ABSTRACT
@#Introduction: Association studies between single nucleotide polymorphisms (SNPs) and type 2 diabetes mellitus (T2DM) have been abundant. However, there are limited reports on copy number variations (CNVs) of beta-defensins (DEFB) gene in relation to T2DM. In this study, DEFB copy numbers were quantified in T2DM with nephropathy, T2DM without nephropathy and non-diabetic control groups to investigate its influence in chronic inflammation in Malaysian individuals. Methods: DEFB copy number in Malaysian individuals were quantified by using paralogue ratio tests (PRT) which allow direct quantification of gene copy number by using PRT107A and HSPD21 PRT primers. The copy number generated was then validated from insertion/deletion ratio measurement 5DEL (rs5889219) and two microsatellite analyses (EPEV-1 and EPEV-3). Results: DEFB copy number was found extending from 2 to 8 copies in the non-diabetic group (n=146), while in T2DM group (n=392), copy numbers were more extensive, ranging between 1 and 12 copies; with 1, 10 and 12 copies detected in T2DM with nephropathy group (n=202). Statistically, there is no significant difference in DEFB copy number between T2DM and the non-diabetic group (p=0.209) as well as between diabetic nephropathy and without nephropathy of the T2DM group (p=0.522). However, significant white blood cell (WBC) count was found between T2DM groups with and without diabetic nephropathy (p=0.000). Conclusion: Extreme DEFB copy numbers in T2DM with nephropathy group suggest future studies with bigger sample size are necessary to elucidate the true impact of CNVs of DEFB gene in promoting early onset of nephropathy in T2DM.
ABSTRACT
Background: Genetic and environmental factors are known to be risk factors in development of neovascular age-related macular degeneration [nAMD]. Genetic factors such as polymorphisms in the complement component pathway genes might play a role in pathogenesis of nAMD and has been studied in various populations excluding Malaysia
Aim of the study: To determine the association of the R102G polymorphism of the complement component [C3] gene in nAMD subjects
Patients and methods: A total of 301 Malaysian subjects [149 case and 152 controls] were recruited and genotyped for the R102G [rs2230199] variant of the C3 gene. Genotyping was conducted using the PCRRFLP method and association analysis was conducted using appropriate statistical tests
Results: From our findings, no significant association was observed in the allele distribution of C3 R102G between nAMD and controls [OR = 1.42, 95% CI = 0.77-2.62, P = 0.268]. A further analysis that compared three genetic models [dominant, recessive and co-dominant] also recorded no significant difference [P > 0.05]. These findings could be due to the low frequency of the GG variant in the case [4.7%] and control [1.3%] groups, compared to the normal variant CC, which is present in 91.3% of case and 92.8% of control alleles
Conclusion: The present study showed no evidence of association between C3 R102G polymorphism and nAMD in Malaysian subjects