Mehrotra, Sanjana ; Oommen, Joyce ; Mishra, Anshuman ; Sudharshan, Medhavi ; Tiwary, Puja ; Jamieson, Sarra E. ; Fakiola, Michaela ; Selvi Rani, Deepa ; Thangaraj, Kumarasamy ; Rai, Madhukar ; Sundar, Shyam ; Blackwell, Jenefer M. (2011) No evidence for association between SLC11A1 and visceral leishmaniasis in India BMC Medical Genetics, 12 . p. 71. ISSN 1471-2350
![]()
|
PDF
- Publisher Version
263kB |
Official URL: http://www.biomedcentral.com/1471-2350/12/71
Related URL: http://dx.doi.org/10.1186/1471-2350-12-71
Abstract
Background: SLC11A1 has pleiotropic effects on macrophage function and remains a strong candidate for infectious disease susceptibility. 5' and/or 3' polymorphisms have been associated with tuberculosis, leprosy, and visceral leishmaniasis (VL). Most studies undertaken to date were under-powered, and none has been replicated within a population. Association with tuberculosis has replicated variably across populations. Here we investigate SLC11A1 and VL in India. Methods: Nine polymorphisms (rs34448891, rs7573065, rs2276631, rs3731865, rs17221959, rs2279015, rs17235409, rs17235416, rs17229009) that tag linkage disequilibrium blocks across SLC11A1 were genotyped in primary family-based (313 cases; 176 families) and replication (941 cases; 992 controls) samples. Family- and population-based analyses were performed to look for association between SLC11A1 variants and VL. Quantitative RT/PCR was used to compare SLC11A1 expression in mRNA from paired splenic aspirates taken before and after treatment from 24 VL patients carrying different genotypes at the functional promoter GT polymorphism (rs34448891). Results: No associations were observed between VL and polymorphisms at SLC11A1 that were either robust to correction for multiple testing or replicated across primary and replication samples. No differences in expression of SLC11A1 were observed when comparing pre- and post-treatment samples, or between individuals carrying different genotypes at the GT repeat. Conclusions: This is the first well-powered study of SLC11A1 as a candidate for VL, which we conclude does not have a major role in regulating VL susceptibility in India.
Item Type: | Article |
---|---|
Source: | Copyright of this article belongs to BioMed Central. |
Keywords: | SLC11A1; Visceral Leishmaniasis; Genetic Susceptibility |
ID Code: | 71392 |
Deposited On: | 25 Nov 2011 12:53 |
Last Modified: | 18 May 2016 17:07 |
Repository Staff Only: item control page