Association between PLA2G7 and CCL2 variants and diabetic retinopathy in Koreans

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의과대학 의학과
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서울대학교 대학원
diabetic retinopathyinflammationgenetic risk factorlipoprotein-associated phospholipase A2monocyte chemoattractant protein-1
학위논문 (박사)-- 서울대학교 대학원 : 의학과 안과학 저공, 2016. 8. 박규형.
Purpose: To investigate the association between 2 single nucleotide polymorphisms (SNPs), PLA2G7 rs76863441 and CCL2 rs1024611, and diabetic retinopathy (DR) in Korean patients.
Methods: This was a cross-sectional, multi-center case control study involving 1,516 DR and 7,437 control subjects consisting of 2 subgroups
those with diabetes but no DR (diabetic control, n=571) and those without diabetes (healthy control, n=6,866). Baseline demographic data was collected through a detailed questionnaire and electronic medical record review. DR patients were graded according to their worst-ever DR phenotype for each eye as having either no DR, mild non-proliferative diabetic retinopathy (NPDR), moderate NPDR, severe NPDR, or proliferative diabetic retinopathy (PDR). Each patient was designated with the worse eye DR phenotype. Two SNPs, PLA2G7 rs76863441 and CCL2 rs1024611, encoding the enzyme lipoprotein-associated phospholipase A2 (Lp-PLA2) and pro-inflammatory chemokine monocyte chemoattractant protein-1 (MCP-1), respectively, were genotyped using a customized biobank array. Logistic regression analysis was done with adjustment for age, sex, body mass index (BMI) and HbA1c to assess the association of the 2 SNPs with DR.
Results: DR patients were significantly older, had higher HbA1c, more likely to have hyperlipidemia and hypertension in comparison to both diabetic and healthy control. PLA2G7 rs76863441 did not show significant association when DR patients were compared with the 2 control subgroups. CCL2 rs1024611 showed significant association with DR cases compared to healthy controls in the dominant and codominant genotype association models (P = 0.039 and 0.038), and allele association analysis (P = 0.037). There was no association for DR cases compared to diabetic control.
Conclusion: There was no significant association between PLA2G7 rs76863441, CCL2 rs1024611and DR in Korean patients. CCL2 rs1024611 showed significant association when DR cases were compared to healthy controls. Since this may be due to the presence of diabetes, further studies are warranted to determine the role of MCP-1 in the pathogenesis of diabetes in Koreans.
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College of Medicine/School of Medicine (의과대학/대학원)Dept. of Medicine (의학과)Theses (Ph.D. / Sc.D._의학과)
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