No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India
<p>Abstract</p> <p>Background</p> <p><it>SLC11A1 </it>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, a...
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| Format: | Article |
| Language: | English |
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BMC
2011-05-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://www.biomedcentral.com/1471-2350/12/71 |
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| author | Fakiola Michaela Jamieson Sarra E Tiwary Puja Sudharshan Medhavi Mishra Anshuman Oommen Joyce Mehrotra Sanjana Rani Deepa Thangaraj Kumarasamy Rai Madhukar Sundar Shyam Blackwell Jenefer M |
| author_facet | Fakiola Michaela Jamieson Sarra E Tiwary Puja Sudharshan Medhavi Mishra Anshuman Oommen Joyce Mehrotra Sanjana Rani Deepa Thangaraj Kumarasamy Rai Madhukar Sundar Shyam Blackwell Jenefer M |
| author_sort | Fakiola Michaela |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p><it>SLC11A1 </it>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 <it>SLC11A1 </it>and VL in India.</p> <p>Methods</p> <p>Nine polymorphisms (rs34448891, rs7573065, rs2276631, rs3731865, rs17221959, rs2279015, rs17235409, rs17235416, rs17229009) that tag linkage disequilibrium blocks across <it>SLC11A1 </it>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 <it>SLC11A1 </it>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<sub>n </sub>polymorphism (rs34448891).</p> <p>Results</p> <p>No associations were observed between VL and polymorphisms at <it>SLC11A1 </it>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<sub>n </sub>repeat.</p> <p>Conclusions</p> <p>This is the first well-powered study of <it>SLC11A1 </it>as a candidate for VL, which we conclude does not have a major role in regulating VL susceptibility in India.</p> |
| first_indexed | 2024-12-19T20:57:46Z |
| format | Article |
| id | doaj.art-368d2ca15d6c431ba952191a9bc1b26b |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-19T20:57:46Z |
| publishDate | 2011-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-368d2ca15d6c431ba952191a9bc1b26b2022-12-21T20:05:55ZengBMCBMC Medical Genetics1471-23502011-05-011217110.1186/1471-2350-12-71No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in IndiaFakiola MichaelaJamieson Sarra ETiwary PujaSudharshan MedhaviMishra AnshumanOommen JoyceMehrotra SanjanaRani DeepaThangaraj KumarasamyRai MadhukarSundar ShyamBlackwell Jenefer M<p>Abstract</p> <p>Background</p> <p><it>SLC11A1 </it>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 <it>SLC11A1 </it>and VL in India.</p> <p>Methods</p> <p>Nine polymorphisms (rs34448891, rs7573065, rs2276631, rs3731865, rs17221959, rs2279015, rs17235409, rs17235416, rs17229009) that tag linkage disequilibrium blocks across <it>SLC11A1 </it>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 <it>SLC11A1 </it>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<sub>n </sub>polymorphism (rs34448891).</p> <p>Results</p> <p>No associations were observed between VL and polymorphisms at <it>SLC11A1 </it>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<sub>n </sub>repeat.</p> <p>Conclusions</p> <p>This is the first well-powered study of <it>SLC11A1 </it>as a candidate for VL, which we conclude does not have a major role in regulating VL susceptibility in India.</p>http://www.biomedcentral.com/1471-2350/12/71<it>SLC11A1</it>visceral leishmaniasisgenetic susceptibility |
| spellingShingle | Fakiola Michaela Jamieson Sarra E Tiwary Puja Sudharshan Medhavi Mishra Anshuman Oommen Joyce Mehrotra Sanjana Rani Deepa Thangaraj Kumarasamy Rai Madhukar Sundar Shyam Blackwell Jenefer M No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India BMC Medical Genetics <it>SLC11A1</it> visceral leishmaniasis genetic susceptibility |
| title | No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India |
| title_full | No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India |
| title_fullStr | No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India |
| title_full_unstemmed | No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India |
| title_short | No evidence for association between <it>SLC11A1 </it>and visceral leishmaniasis in India |
| title_sort | no evidence for association between it slc11a1 it and visceral leishmaniasis in india |
| topic | <it>SLC11A1</it> visceral leishmaniasis genetic susceptibility |
| url | http://www.biomedcentral.com/1471-2350/12/71 |
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