Variations in host genes encoding adhesion molecules and susceptibility to falciparum malaria in India

Sinha, Swapnil; Qidwai, Tabish; Kanchan, Kanika; Anand, Prerna; Jha, Ganga Nath; Pati, Sudhanshu S.; Mohanty, Sanjib; Mishra, Saroj K.; Tyagi, P. K.; Sharma, Surya K.; Venkatesh, Vimala; Habib, Saman

doi:10.1186/1475-2875-7-250

Cited by 43 publications

(31 citation statements)

References 45 publications

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“…Since there is no information available in the context of THBS1 polymorphisms and their association with malaria, we selected SNPs from the entire gene depending upon their reported frequency in IGVC panel II [4,25] and other Asian populations. Five THBS SNPs (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) with a mean MAF >20 % in IGVC panel II and Han Chinese and Japanese populations were genotyped.…”

Section: Resultsmentioning

confidence: 99%

“…The case-control panel comprised existing patient and control samples collected from a P. falciparum hyper-to mesoendemic region (Antagarh, Chhattisgarh and Sundargarh, Orissa) and a non-endemic region (Lucknow and surrounding areas of Uttar Pradesh) of India, as described previously [4,25,27]. The control panel comprised individuals ethnically matched with the patient group; these belonged to the Bhumij, Munda, Oraon, and Gond tribal populations in the endemic region and the Aggarwal, Brahmin, Kayastha, Pasi, Thakur, Yadav, Shia, and Sunni caste and religious groups in the nonendemic region.…”

Section: Populations and Study Subjectsmentioning

confidence: 99%

“…The IGVC sample set had been genotyped by Sequenom mass spectroscopy [4]. Genotyping of DNA samples from the blood of patients and controls was done by either the Illumina-based genotyping platform or SNaPshot analysis (Applied Biosystems) on an ABI 3130xl automated DNA analyzer.…”

Section: Genotypingmentioning

confidence: 99%

“…Genetic variations in genes encoding immune regulatory molecules influence disease outcome and severity of malaria [3]. Additionally, polymorphisms in genes encoding adhesion molecules ICAM-1, PECAM-1, CD36, and the Brosetting^factor CR1 have shown differential patterns of susceptibility/ resistance to malaria in world populations [3,4].…”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India

Kanchan

Pati

Mohanty

et al. 2015

Eur J Clin Microbiol Infect Dis

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Cytoadherence of Plasmodium falciparum-infected red blood cells (RBCs) in host microvasculature and complex regulation of the immune response are important contributors to the clinical outcome of disease. We tested the association of 23 single nucleotide polymorphisms (SNPs) and a microsatellite repeat in adhesion molecule genes THBS1 and ESEL, and immune regulatory molecule genes NOSII, CRP, and MBL2 with falciparum malaria in populations residing in a malaria-endemic and a non-endemic region of India. The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. In the non-endemic region, an ESEL 3'UTR SNP (rs5359) associated with enhanced risk of disease (OR = 3.62, p = 1 × 10(-4)) and the CT genotype of the CRP promoter SNP (C/T/A) strongly associated with protection (severe vs. control, OR = 0.29, p = 6 × 10(-5)). Long repeat alleles of the NOSII promoter microsatellite (CCTTT)n exhibited strong association with protection and the NOSII ATG haplotype (rs3729508, rs2297520, rs9282801) was strongly protective against severe malaria in both regions (endemic, severe vs. control, OR = 0.05, p = 0.0001; non-endemic, severe vs. control, OR = 0.3, p = 1 × 10(-5)). Our results suggest differential contribution of variants of the investigated genes in determining the outcome of malaria in Indian populations.

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Section: Resultsmentioning

confidence: 99%

Section: Populations and Study Subjectsmentioning

confidence: 99%

Section: Genotypingmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India

Kanchan

Pati

Mohanty

et al. 2015

Eur J Clin Microbiol Infect Dis

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“…7,9,36 Genetic variations, notably single nucleotide polymorphism (SNPs) within genes encoding innate immune factors including cytokines, their receptors, as well as immunemodulatory molecules, are implicated in/resistance to malaria parasites. 10,11,32 This may explain in part why some patients naturally clear infections while others do not. In a mouse model of malaria Mohan et al, administered a combination of the pleiotropic cytokine …”

mentioning

confidence: 99%

Host candidate gene polymorphisms and associated clearance ofP. falciparumamodiaquine and fansidar resistance mutants in children less than 5 years in Cameroon

Ali

Evehe

Netongo

et al. 2014

Pathogens and Global Health

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Background: In this post-hoc analysis, we determined the influence of single nucleotide polymorphisms in host candidate immune genes on the outcome of drug resistant malaria in Cameroon. Methods: Human DNA from 760 patients from a previous clinical trial was subjected to mass spectrometrybased single nucleotide polymorphism (SNP) genotyping. Allele frequencies of candidate immune genes were calculated for 62 SNPs on 17 human chromosomes for their possible involvement in clearance of drug-resistant parasites with the triple mutations of pfcrt76T, pfmdr86Y, and pfmdr1246Y (TY) and pfdhfr51I, pfdhfr59R, pfdhfr108N, and pfdhps437G (IRNG) which were determined by dotblot or PCRrestriction analysis. Differences in SNP frequencies and association analysis were carried out by comparing Chi-square odds ratios (ORs) and stratified by Mantel-Haenzel statistics. An adjusted P value (OR) ,0.0008 was considered significant. Results: Post-treatment drug failure rates were amodiaquine (36.4%); sulpadoxine/pyrimethamineamodiaquine combination (

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Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India

et al. 2020

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There have been concerted efforts toward cataloging rare and deleterious variants in different world populations using high-throughput genotyping and sequencingbased methods. The Indian population is underrepresented or its information with respect to clinically relevant variants is sparse in public data sets. The aim of this study was to estimate the burden of monogenic disease-causing variants in Indian populations. Toward this, we have assessed the frequency profile of monogenic phenotype-associated ClinVar variants. The study utilized a genotype data set (global screening array, Illumina) from 2795 individuals (multiple in-house genomics cohorts) representing diverse ethnic and geographically distinct Indian populations. Of the analyzed variants from Global Screening Array,~9% were found to be informative and were either not known earlier or underrepresented in public databases in terms of their frequencies. These variants were linked to disorders, namely inborn errors of metabolism, monogenic diabetes, hereditary cancers, and various other hereditary conditions. We have also shown that our study cohort is genetically a better representative of the Indian population than its representation in the 1000 Genome Project (South Asians). We have created a database, ClinIndb, linked to the Leiden Open Variation Database, to help clinicians and researchers in diagnosis, counseling, and development of appropriate genetic screening tools relevant to the Indian populations and Indians living abroad.

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Variations in host genes encoding adhesion molecules and susceptibility to falciparum malaria in India

Cited by 43 publications

References 45 publications

Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India

Polymorphisms in host genes encoding NOSII, C-reactive protein, and adhesion molecules thrombospondin and E-selectin are risk factors for Plasmodium falciparum malaria in India

Host candidate gene polymorphisms and associated clearance ofP. falciparumamodiaquine and fansidar resistance mutants in children less than 5 years in Cameroon

Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India

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