scholarly journals Pleckstrin-Homology-Domain-Containing Protein (PLEKHA1) gene and their association with age related macular degeneration (AMD) in Indian patients

Author(s):  
Divya Gupta ◽  
Shobhit Chawla ◽  
Shubha R Phadke

Background: Age-related macular degeneration (AMD) is an important cause of visual impairment in elderly people. AMD is a multifactorial disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been found to be associated with AMD. Aim: This study was aimed to investigate the association of polymorphisms in PLEKHA1 rs4146894 (G>A) gene with age related macular degeneration (AMD) in Indian patients. Method: Genotyping for the PLEKHA1 rs4146894 (G>A) polymorphism performed in 121 AMD patients and 100 controls by polymerase chain reaction (PCR) and sequencing method. Results: This is the first study from India on PLEKHA1 rs4146894 (G>A) polymorphism. In this study, we did not get any change in DNA sequence by sequencing method. So, we can say that the risk allele of PLEKHA1 rs4146894 (G>A) polymorphism is not find in Indian population. On the other hand in Indian population the risk of A allele is not present, and this gene is not playing any significant contribution with AMD in Indian population. Conclusion: Very limited literatures are available for PLEKHA1 polymorphism in AMD patients, though, it is quite possible that the variation in the data shows population based differences. So, the present study raises the possibility that PLEKHA1 rs4146894 (G>A) polymorphism may not have a significant association with AMD in Indian patients.

2017 ◽  
Vol 102 (9) ◽  
pp. 1213-1217 ◽  
Author(s):  
Anand Rajendran ◽  
Pankaja Dhoble ◽  
Periasamy Sundaresan ◽  
Vijayan Saravanan ◽  
Praveen Vashist ◽  
...  

Background/AimsThere are limited data from India on genetic variants influencing late age-related macular degeneration (AMD). We have previously reported associations from a population-based study in India (the India age-related eye disease study (INDEYE)) of early AMD and single nucleotide polymorphisms (SNPs) in ARMS2/HTRA1 and no association with CFH, C2 or CFB. Late AMD cases were too few for meaningful analyses. We aimed to investigate SNPs for late AMD through case enrichment and extend the loci for early AMD.MethodsFundus images of late AMD hospital cases were independently graded by the modified Wisconsin AMD grading scheme. In total 510 cases with late AMD (14 geographic atrophy and 496 neovascular AMD (nvAMD)), 1876 with early AMD and 1176 with no signs of AMD underwent genotyping for selected SNPs. We investigated genotype and per-allele additive associations (OR and 95% CIs) with nvAMD or early AMD. Bonferroni adjusted P values are presented.ResultsWe found associations with nvAMD for CFHY402H variant (rs1061170) (OR=1.99, 95% CI 1.67 to 2.37, P=10−6), ARMS2 (rs10490924) (OR=2.94, 95% CI 2.45 to 3.52, P=10−9), C2 (rs547154) (OR=0.67, 95% CI 0.53 to 0.85, P=0.01), ABCA1 (rs1883025) (OR=0.77, 95% CI 0.65 to 0.92, P=0.04) and an SNP near VEGFA (rs4711751) (OR=0.64, 95% CI 0.54 to 0.77, P=10−3). We found no associations of TLR3 (rs3775291), CFD (rs3826945), FRK (rs1999930) or LIPC (rs10468017) or APOE ε4 alleles with nvAMD or early AMD, nor between early AMD and rs1883025 or rs4711751.ConclusionsThe major genetic determinants of nvAMD risk in India are similar to those in other ancestries, while findings for early AMD suggest potential differences in the pathophysiology of AMD development.


2021 ◽  
pp. 112067212110026
Author(s):  
Pablo Gili ◽  
Leyre Lloreda Martín ◽  
José-Carlos Martín-Rodrigo ◽  
Naon Kim-Yeon ◽  
Laura Modamio-Gardeta ◽  
...  

Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.


PLoS ONE ◽  
2012 ◽  
Vol 7 (11) ◽  
pp. e49905 ◽  
Author(s):  
Akshay Anand ◽  
Neel Kamal Sharma ◽  
Amod Gupta ◽  
Sudesh Prabhakar ◽  
Suresh Kumar Sharma ◽  
...  

2010 ◽  
Vol 74 (3) ◽  
pp. 195-201 ◽  
Author(s):  
Juan A. Ayala-Haedo ◽  
Paul J. Gallins ◽  
Patrice L. Whitehead ◽  
Stephen G. Schwartz ◽  
Jaclyn L. Kovach ◽  
...  

2018 ◽  
Vol 136 (6) ◽  
pp. 682 ◽  
Author(s):  
Lisa Y. Lin ◽  
Qiang Zhou ◽  
Stephanie Hagstrom ◽  
Maureen G. Maguire ◽  
Ebenezer Daniel ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document