Different impact of high-density lipoprotein-related genetic variants on polypoidal choroidal vasculopathy and neovascular age-related macular degeneration in a Chinese Han population

Zhang, Xiongze; Li, Meng; Wen, Feng; Chen, Zuo; Chen, Hui; Wu, Kunfang; Zeng, Renpan

doi:10.1016/j.exer.2012.12.005

Cited by 59 publications

(75 citation statements)

References 41 publications

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“…There are only six studies analyzing this gene polymorphism with AMD development. Four studies found no significant association with LPL and AMD development [16,17,22,24], two studies found statistically significant association between rs1267819 and AMD development [19,26], and our results showed that LPL rs12678919 gene polymorphism 1.7 times decreased the risk of exudative AMD, as we mentioned previously. Fauser with colleagues included all stages of AMD, and no significant associations were observed for variants in LPL (rs12678919) [16].…”

Section: Discussionsupporting

confidence: 79%

“…Other study done by Zhang goes in agreement with the previous studies-this study group analyzed LIPC in 157 neovascular age-related macular degeneration (nAMD) patients, 250 polypoidal choroidal vasculopathy (PCV) patients and 204 controls without any macular abnormality. None of LIPC (rs10468017, rs493258) variants were significantly associated with nAMD, as well [24]. In agreement with this study goes Tian et al study, which analyzed 535 AMD patients and 469 controls from 16 centers that spread from the north to the south of China.…”

Section: Discussionsupporting

confidence: 77%

“…No association was found with LIPL rs10468017 gene polymorphism and AMD [17]. On the other hand other four studies [16,17,23,24] deny results, and are in conflict with the previuos studies, which proved possible risk-reducing effect on AMD development [11,12,18,19,21,22]. One study revealed rs10468017 in LIPC being associated with a decreased risk of progression from large drusen to NV [25], but it seems that this study can be in agreement with the previous six studies, which found that LIPC rs10468017 can decrease AMD development.…”

Section: Discussionmentioning

confidence: 91%

“…Another study done by Zhang tested 157 nAMD patients, 250 PCV patients and 204 controls without any macular abnormality, and LPL (rs12678919) gene polymorphism was not significantly associated with nAMD, as well [24]. Tian et al in multicenter case-control study investigated 535 AMD patients and 469 controls in LPL rs12678919, and no association with all AMD forms was found in this study [17].…”

Section: Discussionmentioning

confidence: 99%

“…Among these six studies, two studies analyzed LIPC (rs10468017) gene polymorphism [12,21] and three LIPC (rs493258) [11,18,22], while one study analyzed both gene polymorphisms [19]. Four studies found no association with AMD [16,17,23,24], two studies analyzed only rs10468017 polymorphism association with AMD [16,17] and two other studies analyzed both LIPC gene polymorphisms [23,24]. Interestingly, there was one study [25] which found an association between rs10468017 polymorphism in LIPC and a decreased risk of progression from large drusen to NV (HR=0.57, P=0.04), and from normal to intermediate drusen (HR=0.72, P=0.07) [25].…”

Section: Discussionmentioning

confidence: 99%

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LIPC rs10468017, rs493258 and LPL rs12678919 Role in Patients With Age- Related Macular Degeneration

Liutkevičienė¹,

Vilkeviciute²,

Streleckiene³

et al. 2017

J Clin Exp Ophthalmol

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Objective: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly individuals in developed countries. The etiology and pathophysiology of AMD are not fully understood. Formation of drusen is the main pathological change in AMD. Lipids make up about 40% of drusen volume, thus possible relation between AMD and genes controlling lipid metabolism could provide novel insights into AMD. Our purpose was to determine the genotype frequencies of LIPC rs10468017, rs493258 and LPL rs126789919 in patients with AMD in Lithuanian population. Methods:The study enrolled 279 patients with early AMD, 256 patients with exudative AMD, and 829 healthy controls (reference group). The genotyping was carried out using the RT-PCR.Results: LIPC rs10468017 polymorphism was associated with a decreased risk of early and exudative AMD, while LPL rs126789919 polymorphism was associated with a decreased risk of exudative AMD and LIPC rs493258 was only associated with a decreased risk of early AMD. Conclusion:The study showed that LIPC rs10468017, rs493258 and LPL rs126789919 gene polymorphisms may have a protective role in AMD development.Keywords: Age-related macular degeneration; LIPC rs10468017; LIPC rs493258; LPL rs126789919; Gene polymorphism; Early AMD; Exudative AMD; Lipid metabolism IntroductionAge-related macular degeneration (AMD) is a degenerative disease affecting central part of the retina (macula). Half of the blindness cases in industrialized countries are AMD related [1]. This disease affects 2.5 million persons in Europe, and 1.75 million in the USA [2,3]. About 13.8% of population in Lithuania is also affected by AMD. AMD is a complex disease with many contributing factors: age, oxidative stress, inflammatory processes, genetic factors and others as well as their interrelationship [4].Aging process causes changes in human retina such as the appearance of drusen, an ophthalmoscopically visible focal yellow deposition of acellular polymorphous debris between the retinal pigment epithelium and Bruch's membrane [5]. In early AMD, a large number (≤ 10) of drusen result in diffuse regions with hyperpigmentation or hypopigmentation [6,7]. Late form of AMD is classified into dry (geographic atrophy of the retinal pigment epithelium with the lack of neovascularization areas) and wet type (or exudative; new blood vessel formations in choroid, called the choroidal neovascularization areas, further leading to the formation of the disciform scars) [6]. The wet form of AMD causes more severe damage to the retina and more frequently leads to devastating consequences, such as vision loss, than the dry form of AMD [6,7].In drusen lipids represent at least 40% of the volume [8]. Thus, lipid metabolism and particularly high-density lipoprotein may be involved in the pathogenic mechanism of AMD [8]. Lipid particles accumulate within Bruch's membrane prior to the development of basal deposits or drusen. This observation has led to the hypothesis that these lipid particles contribute to drusen formation dur...

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Section: Discussionsupporting

confidence: 79%

Section: Discussionsupporting

confidence: 77%

Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

LIPC rs10468017, rs493258 and LPL rs12678919 Role in Patients With Age- Related Macular Degeneration

Liutkevičienė¹,

Vilkeviciute²,

Streleckiene³

et al. 2017

J Clin Exp Ophthalmol

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The Relationship Between Hepatic Lipase Gene Variant and Advanced Age-Related Macular Degeneration

Lou

Jin

et al. 2014

JAMA Ophthalmol

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IMPORTANCE To date, no consistency exists across studies that have evaluated the relationship between hepatic lipase gene (LIPC) rs10468017 variant and advanced age-related macular degeneration (AMD).OBJECTIVE To summarize all relevant evidence for a relationship between LIPC variant and advanced AMD.DATA SOURCES The PubMed and Embase databases were searched for studies potentially eligible in any language published up to September 15, 2013. STUDY SELECTION Case-control studies of 2 or more comparison groups that included patients with advanced AMD (choroidal neovascularization or geographic atrophy). DATA EXTRACTION AND SYNTHESIS Allele frequencies and genotype distributions of rs10468017 variant.MAIN OUTCOMES AND MEASURES Summary odds ratios (ORs) and 95% CIs were estimated under different genetic models using meta-analytic methods. A stratified analysis by advanced AMD subtypes and race/ethnicity was performed, as well as a sensitivity analysis.RESULTS Data from 10 case-control studies were included in the meta-analysis. The rs10468017 variant (C→T) showed significant summary ORs of 0.81 (95% CI, 0.75-0.88), 0.83 (95% CI, 0.70-0.98), and 0.60 (95% CI, 0.44-0.81) under the allelic (T vs C), heterozygous (TC vs CC), and homozygous (TT vs CC) models, respectively. Carrying at least 1 copy of the T allele decreased the risk of choroidal neovascularization and geographic atrophy by 20% (OR, 0.80; 95% CI, 0.74-0.87) and 29% (OR, 0.71; 95% CI, 0.59-0.86), respectively. The pooled OR for white race/ethnicity under an allelic model was 0.80 (95% CI, 0.74-0.87). The sensitivity analysis indicated the robustness of our findings, and no evidence of publication bias was observed in our meta-analysis. CONCLUSIONS AND RELEVANCEOur meta-analysis indicates that LIPC rs10468017 variant is associated with a reduced risk of advanced AMD. This finding may lead to insights regarding the pathogenesis, prevention, and treatment of AMD.

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Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age‐related macular degeneration

Liutkevičienė

Vilkeviciute

Kriauciuniene

et al. 2020

Molec Gen & Gen Med

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Background Age‐related macular degeneration (AMD) is the leading cause of blindness in the elderly individuals. The etiology of AMD includes environmental and genetic factors. Methods We aimed to determine the association between CETP (rs5882; rs708272; rs3764261; rs1800775; rs2303790), AGER (rs1800624; rs1800625), and CYP4F2 (rs1558139) gene polymorphisms and development of atrophic AMD. About 52 patients with atrophic AMD and 800 healthy control subjects were evaluated. The genotyping of single‐nucleotide polymorphisms in CETP, AGER, and CYP4F2 was carried out using the real‐time‐PCR method. Results Genetic risk models in the analysis of CETP rs5882 revealed statistically significant variables with increased risk of atrophic AMD in the codominant (p < .001), dominant (p < .001), recessive (p < .001), and additive (p < .001) models with the highest 25.4‐fold increased risk of atrophic AMD in the codominant model (p < .001). The AGER rs1800625 was associated with a highly increased risk of atrophic AMD in the codominant (p < .001), recessive (p < .001), and additive (p < .001) genetic models. Conclusion We identified two polymorphisms with a higher risk of atrophic AMD (CETP rs5882 and AGER rs1800625).

show abstract

Different impact of high-density lipoprotein-related genetic variants on polypoidal choroidal vasculopathy and neovascular age-related macular degeneration in a Chinese Han population

Cited by 59 publications

References 41 publications

LIPC rs10468017, rs493258 and LPL rs12678919 Role in Patients With Age- Related Macular Degeneration

LIPC rs10468017, rs493258 and LPL rs12678919 Role in Patients With Age- Related Macular Degeneration

The Relationship Between Hepatic Lipase Gene Variant and Advanced Age-Related Macular Degeneration

Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age‐related macular degeneration

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