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Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis

Minal Umesh Paradkar1, Balkrishna Padate2, Swarup A V Shah1

  • 1Research Laboratories, P. D. Hinduja Hospital & Medical Research Centre, Lalita Girdhar Bldg (S1), Veer Savarkar Marg, Mahim, Mumbai 400016, India.

Indian Journal of Clinical Biochemistry : IJCB
|October 5, 2020
PubMed

Insights

In Indian thrombosis patients, the MTHFR T677T genotype significantly elevates homocysteine levels, a risk factor for cardiovascular events. Other genetic variants in CBS and MS genes showed no significant association with hyperhomocysteinemia.

Area of Science:

  • Medical Genetics
  • Cardiovascular Research
  • Thrombosis Studies

Background:

  • Hyperhomocysteinemia is a known risk factor for thrombotic disorders including coronary artery disease, atherosclerosis, venous thrombosis, and stroke.
  • Genetic variants in MTHFR, CBS, and MS genes influence homocysteine metabolism, potentially leading to hyperhomocysteinemia.
  • Limited Indian data exists on genetic variants associated with hyperhomocysteinemia in thrombosis patients.

Purpose of the Study:

  • To investigate the prevalence of MTHFR, CBS, and MS genetic variants in Indian patients diagnosed with thrombosis.
  • To determine the association between specific genetic variants and elevated homocysteine levels in this patient cohort.

Main Methods:

  • Genetic variant analysis was conducted on thrombosis patients to identify mutations in MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), MS A2756G (rs1805087), and CBS T833C (rs5742905).
  • Mutant allele frequencies for MTHFR 677T, MTHFR 1298C, MS2756G, and CBS 833C were calculated.
  • Association between genotypes and homocysteine (Hcy) levels was analyzed.

Main Results:

  • Mutant allele frequencies were observed as: MTHFR 677T (16.1%), MTHFR 1298C (37.5%), MS2756G (34.1%), and CBS 833C (5.8%).
  • The MTHFR 677TT genotype showed a significant association with elevated homocysteine levels (64.65 μmol/L) compared to CC (32.43 μmol/L) and CT (30.54 μmol/L) genotypes.
  • No significant association was found between MTHFR A1298C, MS A2756G, and CBS T833C genotypes and higher Hcy levels.

Conclusions:

  • The MTHFR T677T genotype is significantly associated with hyperhomocysteinemia in Indian patients presenting with thrombosis.
  • This finding highlights the MTHFR T677T variant as a potential genetic risk factor for thrombosis-related hyperhomocysteinemia in the Indian population.

Keywords:
HyperhomocysteinemiaIndiansMTHFR mutantsThrombosis

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