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AB025. PDGFRA gene polymorphism and corneal curvature in Indonesian people with astigmatism

ABSTRACT: Background Astigmatism is a refraction error that could be caused by anomaly in corneal curvature. PDGFRA gene could be associated with astigmatism because the protein is contributed in corneal structure. This study aimed to find the association between single nucleotide polymorphisms (SNP) rs17084051 C > A on platelet-derived growth factor receptor alpha (PDGFRA) gene with corneal curvature in Indonesian people who had astigmatism. Methods This was a descriptive observational study using cross-sectional design. This study recruited 73 people with inclusion criteria: male or female minimum 18 years old with astigmatism on both eyes, never had surgery on both eyes, and did not have other than Indonesian ancestors. Only 57 DNA samples were included in amplification refractory mutation system (ARMS) PCR. DNA post PCR was visualized on agarose gel and gel doc. Results Astigmatism age of onset on average was 8.5 years old. Subject with family history of astigmatism was 41.10%. Corneal curvature for right and left eyes on average was 7.73±0.23 and 7.72±0.24 mm, respectively. Allele distribution were CC (49.12%), AA (8.77%), and CA (42.11%). Wild-type allele frequency C was 70.18% and mutant allele frequency A was 29.82%. The p-value for association between mutant allele of rs17084051 and corneal curvature of right and left eyes were 0.191 and 0.501 (P>0.05). Conclusions Steeper corneal curvature in Indonesian people who had astigmatism were not caused by mutant allele rs17084051 C > A, but maybe caused by other factors.

SUBMITTER: Purwoko M

PROVIDER: S-EPMC5641764 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Project description:BackgroundThe VEGF gene polymorphism rs699947 related to clinical pathology, mortality, and recurrence of HCC. Few studies mentioned an association between VEGF gene polymorphisms with illness progression in chronic liver disease. We aimed to explore differences of VEGF gene polymorphism rs699947 in chronic hepatitis, liver cirrhosis and hepatocellular carcinoma patients in Indonesian population.MethodsA cross-sectional study with consecutive sampling and without matching was performed during a 3 years period (2011-2014) at Dr. Sardjito General Hospital Yogyakarta, Indonesia. Blood DNA was sequenced from 123 subjects with chronic liver diseases [39 chronic hepatitis (CH), 39 liver cirrhosis (LC), and 45 hepatocellular carcinoma (HCC)]. 59 healthy subjects also participated. Using isolated VEGF genes for specific primers for rs699947, blood samples were examined by targeting DNA sequences with Applied Bio systems. All data were analyzed using STATA version 11.0 with significance level at P<0.05.ResultsThe mean of age in HCC and LC subjects were older than in CH and healthy (P value <0.05); there were more males in LC, HCC and the healthy groups but not in CH (P>0.05). HBV was the dominant etiology in HCC, LC, and CH besides HCV and non HBV-HCV (P<0.05). There were significant differences in the SNP -2578 distributions of allele C compared to allele A in all subjects (healthy vs. LC, and HCC; LC vs. CH (P<0.05), but no significant difference A>C vs. C>C, and genotypes distribution. Proportion of SNP -2578 A>C vs. C>C CH 1.8:1; HCC 1.4:1; healthy 1.7:1; but its proportion in LC was inversed (1:1.2). Genotype A was low in all subjects (5%-11%). Significant difference of allele distribution was found in healthy vs. LC, and HCC; CH vs. LC. Based on HWE analyses, distribution of allele C was dominant. There were not significant differences in deletion, insertion-deletion at -2547 until -2526, and haplotype (Ht) CCGACCCC (P>0.05). The OR analyses of allele and SNP showed that allele A can be a predictor of disease progression in LC to HCC (OR 2.26) and healthy to LC (OR 1.65); and SNP A>C also can be a predictor in healthy to HCC (OR 1.41) and CH (OR 1.14).ConclusionThe occurrence of allele A and SNP A>C VEGF gene (-2578) might predict illness progression from healthy to CH, LC or HCC and LC to HCC.

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AB025. PDGFRA gene polymorphism and corneal curvature in Indonesian people with astigmatism

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