235 d infection, washed RBC are prone to release CFH and result in worsened clinical outcomes.

236 healthy lifestyle score (0-2) and high-risk CFH genotype (CC), relative to those who had low genetic

237 Eyes homozygous for the high-risk CFH genotype had thinner choroids than low-risk homozygo

238 h low healthy lifestyle scores and high-risk CFH genotype were strengthened (odds ratio, 4.6; 95% CI,

239 improvement in VA was observed for low-risk CFH genotypes and subjects with a low risk score.

240 ere performed on eyes with high- or low-risk CFH genotypes.

241 ch patient was genotyped for SNPs rs1061170 (CFH), rs10490924 (ARMS2), rs11200638 (HTRA1), and rs2230

242 1 and were genotyped for the SNPs rs1061170 (CFH), rs10490924 (ARMS2),rs2230199 (C3), rs10468017 (LIP

243 involved 879 participants for whom the same CFH and ARMS2 single nucleotide polymorphisms were measu

244 5% CI 1.0-4.5) after adjusting for age, sex, CFH-rs1061170 and ARMS2-rs10490924 polymorphisms.

245 lf-surfaces may reverse deficiencies of some CFH variants.

246 In this study, we demonstrate that CFH has tissue-specific binding properties mediated thro

247 using human Bruch's membrane explants, that CFH removes endogenous human lipoproteins in aged donors

248 It is postulated that CFH Y402H genotype may help predict which patients respo

249 of CFI but not CFH variants, suggesting that CFH variants affect functional activity of FH rather tha

250 The CFH Y402H polymorphism (rs1061170) was genotyped in 41 s

251 The CFH-H3 haplotype was also found to be protective (P=0.01

252 Furthermore, the genotypes at the CFH and ARMS2 loci did not statistically significantly a

253 /= 5 x 10(-8)) in 20 variants located at the CFH gene.

254 and poorer visual acuity and of SNPs at the CFH locus with drusen area may provide new insights in p

255 Two SNPs at the CFH locus, rs10922109 and rs570618, were associated with

256 ingle nucleotide polymorphisms (SNPs) at the CFH, FZD4, and HTRA1/ARMS2 loci were tested for replicat

257 recurrent gene conversion events between the CFH and CFHR1 genes.

258 we investigated the relationship between the CFH haplotype of human RPE (hRPE) cells, exposure to OS

259 here was a trend for association between the CFH Y402H T allele ("low risk" for AMD, n = 6) and impro

260 SNP rs6503905; P = 2.94 x 10(-12)), but the CFH locus did not exhibit evidence of association with p

261 Individuals carrying the CFH risk -allele had a mean thickening (microns +/- SEM)

262 ent advanced AMD among subjects carrying the CFH Y402H nonrisk (T) allele (P-trend = 0.0004, P-intera

263 um lipids, systemic and dietary factors, the CFH single nucleotide polymorphism (SNP) rs1061170 and A

264 vitamin D status and 2 risk alleles for the CFH and CFI genotypes, suggesting a synergistic effect b

265 For the CFH Y402H polymorphism, anti-VEGF treatment was much les

266 ing, and AMD genetic susceptibility from the CFH or ARMS2 genes.

267 ed rescue therapy before day 29; all had the CFH Y402H CC "high-risk" genotype for AMD.

268 iously described p.Arg1210Cys encoded in the CFH gene (case frequency (fcase) = 0.51%; control freque

269 ow that the common Y402H polymorphism in the CFH gene, associated with an increased risk of AMD, redu

270 ents with AMD carrying a rare variant in the CFH gene.

271 re more likely to have a rare variant in the CFH gene.

272 with AMD with a rare genetic variant in the CFH gene.

273 Association of rare variants in the CFH, CFI, C9, and C3 genes with AMD, serum levels of cor

274 Variants of the CFH gene, encoding complement factor H (CFH), show stron

275 Further analysis of the CFH locus identified 2 SNPs that significantly conferred

276 e presence of at least 3 risk alleles of the CFH rs1061170 or ARMS2 rs10490924 genes (OR, 2.1; 95% CI

277 patients with CC, CT, or TT variants of the CFH Y402H polymorphism (P < .01).

278 Carriage of the CFH Y402H polymorphism in both alleles is associated wit

279 sociated with the increased frequency of the CFH Y402H sequence variation.

280 Due to the CFH-dependent increase in sub-RPE deposit height, we int

281 impairing complement regulation, whereas the CFH-411T polymorphism lacked functional consequences.

282 much less effective in AMD patients with the CFH CC genotype (CC versus TT: odds ratio (OR) = 55, 95%

283 rrent smokers at baseline, subjects with the CFH or ARMS2 risk genotypes, and pseudophakic eyes.

284 ide polymorphisms (SNPs) associated with the CFH, ARMS2, C3, LIPC, CFB, and C2 genes are associated w

285 ally, our data show that deposits are due to CFH competition for lipoprotein binding sites in Bruch's

286 l complement complex), and regulators (total CFH, C1 inhibitor).

287 Patients with one or two CFH risk alleles and no ARMS2 risk alleles derived maxim

288 ients carried the previously uncharacterized CFH-411T variant.

289 The aHUS-linked CCP 20 mutant S1191L/V1197A-CFH (LA-CFH) had dramatically reduced CA on ES but was l

290 st age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming p

291 Missense variant CFH 1:196646753 (C192F) segregated perfectly within a fa

292 rusen, carried essential splice site variant CFH 1:196648924 (IVS6+1G>A) or missense variant rs139360

293 etention of Sb (89-98%) in soil amended with CFH-12 (2%) mixed with limestone (1%) compared to unamen

294 o the pathophysiology of AMD associated with CFH variants.

295 The ORs for associations with CFH were similar for stage 3 early AMD and late AMD.

296 e interactions, since genes interacting with CFH are retinal genes, and GO term enrichment also verif

297 and pack-years smoked and interactions with CFH and ARMS2 with the incidence and progression of AMD

298 Among patients with CFH or CFI mutations, the presence of mutations in other

299 n between the presence of GA and SNPs within CFH, ARMS2, and FHR1-3.

300 compared with outcomes for patients without CFH risk alleles.