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World Journal of Clinical Cases 2023年第13期11卷 2934-2944页

作者： Qiu-Yu Li Jian-Min Lv Xiao-Ling Liu hai-Yun Li Feng Yu Department of Respiratory and Critical Care Medicine Peking University Third HospitalBeijing 100191China School of Basic Medical Sciences Xi'an Jiaotong UniversityXi'an 710061Shaanxi ProvinceChina School of Life Sciences Lanzhou UniversityLanzhou 730000Gansu ProvinceChina Department of Medicine Peking University First HospitalBeijing 100034China

BACKGROUND complement overactivation is a major driver of lupus nephritis(LN).Impaired interactions of C-reactive protein(CRP)with complement factor h(CFh)have been shown as a pathogenic mechanism that contributes to the overactivation of complement in LN.however,genetic variations of neither CRP nor CFh show consistent influences on the risk of LN.AIM To examine whether genetic variations of CRP and CFh in combination can improve the risk stratification in Chinese population.METhODS We genotyped six CRP single nucleotide polymorphisms(SNPs)(rs1205,rs3093062,rs2794521,rs1800947,rs3093077,and rs1130864)and three CFh SNPs(rs482934,rs1061170,and rs1061147)in 270 LN patients and 303 healthy subjects.RESULTS No linkage was found among CRP and CFh SNPs,indicating lack of genetic interactions between the two genes.Moreover,CRP and CFh SNPs,neither individually nor in combination,are associated with the risk or clinical manifestations of LN.Given the unambiguous pathogenic roles of the two genes.CONCLUSION These findings suggest that the biological effects of most genetic variations of CRP and CFh on their expressions or activities are not sufficient to influence the disease course of LN.

关键词： Systemic lupus erythematosus Lupus nephritis C-reactive protein complement factor h Single nucleotide polymorphism

Association of CFh and MAP1LC3B gene polymorphisms with age-related macular degeneration in a high-altitude population

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International Journal of Ophthalmology(English edition) 2022年第11期15卷 1752-1756页

作者： Rui-Juan Guan Xin Yan Ling Li Ze-Feng Kang Xiao-Ying Zhang huan-Juan Yang Soochow University Suzhou 215000Jiangsu ProvinceChina Department of Ophthalmology Qinghai Provincial People's HospitalXining 810007Qinghai ProvinceChina Eye hospital China Academy of Chinese Medical SciencesBeijing 100043China

AIM: To evaluate the association of complement factor h(CFh) and microtubule-associated protein 1 light chain 3 beta(MAP1LC3B) gene polymorphisms with the risk of age-related macular degeneration(AMD) in a high-altitude population. METhODS: The study group consisted of 172 participants with symptoms of AMD who were examined and diagnosed between January 2019 and June 2020. The control group was composed of 120 healthy individuals. Each participant was required to provide two milliliters of peripheral blood for DNA extraction. Two single nucleotide polymorphisms(SNPs) of CFh(rs1061170 and rs800292) and two SNPs of MAP1LC3B(rs8044820 and rs9903) were genotyped. The genotypes and allele frequencies of the SNPs in the study and control groups were further compared using Chi-square and Fisher’s exact tests. RESULTS: In a high-altitude population, the nominally significant differences of rs800292 and rs9903’s genotype AG frequencies were observed in the AMD group(P=0.034 and 0.004, respectively). The frequencies of allele G of rs800292 and allele A of rs9903 were also significantly dif ferent in the AMD group compared to the control [(P=0.034, OR=0.70, 95%CI: 0.50-0.98) and(P=0.004, OR=1.60, 95%CI: 1.15-2.22), respectively]. No significant differences in the genotype distributions(P=0.16 and 0.40, respectively) and allele frequencies(P>0.05) of rs1061170 and rs8044820 were observed in the AMD group.CONCLUSION: Genotype AG of rs800292 may be a protective factor for AMD. Conversely, rs9903 seems to be a risk factor for AMD. Therefore, allele G of rs800292 may be a protective factor, and allele A of rs9903, a risk factor for AMD in Qinghai high-altitude population.

关键词： age-related macular degeneration complement factor h microtubule-associated protein 1 light chain 3 beta single nucleotide polymorphisms pathogenesis

Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population

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Chinese Medical Journal 2008年第24期121卷 2525-2533页

作者： ChU Jie ZhOU Cheng-chao LU Ning ZhANG Xue DONG Fang-tian Department of Ophthalmology Peking Union Medical College Hospital Chinese Academy of Medical Sciences & Peking Union Medical College Beijing 100730 China Institute of Noncommunicable Disease Shandong Center for Disease Control and Prevention Jinan Shandong 250014 China School of Public health Shandong University Jinan Shandong 250012 China Eye Center Beijing Tongren Hospital Beijing 100005 China Department of Medical Genetics Institute of Basic Medical Sciences Chinese Academy of Medical Sciences Beijing 100730 China

Background The present study was undertaken to replicate the associations of representative polymorphisms in three genes （complement factor h （CFh）, complement factor B （BF） and htrA serine peptidase 1 （hTRA1）） with exudative age-related macular degeneration （AMD） in a han Chinese population, and to test if the modifiable environmental factors affect AMD susceptibility associated with different type of genotype in these genes. Methods An age, gender and ethnicity matched case-control study was conducted to genotype the representative single neucleotide polymorphisms （SNPs） loci including rs1061170 and rs1410996 in CFh, rs641153 and rs4151667 in BF and rs11200638 in hTRA1 gene in 144 exudative AMD patients and 126 normal controls using PCR-RFLP and direct resequencing. The demographic characteristics and behavioral risk factors were also recorded. Allelic and genotypic associations for individual SNP and joint associations with two loci were performed. The gene-gene and gene-environment interactions were analyzed using multivariate non-conditional Logistic regression analysis. Results The C risk allele frequencies for CFh Y402h （rs1061170） in cases and controls were 12.5% and 5.4% respectively, which were much lower than those in Caucasians （P 〈0.001）. Compared with TT homozygous genotype, the CT heterozygous genotype was positively associated with AMD with odds ratio （OR） of 3.23 （1.36-5.07）. however, the population attributable risk （PAR） of C allele was only 3.3% （1.4%-4.3%）. rs1410996 was also associated with AMD independent of Y402h. The ORs of exudative AMD for individuals carrying one copy risk allele and two copy risk alleles were 2.57 （1.21-5.45） and 4.76 （2.15-10.55） respectively, with correspondent PARs of 28.3% （2.0%-40.5%） and 38.2% （21.8%-45.4%）. rs11200636 in hTRA1 was another susceptible locus for AMD and the risk homozygotes were significantly susceptible for exudutive AMD （OR=3.98, 1.88-8.43） with PAR of 38.9% （24.3%-45.8%）. Education status and cigarette smoking were also related to exudative AM

关键词： exudative age-related macular degeneration complement factor h complement factor B htrA serine peptidase 1 smoking gene-environment interaction

Influence of CFh,hTRA1 and ARMS2 polymorphisms in the response to intravitreal ranibizumab treatment for wet age-related macular degeneration in a Spanish population

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International Journal of Ophthalmology(English edition) 2016年第9期9卷 1304-1309页

作者： Fernando Cruz-Gonzalez Lucia Cabrillo-Estevez Vanesa Rivero-Gutierrez Ana Sanchez-Jara Lourdes De Juan-Marcos Rogelio Gonzalez-Sarmiento Department of Ophthalmology Hospital Universitario Salamanca

AIM：To determine whether gene polymorphisms of the major genetic risk loci for age-related macular degeneration（AMD）：ARMS2（rs10490923）,the complement factor h（CFh）（rs1410996） and hTRA1（rs11200638） influence the response to a treatment regimen with ranibizumab for exudative AMD.METhODS：This study included 100 patients（100 eyes）with exudative AMD.Patients underwent a treatment with ranibizumab injections monthly during three months.Reinjections were made when the best corrected visual acuity（BCVA） decrease five letters（ETDRS） or central subfield retinal thickness gained 100 pm in optical coherence tomography image.Genotypes（rs10490923,rs1410996 and rs11200638） were analyzed using TaqMan probes or polymerase chain reaction-restricted fragment length polymorphisms analysis.RESULTS：There were no statistically significant differences in allelic distribution of CFh（rs1410996）,ARMS2（rs10490923） and hTRA1（rs11200638）polymorphisms regarding to response to ranibizumab treatment.CONCLUSION：Ranibizumab treatment response is not related to CFh（rs1410996）,ARMS2（rs10490923） and hTRA1（rs11200638） poymorphisms.

关键词： age-related macular degeneration polymorphisms ARMS2 hTRA1 complement factor h ranibizumab

Novel Mechanistic Interplay between Products of Oxidative Stress and Components of the complement System in AMD Pathogenesis

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Open Journal of Ophthalmology 2016年第1期6卷 43-50页

作者： hongjun Du Xu Xiao Travis Stiles Christopher Douglas Daisy ho Peter X. Shaw Department of Ophthalmology Xijing Hospital Xi’an China Department of Ophthalmology and Shiley Eye Institute University of California San Diego San Diego USA Sichuan Provincial People’s hospital Chengdu China

Age-related macular degeneration (AMD) is a leading cause of vision loss affecting tens of millions of elderly worldwide. Early AMD includes soft drusen and pigmentary changes in the retinal pigment epithelium (RPE). As people age, such soft confluent drusen can progress into two forms of advanced AMD, geographic atrophy (GA, or dry AMD) or choroidal neovascularization (CNV, or wet AMD) and result in the loss of central vision. The exact mechanism for developing early AMD and progressing to advanced stage of disease is still largely unknown. however, significant evidence exists demonstrating a complex interplay of genetic and environmental factors as the cause of AMD progression. Together, complement factor h (CFh) and hTRA1/ARMS polymorphisms contribute to more than 50% of the genetic risk for AMD. Environmentally, oxidative stress from activities such as smoking has also demonstrated a powerful contribution to AMD progression. To extend our previous finding that genetic polymorphisms in CFh results in OxPLs and the risk-form of CFh (CFh Y402h) has reduced affinity for oxidized phospholipids, and subsequent diminished capacity which subsequently diminishes the capability to attenuate the inflammatory effects of these molecules, we compared the binding properties of CFh and CFh related protein 1 (CFhR1), which is also associated with disease risk, to OxPLs and their effects on modulating inflammation and lipids uptake. As both CFh-402h and CFhR1 are associated with increased risk to AMD, we hypothesized that like CFh-402h, CFhR1 contribution to AMD risk may also be due to its diminished affinity for OxPLs. Interestingly, we found that association of CFhR1 with OxPLs was not statistically different than CFh. however, binding of CFhR1 did not elicit the same protective benefits as CFh in that both inflammation and lipid uptake are unaffected by CFhR1 association with OxPLs. These findings demonstrate a novel and interesting complexity to the potential interplay between the complement system and oxidative stress byp

关键词： Age-Related Macular Degeneration Oxidative Stress complement factor h Inflammation

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World Journal of Ophthalmology 2014年第4期4卷 130-139页

作者： Rick N Nordgren Ahmed M Elkeeb Bernard F Godley Department of Ophthalmology and Visual Sciences University of Texas Medical BranchGalvestonTX 77555United States

Age-related macular degeneration(AMD) is the leading cause of irreversible blindness in the developed world. The quality of life of both patients and families is impacted by this prevalent disease. Previously, macular degeneration had no known effective treatment. Today, vitamins for non-exudative AMD and intravitreal injection of medications for its exudative form are primary forms of current treatment. Modern advances in molecular science give rise to new possibilities of disease management. In the year 2003 the sequencing of the entire human genome was completed. Since that time, genes such as complement factor h, high-temperature requirement factor A1, and age-relateed maculopathy susceptibility 2 have been discovered and associated with a higher risk of AMD. A patient's genetic make-up may dictate the effectiveness of current or future therapeutic options. In addition, utilizing genetic data and incorporating it into new treatments(such as viral vectors) may lead to longer-lasting(or permanent) VEGF blockade and specific targeting of complement related genes. There have also been considerable advances in stem cell directed treatment of AMD. Retinal pigment epithelial(RPE) cells can be derived from human embryonic stem cells, induced pluripotent stem cells, or adult human RPE stem cells. Utilizing animal models of RPE and retinal degeneration, stem cell-derived RPE cells have been successfully implanted into the subretinal space. They have been injected as a cell mass or as a pre-prepared monolayer on a thin membrane. Visual recovery has been demonstrated in a retinal dystrophic rat model. Preliminary data on 2 human subjects also demonstrates possible early visual benefit from transplantation of stem cell-derived RPE. As more data is published, and as differentiation and implantation techniques are optimized, the stabilization and possible improvement of vision in individuals with non-exudative macular becomes a real possibility. We conclude that the technologic advances that continue to unfold in both genet