Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis
- PDF / 1,449,017 Bytes
- 9 Pages / 595.276 x 790.866 pts Page_size
- 105 Downloads / 171 Views
ORIGINAL RESEARCH ARTICLE
Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis Minal Umesh Paradkar1 • Balkrishna Padate2 • Swarup A. V. Shah1 Hiral Vora1 • Tester F. Ashavaid3
•
Received: 19 November 2018 / Accepted: 20 August 2019 Ó Association of Clinical Biochemists of India 2019
Abstract Hyperhomocysteinemia known to be associated with increased thrombotic tendency has been considered as a risk factor for coronary artery disease, atherosclerosis, venous thrombosis, and stroke. There are three main genes MTHFR, cystathionine beta-synthase (CBS) and methionine synthase (MS) and it’s genetic variant that are known to influence the homocysteine metabolism leading to hyperhomocysteinemia. There is scarcity of Indian data on hyperhomocysteinemia and genetics variants in patients with thrombosis. Hence the objective of present study was to determine MTHFR, CBS, and MS genetic variants in Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12291-019-00846-9) contains supplementary material, which is available to authorized users. & Tester F. Ashavaid [email protected] Minal Umesh Paradkar [email protected] Balkrishna Padate [email protected] Swarup A. V. Shah [email protected] Hiral Vora [email protected] 1
Research Laboratories, P. D. Hinduja Hospital & Medical Research Centre, Lalita Girdhar Bldg (S1), Veer Savarkar Marg, Mahim, Mumbai 400016, India
2
Department of Hemato-Oncology and Bone Marrow Transplant, P. D. Hinduja Hospital & Medical Research Centre, Veer Savrkar Marg, Mumbai 400016, India
3
Department of Laboratory Medicine, Biochemistry Laboratory, P. D. Hinduja Hospital & Medical Research Center, Lalita Girdhar Bldg (S1), Veer Savarkar Marg, Mahim, Mumbai 400 016, India
thrombosis patients from Indian population. Genetic variant analysis was performed on thrombosis patients to detect MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), MS A2756G (rs1805087) and CBS T833C (rs5742905) mutations. The mutant allele frequencies of MTHFR 677T, MTHFR 1298C, MS2756G and CBS 833C were observed to be 16.1%, 37.5%, 34.1% and 5.8% respectively. MTHFR 677TT genotype was observed to be significantly associated with elevated homocysteine (Hcy) levels (64.65 lmol/L) alleles as compared to CC alleles (32.43 lmol/L) and CT alleles (30.54 lmol/L). MTHFR A1298C, MS A2756G and CBS T833C genotypes did not showed significant association with higher Hcy levels. Thus, in Indian patients with thrombosis only MTHFR T677T genotype was observed to be significantly associated with hyperhomocysteinemia. Keywords Hyperhomocysteinemia MTHFR mutants Thrombosis Indians
Introduction Hyperhomocysteinemia known to be associated with increased thrombotic tendency has been considered as a risk factor for coronary artery disease (CAD) and atherosclerosis. However, few studies have reported no association between acute myocardial infarction (MI) and hyperhomocysteinemia. Mild to
Data Loading...
