Does 24bp Duplication of Human CHIT1 Gene (Chitotriosidase1) Predispose to Filarial Chyluria? A Case-Control Study

Pant, Shriya; Agarwal, Jyotsna; Goel, Apul; Gangwar, Pravin Kumar; Waseem, Mohammad; Gupta, Prashant; Sankhwar, Satya Narayan; Purkait, Bimalesh

doi:10.7860/jcdr/2016/20987.8423

Cited by 5 publications

(11 citation statements)

References 20 publications

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“…Genotype frequencies of 24 bp duplication in the Thai and Myanmar populations were also different from both studies in Southern India and Papua New Guinea. While 24 bp duplication homozygous (INS/INS) is rare (<1%) in the Papua New Guinea study (both healthy controls and infected group), it is higher in infected groups in Northern and Southern India, compared with healthy controls [6,19,20]. In contrast to our study, 24 bp duplication homozygous (INS/INS) was overrepresented in EN.…”

Section: Discussioncontrasting

confidence: 99%

“…CHIT1, produced by activated macrophages, plays a role in degrading chitin-containing pathogens, such as C. albicans and M. mycetomatis , as well as microfilariae of the filarial parasite, W. bancrofti [14]. CHIT1 deficiency, due to the polymorphisms, increases the susceptibility to BF and filarial chyluria in Southern and Northern India, respectively [6,19]. However, the 24 bp duplication is not associated with BF in Papua New Guinea study [20].…”

Section: Discussionmentioning

confidence: 99%

“…However, there are discrepancies of CHIT1 polymorphism. Polymorphism of the 24 bp duplication in exon 10 of CHIT1 increases the susceptibility to BF and filarial chyluria in the Southern and Northern India, respectively [6,19]. However, the 24 bp duplication is not associated with BF in the Papua New Guinea study [20].…”

Section: Introductionmentioning

confidence: 99%

“…Interestingly, there are discrepancies of the association between CHIT1 polymorphisms and susceptibility to BF in different ethnic populations [6,19,20]. The study in Southern India showed that the 24 bp duplication of CHIT1 increases the susceptibility to BF [6] and associated with the filarial chyluria in the Northern India patients [18].…”

Section: Introductionmentioning

confidence: 99%

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The Genetic Polymorphisms of 24 Base Pair Duplication and Point G102S of Human Chitotriosidase to Bancroftian Filariasis at the Thai–Myanmar Border

2019

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Lymphatic filariasis, caused by lymphatic filarial parasites, Wuchereria bancrofti, and Brugia malayi, causes significant morbidity and disability to 120 million people in the tropics and subtropics. Chitin has an important role for embryogenesis in adult worms and is a component of microfilaria sheath. Human chitotriosidase (CHIT1) is a chitin-degrading enzyme which provides a protective role against chitin-containing pathogens. Here, we determined the association of CHIT1 polymorphisms with susceptibility to bancroftian filariasis (BF) in 88 individuals at the Thai–Myanmar border. Two common polymorphisms of CHIT1, contributing inactive CHIT protein, including 24 base pair (24 bp) duplication in exon 10, and p. G102S in exon 4 were genotyped by allele-specific Polymerase Chain Reaction (PCR) and PCR sequencing, respectively. Unexpectedly, genotype frequencies of 24 bp duplication insertion homozygous (INS/INS) were significantly higher in endemic normal (EN) (40.0%) than BF patients (31.4%). In contrast, genotype frequencies of p. G102S homozygous (A/A) in BF patients (21.6%) was higher than in EN (19.0%) without statistical difference. Mutant allele frequencies of 24 bp duplication were 0.6125 (98/160) and p. G102S were 0.392 (69/176). Genotype and allele frequencies of CHIT1, 24 bp duplication, and p. G102S, showed no association with BF patients.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The Genetic Polymorphisms of 24 Base Pair Duplication and Point G102S of Human Chitotriosidase to Bancroftian Filariasis at the Thai–Myanmar Border

2019

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“…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]. The factors that predispose a person to develop LF have not been investigated.…”

Section: Introductionmentioning

confidence: 99%

Genetic association of MBL-2 gene polymorphisms with Filarial chyluria

et al. 2019

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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.

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Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders

Kadali¹,

Madalasa²,

Reddy³

et al. 2018

Clinical Biochemistry

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Does 24bp Duplication of Human CHIT1 Gene (Chitotriosidase1) Predispose to Filarial Chyluria? A Case-Control Study

Cited by 5 publications

References 20 publications

The Genetic Polymorphisms of 24 Base Pair Duplication and Point G102S of Human Chitotriosidase to Bancroftian Filariasis at the Thai–Myanmar Border

The Genetic Polymorphisms of 24 Base Pair Duplication and Point G102S of Human Chitotriosidase to Bancroftian Filariasis at the Thai–Myanmar Border

Genetic association of MBL-2 gene polymorphisms with Filarial chyluria

Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders

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