Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups

2003 ◽  
Vol 103 (2) ◽  
pp. 200-207 ◽  
Author(s):  
Setareh Torabian Esfahani ◽  
Edward A Cogger ◽  
Marie A Caudill
Keyword(s):  
Ethnic Groups ◽  
Gene Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

scholarly journals Pulmonary Embolism in a Sarcoidosis Patient Double Heterozygous for Methylenetetrahydrofolate Reductase Gene Polymorphisms and Factor V Leiden and Homozygous for the D-Allele of Angiotensin Converting Enzyme Gene

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Nadim El-Majzoub ◽  
Rami Mahfouz ◽  
Nadim Kanj
Keyword(s):  
Pulmonary Embolism ◽  
Gene Polymorphisms ◽  
Methylenetetrahydrofolate Reductase ◽  
Factor V Leiden ◽  
Factor V ◽  
Angiotensin Converting Enzyme Gene ◽  
Converting Enzyme ◽  
Enzyme Gene ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

Sarcoidosis is a multisystem granulomatous disease of unknown etiology and pathogenesis. It presents in patients younger than 40 years of age. The lungs are the most commonly affected organ. Till the present day, there is no single specific test that will accurately diagnose sarcoidosis; as a result, the diagnosis of sarcoidosis relies on a combination of clinical, radiologic, and histologic findings. Patients with sarcoidosis have been found to have an increased risk of pulmonary embolism compared to the normal population. MTHFR and factor V Leiden mutations have been reported to increase the risk of thrombosis in patients. We hereby present a case of a middle aged man with sarcoidosis who developed a right main pulmonary embolism and was found to be double heterozygous for methylenetetrahydrofolate reductase gene polymorphisms and factor V Leiden and homozygous for the D-allele of the angiotensin converting enzyme gene.

Sign in / Sign up

Export Citation Format

Share Document