Abstract
Lymphatic filariasis has become a significant public health issue in North India. The association of polymorphisms in MBL2 gene with filarial chyluria (FC) is evaluated in the North Indian patients for the first time. Hence, a tertiary care hospital based case-control study was conducted in north India where FC is endemic. Therefore, 186 confirmed patients of FC as cases and 210 age-, sex- and residence-matched subjects as controls were enrolled for the study. Filarial etiology was confirmed using diethylcarbamazine (DEC)-provocation test, immune chromatographic test and IgG/IgM antibody test. MBL2 gene polymorphisms at codon 54 and -221 promoter region were genotyped by PCR followed by RFLP. Wild-type, heterozygous and homozygous mutant frequencies of MBL2 genotype at the codon 54 were 57.5%, 32.8% and 9.7% in the case group and 62.9%, 30.5% and 6.7%, in controls, respectively. The same at the -221 position were 51.1%, 44.1% and 4.8% in FC patients and 44.3%, 40.0% and 15.7% in controls, respectively. Thus, results no significant association between MBL2 polymorphism at codon 54 and FC. However, polymorphism at the -221 promoter region is linked with FC with a significant odd-ratio of 0.27 (confidence interval at 95% was 0.12-0.59; p<0.001). This preliminary finding is intriguing for further confirmation using a larger study with more patients.
Highlights
Chyluria is an uncommon and delayed manifestation of lymphatic filariasis (LF) and is characterized by the presence of chyle in urine resulting from fistulous communications between the lymphatics and the urinary tract [1]
No significant association was observed between case and control group for variation at codon-54 and susceptibility to filarial chyluria (FC)
Allelic frequencies of MBL2 at codon54 showed no significant differences between the two groups (p>0.05)
Summary
Chyluria is an uncommon and delayed manifestation of lymphatic filariasis (LF) and is characterized by the presence of chyle in urine resulting from fistulous communications between the lymphatics and the urinary tract [1]. It is estimated that around 1,100 million people across the world are living in endemic regions for LF and exposed to risk of developing infection. Of the total global burden, India contributes about 40% and approximately 50% of the residents at risk of filarial infection [2]. The World Health Organization declared LF as a “neglected” tropical disease initiating “The Global Program for Elimination of Lymphatic. Up to 10% of patients with filariasis develop chyluria. It is predicted that approximately 90% cases globally and more than 99% filarial cases in our country are due to the infection of the parasite Wuchereria bancrofti [5]. As the chances of mosquito bite remains the same in endemic areas, the answer to predilection for LF probably lies in genetic studies.
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