Introduction: Early studies have suggested the role of C-C chemokine receptor type 5 (CCR5) polymorphisms in influencing HIV pathogenesis and phenotypes, including the protection against HIV infection and delaying disease progression to AIDS. This study aimed to further determine the impact of CCR5 variants (CCR5-Δ32 and CCR5- R223Q) on HIV susceptibility, viral load suppression and CD4 recovery during highly active antiretroviral therapy (HAART) among Malaysian HIV patients. Methods: This cross-sectional study involved 182 HIV-infected who were recruited from three out-patient clinics, and 150 non-HIV subjects from Malay, Chinese and Indian ethnicities. CD4 count and viral load data at 4-6 months (t1) and 8-12 months (t2) after starting HAART were gathered from hospital records. Chi-square test was used to analyse the correlation between CCR5 variants with dependent variables. Results: Heterozygous CCR5-Δ32 and CCR5-R223Q occurred in a percentage of 0.5% (1/182) and 1.7% (3/182) among HIV patients respectively, while none of homozygous mutant for CCR5-Δ32 and CCR5-R223Q were found. CCR5-R223Q was found more frequently in non-HIV as compared to the HIV group (P=0.018). However, both polymorphisms were not found to be correlated with CD4 recovery to ≥500 cells/mm3 (P>0.05) and viral load suppression ≤50 copies/mL (P>0.05). Conclusion: CCR5-R223Q and CCR5-Δ32 alleles probably have no modifying effects on HIV susceptibility virological and immunological recoveries in the first 12 months of HAART, partially due to the low prevalence of these mutations in the studied population.

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.