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


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



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





Article Type

Research Article



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, 36.910.28 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.



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



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

Edited by

P Kangueane






Biomedical Informatics



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.