Title

Duplication mutation in CHIT1 gene is associated with poor response to medical therapy in patients affected with filarial chyluria
 

Authors

^1,*Shriya Pant, ¹Apul Goel, ¹Pravin Gangwar, ²Prashant Gupta, ³Aakancha Pandey, ¹Satya Narayan Sankhwar

Affiliation

¹Department of Urology, King George's Medical University, India; ²Department of Microbiology, King George's Medical University, Inida; ³Department of Obstetrics and Gynaecology, King George's Medical University, India

Email

shreyapant.18sep@gmail.com

Article Type

Research Article

Date

Submitted on July 25, 2020; Revision August 3, 2020; Accepted August 4, 2020; Published September 30, 2020

We explore the impact of CHIT1 gene mutation on clinical, biochemical parameters and response to outcome (remission/failure) of medical treatment in North Indian filarial chyluria (FC) patients. Data of 101 subjects of FC treated medically between March 2013 and April 2016 in whom CHIT1 gene polymorphism was determined were analyzed. Filarial etiology was confirmed by DEC-provocative test, immuno-chromatographic test and IgG/IgM-combo rapid antibody test. CHIT1 gene polymorphism was genotyped by polymerase chain reaction. Of 101 patients (mean age, 36.9±10.28 years; male: female, 3:1.2), 66 experienced remission (Group-A) while 35 experienced relapse or failed to respond (Group-B). A significant association was observed between CHIT1 genotypes and higher grade of disease (p= 0.001). Wild-type, heterozygous and homozygous mutant frequencies of CHIT1 genotypes were 78.6%, 72.5% and 27.8% in remission and 21.4%, 27.5% and 72.2%, in recurrence/failure, respectively. Our results showed that patients with mutant genotype (TT) of CHIT1 gene showed significantly higher rate of recurrence or failure to medical therapy than wild type (HH) genotypes [OR (95% CI) = 9.53 (1.84- 49.21), p=0.011]. This preliminary study showed the impact of CHIT1 gene variants on treatment outcome in FC patients. This observation needs to be confirmed using studies with larger numbers of FC patients.

Keywords

Lymphatic Filariasis; Chitotriosidase gene; Triglycerides; Infection; Genetic polymorphism

Citation

Pant et al. Bioinformation 16(9): 688-694 (2020)

Edited by

P Kangueane

ISSN

0973-2063

Publisher

Biomedical Informatics

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.