CR1 levels and gene polymorphisms exhibit differential association with falciparum malaria in regions of varying disease endemicity

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

doi:10.1016/j.humimm.2009.02.001

Cited by 37 publications

(53 citation statements)

References 39 publications

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“…15 This allele has been associated with a multifold reduction of the level of CR1 in multiple studies of subjects with European ancestry, [15][16][17][18] and also in South Asian and East Asian population groups. 19,20 Previous studies in Europeans have also found that this haplotype also contains the rs3738467 T allele (Gln981His), an allele that is associated with decreased CR1 in European, East Asian and Papua New Guineans. 15,19,21 Other studies have also identified additional amino acid variants, including the Ile1574Val (rs669117 G allele), as part of this haplotype.…”

Section: Introductionmentioning

confidence: 97%

“…21,23 Importantly, the rs2274567 G allele that is within the dominant Sardinian haplotype has been found at much higher frequency in malaria endemic than in non-endemic regions of India. 20 Recently, Tham et al 14 have provided strong evidence that CR1 is the host erythrocyte receptor for the reticulocyte-binding-like homolog protein PfRh4, a major P. falciparum ligand that is essential for sialic-acidindependent invasion. Moreover, the exon 22 polymorphism (rs2274567 G allele) is associated with a decreased sialic-acid-independent malarial invasion of erythrocytes.…”

Section: Introductionmentioning

confidence: 99%

“…26,28 In India, within the nonendemic malaria region (in contrast to the association with susceptibility in endemic regions), the rs2274567 G allele is paradoxically associated with increased disease severity. 20 Part of this latter phenomenon was speculated to be because of the frequency of severe anemia that may be enhanced by low CR1 levels. In addition, the effects of multiple other genes identified or implicated in the susceptibility, resistance and pathogenesis of malaria will need to be considered in developing a comprehensive picture of pathogenesis.…”

Section: Introductionmentioning

confidence: 99%

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Evidence for malaria selection of a CR1 haplotype in Sardinia

et al. 2011

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Complement receptor 1 (CR1) levels have been associated with malarial susceptibility and/or severity of the disease in different population groups, and CR1 is a receptor for Plasmodium falciparum. In this study, multiple CR1 single-nucleotide polymorphisms (SNPs) showed strong evidence of population differentiation between Sardinian and other European ethnic groups. Cross population algorithms comparing haplotype structure and differences in haplotype and allele frequency distribution provided additional support for natural selection of CR1 in Sardinia. The predominant Sardinian CR1 haplotype included SNPs that are associated with decreased CR1 levels in Europeans and other population groups. Previous studies have shown that the SNPs within the dominant Sardinian haplotype have a significantly higher frequency in a malaria endemic compared with non-endemic regions in India. Together with the historical evidence of the prevalence of malaria in Sardinia, these data support the role of malaria leading to positive selection of this CR1 haplotype in Sardinia.

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Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Evidence for malaria selection of a CR1 haplotype in Sardinia

et al. 2011

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“…Another study (Cockburn et al 2004) in Caucasians provided evidence that heterozygotes for the CR1 low-expression allele (HL) are significantly protected from severe malaria, while homozygotes LL have reduced risk compared with HH homozygotes; however, this did not reach statistical significance. A recent study (Sinha et al 2009) analyzed CR1 polymorphisms in Indian populations living in endemic and non-endemic malaria areas. Results showed that of the three CR1 SNPs analyzed, only exon 22 and intron 27 SNPs were found to be associated with susceptibility to malaria.…”

Section: Malariamentioning

confidence: 99%

Complement polymorphisms: Geographical distribution and relevance to disease

et al. 2012

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“…The soluble form of CR1 differs from the surface form only in the cytoplasmic part of the protein at the C-terminus, removed through the proteolytic cleavage of the transmembrane protein [76]. Research has associated CR1 to a number of diseases such as autoimmune disorders [77], systemic lupus erythematosus [78][79][80][81], rheumatoid arthritis [81,82], malaria [83], atopic dermatitis [84], HIV infection [85]. Expression of CR1 has been shown to be regulated by cytokines and immune complexes in diseases (reviewed by Khera and Das, 2009 [73, 86]).…”

Section: Cr1mentioning

confidence: 99%

Genetic and Blood Biomarkers of Alzheimer`s Disease

Momeni¹,

Ferrari²

2010

TONMEDJ

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Alzheimer's disease (AD) is the most prevalent form of dementia. AD is highly heritable, with a complex pattern. Although clinical diagnosis is based on accurate and well defined diagnostic criteria (NINCDS-ADRDA), the definite diagnosis relies on the postmortem pathological findings. The need for measures for the early detection of AD, as well as the need to distinguish between AD and other forms of dementia, has put great emphasis on the discovery of biomarkers for Alzheimer's disease. In clinical practice, there is need for non-invasive, accurate methods for the early detection and differential diagnosis of AD. The successful identification and development of the biomarkers, depends completely on the understanding of pathology, genetic and molecular mechanisms involved in the disease. As blood is a circulating dynamic tissue and transcription reflects the ongoing changes in the system, it makes the transcriptional profiling of the blood cells, potentially, the most sensitive source for transcriptional biomarkers. A systematic comparison of the genetic and proteomic blood biomarkers in patients and healthy controls can reveal additional potential candidates for AD. In the first part of this review, we would like to discuss the most recent genetic findings and their possible involvement in the pathogenesis of AD. In the second part, we review the blood biomarkers which can be derived from peripheral blood mononuclear cells (PBMC), serum, and plasma. We discus three main category of bio-molecules, namely DNA, RNA (miRNA and mRNA), and protein as well as their possible role in the hypothetical mechanisms involved in pathogenesis of AD. A dynamic interaction between the genetic findings through the whole genome association studies and biomarkers discovery can advance our knowledge of AD pathogenesis beyond the scope of each field independently.

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CR1 levels and gene polymorphisms exhibit differential association with falciparum malaria in regions of varying disease endemicity

Cited by 37 publications

References 39 publications

Evidence for malaria selection of a CR1 haplotype in Sardinia

Evidence for malaria selection of a CR1 haplotype in Sardinia

Complement polymorphisms: Geographical distribution and relevance to disease

Genetic and Blood Biomarkers of Alzheimer`s Disease

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