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. 2017 Jan 7;10(1):12.
doi: 10.1186/s13071-016-1934-2.

SLC11A1 polymorphisms and host susceptibility to cutaneous leishmaniasis in Pakistan

Mariam Sophie  1 , Abdul Hameed  2 , Akhtar Muneer  3 , Azam J Samdani  4 , Saima Saleem  5 , Abid Azhar  5
Affiliations

SLC11A1 polymorphisms and host susceptibility to cutaneous leishmaniasis in Pakistan

Mariam Sophie et al. Parasit Vectors. .

Abstract

Background: The vector-borne cutaneous leishmaniasis (CL) is endemic in several regions of Pakistan mainly affecting poor populations. Host genetic factors, particularly SLC11A1 (solute carrier transmembrane protein) within macrophages, play a crucial role in disease pathology and susceptibility. Association of SLC11A1 with cutaneous leishmaniasis, a neglected tropical disease, is not well established. Inconsistencies have been observed within different populations worldwide with respect to genetic susceptibility. This study was designed to investigate genetic variation(s) in SLC11A1 and to assess possible association with cutaneous leishmaniasis in Pakistan.

Results: Eight polymorphisms (rs2276631, rs3731864, rs2290708, rs2695342, rs201565523, rs17215556, rs17235409, rs17235416) were genotyped across SLC11A1 in 274 patients and 119 healthy controls. Six polymorphisms were studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing. Two single nucleotide polymorphisms were analyzed with newly designed semi-nested PCR assays. Case-control analysis showed no association between selected polymorphisms in SLC11A1 and cutaneous leishmaniasis. No significant difference was observed in the distribution of alleles between leishmaniasis patients and healthy individuals. Strong pairwise linkage disequilibrium was observed between rs2276631 and rs2290708 (r 2 = 64); and rs17235409 and rs17235416 (r 2 = 78).

Conclusions: This study shows that genetic variations in the candidate gene SLC11A1 do not affect susceptibility to cutaneous leishmaniasis in the sample population from Pakistan.

Keywords: Cutaneous leishmaniasis; Genetic susceptibility; Pakistan; SLC11A1; Single nucleotide polymorphism.

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Figures

Fig. 1
Fig. 1
Linkage disequilibrium (LD) plot for the genotyped variations in SLC11A1 created by Haploview 4.2. For D′ LD plot, confidence bounds color scheme was used: white, strong evidence of recombination; light grey, uninformative; dark grey, strong evidence of LD. r 2 values are represented as black for r 2 = 1; white for r 2 = 0; shades of grey indicating values within the range 0 < r 2 < 1. Numbers within the squares correspond to D′ and r 2 scores for pairwise LD
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