Choi, E H and Zimmerman, P A and Foster, C B and Zhu, S and Kumaraswami, V and Nutman, T B and Chanock, S J
(2001)
Genetic polymorphisms in molecules of innate
immunity and susceptibility to infection with
Wuchereria bancrofti in South India.
Genes and Immunity, 2 (5).
pp. 248-253.
ISSN Print: 1466-4879; Online: 1476-5470
Abstract
A pilot study was conducted to determine if host genetic factors influence susceptibility and outcomes in human filariasis.
Using the candidate gene approach, a well-characterized population in South India was studied using common
polymorphisms in six genes (CHIT1, MPO, NRAMP, CYBA, NCF2, and MBL2). A total of 216 individuals from South India
were genotyped; 67 normal (N), 63 asymptomatic microfilaria positive (MF+), 50 with chronic lymphatic
dysfunction/elephantiasis (CP), and 36 tropical pulmonary eosinophilia (TPE). An association was observed between the
HH variant CHIT1 genotype, which correlates with decreased activity and levels of chitotriosidase and susceptibility to
filarial infection (MF+ and CP; P = 0.013). The heterozygosity of CHIT1 gene was over-represented in the normal
individuals (P = 0.034). The XX genotype of the promoter region in MBL2 was associated with susceptibility to filariasis
(P = 0.0093). Since analysis for MBL-sufficient vs insufficient haplotypes was not informative, it is possible the MBL2
promoter association results from linkage disequilibrium with neighboring loci. We have identified two polymorphisms,
CHIT1 and MBL2 that are associated with susceptibility to human filarial infection, findings that merit further follow-up in a
larger study.
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