ライフサイエンスコーパス: CFH

1 CFH and ARMS2 risk alleles do not modify the response to

2 CFH genotype strongly influenced these relationships.

3 CFH is associated with mean arterial pressure, SVRI, and

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

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

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

7 CFH/CFHR rearrangements were associated with poor clinic

8 are (minor allele frequency [MAF], <=0.0001) CFH variants were identified as the cause of disease in

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

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

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

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

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

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

15 100 eyes of 51 patients with AMD carrying a CFH variant (mean [SD] age, 66.7 [12.1] years; 64.7% fem

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

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

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

19 d no protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants.

20 cant protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants.

21 l laminar deposits was detected only in aged CFH-H/H mice following the HFC diet.

22 These changes were not observed in aged CFH-Y/0 mice or in younger (36- to 40-week-old) CFH mice

23 Biochemical analyses of aged CFH mice after HFC diet revealed genotype-dependent chan

24 are elevated in the RPE/choroid of the aged CFH-H/H mice compared with age-matched control CFH-Y/0 f

25 While studying aging CFH-deficient (fH-/-) mice, we observed spontaneous hepa

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

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

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

29 l level, with C3 risk alleles (P = 0.04) and CFH risk alleles (P = 0.048 for homozygotes).

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

31 ations, particularly omega-3 fatty acids and CFH.

32 with a larger number of high-risk ARMS2 and CFH alleles showed higher RIT, in both healthy and AMD g

33 The variants of ARMS2 and CFH are informative for both physicians and patients to

34 herein older adults with high-risk ARMS2 and CFH genotypes are more likely to demonstrate delayed RMD

35 When adjusting for age, sex, ARMS2 and CFH risk alleles, and examination phase, the ox-LDL at t

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

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

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

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

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

41 assing the complement factor H (CFH, FH) and CFH related genes (CFHR1-5) are major determinants of AM

42 patients with severe malaria, hematocrit and CFH but not asymmetric dimethylarginine were significant

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

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

45 24, HTRA1 SNPs rs11200638 and rs3793917, and CFH SNPs rs393955, rs1061170, and rs2274700 were associa

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

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

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

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

50 ctive allele of the strongest AMD-associated CFH locus variant rs10922109 has the highest association

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

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

53 FH Y402 (CFH-Y/0) or the AMD-risk associated CFH H402 (CFH-H/H) variant on a Cfh (-/-) background wer

54 effect of the principal AMD-risk-associated CFH variant (Y402H) on the development and progression o

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

56 fferences were observed according to SNPs at CFH, ARMS2, or C3.

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

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

59 Associations between CFH and ARMS2 polymorphisms and RMDA were adjusted for a

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

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

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

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

64 same direction in individuals with PE (C1R , CFH , and C5 ).

65 ltiple comparisons (VTN , C1RL , C8B , C8A , CFH , and C5 ).

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

67 D-(related) genes (ARMS2, C3, C9, CD46, CFB, CFH, CFI, HTRA1, TIMP3, and SLC16A8), and 3 genes that c

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

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

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

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

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

73 H-H/H mice compared with age-matched control CFH-Y/0 fed a HFC diet.

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

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

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

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

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

79 fied as the cause of disease in each family: CFH c.1243del, p.(Ala415ProfsTer39) het; c.350+1G->T het

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

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

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

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

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

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

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

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

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

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

90 Eight common and rare variants in genes CFH, C3, ARMS2, COL8A1, and HSPH1/B3GALTL conferred a si

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

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

93 te injury (NEP25/LMB2) at day 12, glomerular CFH and C3a receptor (C3aR) expression was decreased as

94 idoma/LMB2) resulted in increased glomerular CFH expression (1.7-fold) accompanied by decreased suben

95 odocyte injury 5 days after LMB2, glomerular CFH and C3aR expression was increased as compared with N

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

97 s were genotyped in the complement factor H (CFH) and ARMS2 genes using a Taqman assay.

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

99 ement factors including complement factor H (CFH) and to promote the removal of both subendothelial a

100 Mice deficient in complement factor H (CFH) are a classic C3G model, with kidney disease that r

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

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

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

104 02H risk variant in the complement factor H (CFH) gene developed neovascular AMD 2.8 (95% CI, 0.5-5.0

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

106 uencing analysis of the complement factor H (CFH) gene.

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

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

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

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

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

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

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

114 ssible interaction with Complement Factor H (CFH) Y402H and Complement factor 3 (C3) rs2230199 (R102G

115 Molecular defects in complement factor H (CFH), a critical regulatory protein of the complement al

116 Genetic variants within complement factor H (CFH), a major alternative complement pathway regulator,

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

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

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

120 tive genetic alleles of complement factor H (CFH), the Mediterranean diet had further beneficial effe

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

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

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

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

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

126 autoantibodies against complement factor H (CFH).

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

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

129 r degeneration (AMD) is complement factor H (CFH); however, its impact on AMD pathobiology remains un

130 1q31.3 encompassing the complement factor H (CFH, FH) and CFH related genes (CFHR1-5) are major deter

131 FH-Y/0) or the AMD-risk associated CFH H402 (CFH-H/H) variant on a Cfh (-/-) background were aged to

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

133 due to the presence of cell-free hemoglobin (CFH) increases vascular tone in severe malaria.

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

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

136 Human CFH protein inhibited cleavage of mouse complement compo

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

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

139 qual amounts of the full-length normal human CFH Y402 (CFH-Y/0) or the AMD-risk associated CFH H402 (

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

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

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

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

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

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

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

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

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

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

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

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

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

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

154 single-nucleotide polymorphisms rs1061170 in CFH and rs10490924 in ARMS2.

155 lthy individuals, we identified rs1061170 in CFH and the deletion of CFHR3 and CFHR1 as dominant gene

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

157 9S variant in ARMS2 and the Y402H variant in CFH (adjusted P = 0.0001 and P = 0.0023, respectively).

158 ed P = 0.0011), whereas the Y402H variant in CFH was not (adjusted P = 0.2175).

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

160 Previously reported EOMD-causing variants in CFH were reviewed.

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

162 these same clinical parameters and increased CFH levels.

163 er Genome Atlas also revealed that increased CFH mRNA expression is associated with improved survival

164 sublytic levels of injury, podocyte induced CFH expression locally and clearance of subendothelial I

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

166 polymorphic regions of CFB rs4151667 (L9H), CFH Y402H and C3 rs2230199 (R102G).

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

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

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

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

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

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

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

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

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

176 nsisting of fetal CD46 variants and maternal CFH/C3 variants were highly prevalent in PE patients com

177 HR1 as dominant genetic variants that modify CFH/FHL-1 binding to MDA.

178 influences retinal development using a mouse CFH knockout (Cfh(-/-)) with an aged retinal degenerativ

179 re mutations in factor H (FH; official name, CFH) are associated with age-related macular degeneratio

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

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

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

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

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

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

186 2.18:95%CI: 1.47-3.24) and C(risk) allele of CFH rs1329428 (P = 2.0 x 10(-3); hazard ratio: 1.74:95%C

187 RMS2 A69S (P = 1.0 x 10(-5)) and C allele of CFH rs1329428 (P = 3.0 x 10(-3)) after adjusting for the

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

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

190 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

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

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

193 une activation by acting as an antagonist of CFH.

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

195 his is explained with the reduced binding of CFH or its splice variant factor H-like protein 1 (FHL-1

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

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

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

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

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

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

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

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

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

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

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

207 kidney abnormalities associated with loss of CFH.

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

209 rough the nitric oxide scavenging potency of CFH, increasing basal vascular tone and impairing tissue

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

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

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

213 Little is known regarding the role of CFH in controlling complement activation within the live

214 Considering the critical role of CFH in inhibiting alternative pathway activation on MDA-

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

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

217 Our study supports sequencing of CFH, CFI, and C3 genes because they harbor rare high-ris

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

219 9S variant of ARMS2 and the Y402H variant of CFH were associated with higher RIT (adjusted P = 0.0182

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

221 orrelated with the AMD-like phenotype in old CFH-H/H mice.

222 -Y/0 mice or in younger (36- to 40-week-old) CFH mice of both genotypes fed either diet.

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

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

225 th reduced placental CD46 expression and one CFH variant was associated with increased maternal AP50

226 Plasma CFH levels correlated positively with the core-periphera

227 and hematocrit levels were lower and plasma CFH and asymmetric dimethylarginine levels were higher i

228 c variants that modify the ability of plasma CFH to bind MDA in 1,830 individuals and characterized t

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

230 Five single nucleotide polymorphisms (CFH [rs10611670], C3 [rs2230199], CFI [rs10033900], C2/C

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

232 A-rich areas on necrotic cells and prevented CFH from mediating its cofactor activity on MDA-modified

233 in-induced sublytic podocyte injury promoted CFH expression in immortalized mouse podocytes in vitro.

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

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

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

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

238 synapse formation, and replenishing reduced CFH gene expression rescues KCNH2-3.1-induced impaired s

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

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

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

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

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

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

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

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

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

248 f 6 genes including ARMS2 A69S (rs10490924), CFH (I62V:rs800292 and rs1329428), C2-CFB-SKIV2L(rs42960

249 polymorphisms-rs10490924 (ARMS2), rs1061170 (CFH), rs2230199 (C3), rs116503776 and rs114254831 (C2/CF

250 1 and were genotyped for the SNPs rs1061170 (CFH), rs10490924 (ARMS2),rs2230199 (C3), rs10468017 (LIP

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

252 vity associated with reductions of SERPING1, CFH, and CD74 in the KCNH2-3.1 overexpression transgenic

253 5% CI 1.0-4.5) after adjusting for age, sex, CFH-rs1061170 and ARMS2-rs10490924 polymorphisms.

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

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

256 These results indicate that CFH is critical for controlling complement activation in

257 Immunostaining revealed that CFH was dominantly expressed in podocytes of NEP25/hybri

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

259 The CFH risk allele was not associated with AMD progression.

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

261 /= 5 x 10(-8)) in 20 variants located at the CFH gene.

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

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

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

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

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

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

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

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

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

271 her proportion of pathogenic variants in the CFH (odds ratio [OR] = 2.88; P = 0.006), CFI (OR = 4.45;

272 Identification of rare variants in the CFH and C9 genes in our study validated previous reports

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

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

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

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

277 Rare coding variants were identified in the CFH, PUS7, RXFP2, PHF12 and TACC2 genes in three or more

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

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

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

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

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

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

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

285 he importance of genetic variants within the CFH/CFHR3/CFHR1 locus in the recognition of altered-self

286 est affinity toward MDA-epitopes compared to CFH and FHR3.

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

288 ubendothelial area associated with unaltered CFH expression.

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

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

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

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

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

294 o the pathophysiology of AMD associated with CFH variants.

295 loss worldwide, are variants associated with CFH-CFHR5 on chromosome 1 (Chr1) and ARMS2/HTRA1 on chro

296 demonstrated that FHR1 and FHR3 compete with CFH for binding to MDA-epitopes and that FHR1 displays t

297 aMedi and its fish component interacted with CFH rs10922109 for late AMD (P = 0.01 and P = 0.0005, re

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

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

300 ts of the full-length normal human CFH Y402 (CFH-Y/0) or the AMD-risk associated CFH H402 (CFH-H/H) v