Identification of CCR5 Δ32 Allele in Different Ethnic Groups of Nepal

Shrestha, Dipendra; Shrestha, Rukesh; Sherchand, SP; Sherchan, Samendra P.; Hendriksen, RS; Bhatta-Sharma, L; Bhatta,

doi:10.3126/nmcj.v22i3.32643

Cited by 3 publications

(2 citation statements)

References 20 publications

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“…The allele frequency is very low or even absent in most Asian and African countries: for example, 0.4% in China, 2.2% in Korea, 0.7% in Cameroon, 0.26% in Eritrea, and 2.9% in Egypt (47). A recent study reports the absence of the CCR5D32 allele in the Nepalese population (48). Similarly, CCR5D32 is rare in Native American groups, showing an overall CCR5D32 allele frequency of 0.2%, mostly probably due to miscegenation (42).…”

Section: Pivotal Information Regarding the Ccr5d32 Variantmentioning

confidence: 99%

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

Kulmann-Leal

Ellwanger

2021

Front. Immunol.

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The genetic background of Brazilians encompasses Amerindian, African, and European components as a result of the colonization of an already Amerindian inhabited region by Europeans, associated to a massive influx of Africans. Other migratory flows introduced into the Brazilian population genetic components from Asia and the Middle East. Currently, Brazil has a highly admixed population and, therefore, the study of genetic factors in the context of health or disease in Brazil is a challenging and remarkably interesting subject. This phenomenon is exemplified by the genetic variant CCR5Δ32, a 32 base-pair deletion in the CCR5 gene. CCR5Δ32 originated in Europe, but the time of origin as well as the selective pressures that allowed the maintenance of this variant and the establishment of its current frequencies in the different human populations is still a field of debates. Due to its origin, the CCR5Δ32 allele frequency is high in European-derived populations (~10%) and low in Asian and African native human populations. In Brazil, the CCR5Δ32 allele frequency is intermediate (4-6%) and varies on the Brazilian States, depending on the migratory history of each region. CCR5 is a protein that regulates the activity of several immune cells, also acting as the main HIV-1 co-receptor. The CCR5 expression is influenced by CCR5Δ32 genotypes. No CCR5 expression is observed in CCR5Δ32 homozygous individuals. Thus, the CCR5Δ32 has particular effects on different diseases. At the population level, the effect that CCR5Δ32 has on European populations may be different than that observed in highly admixed populations. Besides less evident due to its low frequency in admixed groups, the effect of the CCR5Δ32 variant may be affected by other genetic traits. Understanding the effects of CCR5Δ32 on Brazilians is essential to predict the potential use of pharmacological CCR5 modulators in Brazil. Therefore, this study reviews the impacts of the CCR5Δ32 on the Brazilian population, considering infectious diseases, inflammatory conditions, and cancer. Finally, this article provides a general discussion concerning the impacts of a European-derived variant, the CCR5Δ32, on a highly admixed population.

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Section: Pivotal Information Regarding the Ccr5d32 Variantmentioning

confidence: 99%

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

Kulmann-Leal

Ellwanger

2021

Front. Immunol.

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“…Thalassemia consists of one of the most common chronic and genetic hematologic disorders, globally. There are approximately 240 billion people worldwide who are heterozygous for beta-thalassemia while approximately 200,000 affected homozygotes are born annually (Shrestha, 2023). Thalassemia is a major health problem not only for the patients and their families but also for the Public Health System of each country due to the cost of treatment involving regular transfusions, iron chelation, frequent hospitalization, and general medical follow-up.…”

Section: Theoretical Backgroundmentioning

confidence: 99%

Investigation of the Relationship between Thalassemia and Depression to Predict a Base for Rehabilitation Measures

Maryam,

Rahman,

Haider

2024

Journal of Disability Research

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This study examines the relationship between thalassemia, an inherited blood disorder, and depression, a psychologically debilitating illness. Thalassemia, which is characterized by insufficient hemoglobin production, significantly affects the quality of life and well-being of patients. As more effective treatment and even a cure for thalassemia have become possible, attention is being drawn to the assessment of depression, which is common among those affected. In addition to investigating the relationship between depression and thalassemia, this research also aims to provide a basis for patient rehabilitation. The study is conducted with a sample of 60 subjects consisting of thalassemia and non-thalassemia children aged 4 to 14 years from different areas of the province. The Beck Depression Inventory scale’s second revision has been used for this purpose. The results confirmed the hypothesis that there is a positive correlation between thalassemia and depression. Statistical analysis was performed using SPSS t-test and revealed a significant level of comorbidity with a calculated coefficient alpha of 0.768, mean of 41.40, standard deviation (SD) of 2.009, Cohen’s d of 0.188, and significance of 0.50. These results are consistent with the previous research conducted by the Iranshahr Institute (2014-2015) indicating a marked occurrence of depression in thalassemia patients. This research is needed overall to understand the relationship between mental health problems and thalassemia. However, the scope of the study is limited to a local hospital with challenges such as language barriers and cultural stigma. Despite these limitations, this study highlights the need for further research on depression in thalassemia patients and suggests avenues for future research and therapeutic rehabilitation interventions. In addition, this topic can be further researched, as diseases such as thalassemia pose great challenges in dealing with those affected. It can also help parents support the suffering child in coping with the psychological burden of the physical illness.

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Investigation of the CC chemokine receptor 5 (CCR5) delta32 and gene variants in HIV infected patients

Saddiqa,

Nadeem,

Javed

et al. 2023

Genetika

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CCR5 is an important CC chemokine receptor for the normal entry of Human Immunodeficiency Virus (HIV) in host cells. Mutations in this gene have been linked with delayed HIV infection, therefore, the current case-control study was conducted to identify genetic polymorphism in CCR5 gene in Pakistani population and to evaluate its association with resistance for HIV infections. All regulations of MOOSE and Helsinki Declaration were strictly followed during the entire study. DNA was extracted from the blood samples of HIV positive and HIV negative patients. Extracted DNA was amplified for CCR5 gene by PCR. Amplified product was sequenced to screen out polymorphism mutation, including most prevalent 32 base-pairs deletion through Bioedit. Novel SNP in 5?UTR region was identified and examined by CRYP-SKIP server. None of the studied samples demonstrated any previously reported polymorphisms. CRYP-SKYP server predicted that this polymorphism has no effect on splicing or transcription of CCR5 gene. Genetic Polymorphism of delta32 mutation in CCR5 gene was found in Pakistani individuals. To the best of our knowledge, this is the first report from this region. However, large scale studies should be conducted for extensive view of the association of delta32 mutation in CCR5 gene and resistance for HIV infection.

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Identification of CCR5 Δ32 Allele in Different Ethnic Groups of Nepal

Cited by 3 publications

References 20 publications

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

CCR5Δ32 in Brazil: Impacts of a European Genetic Variant on a Highly Admixed Population

Investigation of the Relationship between Thalassemia and Depression to Predict a Base for Rehabilitation Measures

Investigation of the CC chemokine receptor 5 (CCR5) delta32 and gene variants in HIV infected patients

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