Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Jun;29(2):99-103.
doi: 10.5455/aim.2021.29.99-103.

Transthyretin Gene Mutation Associated with Familial Carpal Tunnel Syndrome in Sample of Iraqi Patients

Rihab H Al-Mudhafar  1 , Ihsan M Ajeena  2 , Iman J Al-Awadi  3 , Dhefaf H Al-Mudhafar  3 , Najah R Hadi  4
Affiliations

Transthyretin Gene Mutation Associated with Familial Carpal Tunnel Syndrome in Sample of Iraqi Patients

Rihab H Al-Mudhafar et al. Acta Inform Med. 2021 Jun.

Abstract

Background: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy in upper limbs. It affects women more frequently than men. CTS can be caused by many different systemic diseases and local mechanical conditions and it had signs and symptoms due to compression of median nerve at the carpal tunnel in wrist.

Objective: The present study aims to study whether Transthyretin (TTR) gene polymorphisms have association with the development of FCTS.

Methods: Sixty-four patients suffering from CTS were enrolled in this controlled cross sectional study. For all, nerve conduction study was performed to prove the diagnosis of CTS and to classify its severity. The mean age of all patients was 44.9±7.8 years, 89.1 % were female, 37.5 % had mild type CTS and 40.7 % had right side CTS. 3 mL of peripheral blood was collected from all patients which is a labeled (EDTA) tube at -20 C° for DNA extraction to identify a particular SNP (rs28933979; 148G/A; V50M) that locates at position chr18:31592974 on the exon-2 region which is reported to be associated to the Carpal Tunnel Syndrome. Exon-2 of TTR gene was amplified using the PCR technique and subjected to be tested for presence of SNP by Restriction Fragment Length Polymorphism (RFLP) assay.

Results and conclusion: According to genetic variation, the study cannot discover any TTR gene polymorphism that back to FCTS.

Keywords: Familial Carpal Tunnel Syndrome; TTR.

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

References

    1. Lee J, Lim S, Kim S. Validation of known risk factors associated with carpal tunnel syndrome: A retrospective nationwide 11-year population-based cohort study in South Korea. bioRxiv. 2018:1–25. doi: 10.1101/253666. - DOI
    1. Petrovera D, Richettec P. Treatment of carpal tunnel syndrome: from ultrasonography to ultrasound guided carpal tunnel release. Joint Bone Spine. 2018 Oct;85(5):545–552. doi: 10.1016/j.jbspin.2017.11.003. - DOI - PubMed
    1. Zyluk A. The role of genetic factor in carpal tunnel syndrome etiology: A review. Adv Clin Exp Med. 2020 May;29(5):623–628. doi: 10.17219/acem/118846. - DOI - PubMed
    1. Lozano-Calderon S, Anthony S, Ring D. The quality and strength of evidence for etiology: example of carpal tunnel syndrome. J Hand Surg Am. 2008;33(4):525–538. doi: 10.1016/j.jhsa.2008.01.004. - DOI - PubMed
    1. Nusrat A. Diagnosis of carpal tunnel syndrome in perspective of clinical features, neurophysiologic studies and high resolution ultrasound. World Journal of Advanced Research and Reviews. 2020;6(3):86–96. doi: 10.30574/wjarr.2020.6.3.0182. - DOI

LinkOut - more resources