AUTHOR=Singh HariOm , Jori Chandrashekhar , Shyamveer  , Mahajan Supriya D. , Aalinkeel Ravikumar , Kaliyappan Kathiravan , Schwartz Stanley A. , Bhattacharya Meenakshi , Shaikh Ruhi , Salve Madhukar , Deshmukh Jyoti , Ali Nemat , Parvez Mohammad Khalid 

TITLE=Comparative analysis of MTP -493G/T and ABCG2 34G/A polymorphisms and theirs expression in HIV-associated lipodystrophy patients

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2023.1177054

DOI=10.3389/fcvm.2023.1177054

ISSN=2297-055X

ABSTRACT=<p>HIV-associated lipodystrophy (HIVLD) is a metabolic condition with an irregularity in the production of lipoprotein particles, and its occurrence varies among HIV-infected patients. <italic>MTP</italic> and <italic>ABCG2</italic> genes have a role in the transport of lipoproteins. The polymorphisms of <italic>MTP</italic> -493G/T and <italic>ABCG2</italic> 34G/A affect its expression and influence the secretion and transportation of lipoproteins. Hence, we investigated the <italic>MTP -</italic>493G/T and <italic>ABCG2</italic> 34G/A polymorphisms in 187 HIV-infected patients (64 with HIVLD and 123 without HIVLD) along with 139 healthy controls using polymerase chain reaction (PCR)-restriction fragment length polymorphism and expression analysis using real-time PCR. <italic>ABCG2</italic> 34A allele showed an insignificantly reduced risk of LDHIV severity [<italic>P</italic> = 0.07, odds ratio (OR) = 0.55]. <italic>MTP</italic> -493T allele exhibited a non-significantly reduced risk for the development of dyslipidemia (<italic>P</italic> = 0.08, OR = 0.71). In patients with HIVLD<italic>, the ABCG2</italic> 34GA genotype was linked with impaired low-density lipoprotein levels and showed a reduced risk for LDHIV severity (<italic>P</italic> = 0.04, OR = 0.17). In patients without HIVLD, <italic>the ABCG2</italic> 34GA genotype was associated with impaired triglyceride levels with marginal significance and showed an increased risk for the development of dyslipidemia (<italic>P</italic> = 0.07, OR = 2.76). The expression level of <italic>MTP</italic> gene was 1.22-fold decreased in patients without HIVLD compared with that in patients with HIVLD. <italic>ABCG2</italic> gene was upregulated 2.16-fold in patients with HIVLD than in patients without HIVLD. In conclusion, <italic>MTP</italic> -493C/T polymorphism influences the expression level of <italic>MTP</italic> in patients without HIVLD. Individuals without HIVLD having <italic>ABCG2</italic> 34GA genotype with impaired triglyceride levels may facilitate dyslipidemia risk.</p>