Occurrence of DAT1 (VNTR) Polymorphism in Individuals with HIV infection

Current Pharmacogenomics and Personalized Medicine ◽

10.2174/1875692118666210421104202 ◽

2021 ◽

Vol 18 ◽

Author(s):

HariOm Singh ◽

Sonam Lata

Keyword(s):

Hiv Infection ◽

Tandem Repeats ◽

Early Stage ◽

Variable Number ◽

Healthy Controls ◽

The People ◽

Immunodeficiency Virus ◽

Risk Of Progression ◽

The Central Nervous System ◽

Variable Number Tandem Repeats

Background: Antiretroviral treatment (ART) have been reported to make changes in the functioning of dopaminergic neurons by altering the expression of dopamine active transporter (DAT). ART containing efavirenz drug have been related to show the adverse reactions on the central nervous system (CNS). Reported literature indicates the correlation of DAT19/10 genotype with the risk of progression of human immunodeficiency virus (HIV) infection. Objective: To assess the polymorphism in the human gene DAT1 including variable number tandem repeats (VNTR) from individuals having an infection of HIV. Methods: Genotyping was completed by performing a polymerase chain reaction (PCR) in a total of 165 HIV positive patients on ART treatment (34 were HIV-infected patients with hepatotoxicity, 131 HIV-infected patients) and 160 healthy controls without HIV infection. Results: Incidence of DAT19/9, 8/9 genotypes, and allele with 9 repeats were higher in individuals having hepatotoxicity compared to those who do not have hepatotoxicity (5.9 vs. 0.8%, OR = 7.73; 2.9 vs. 0.8%, OR = 3.86; 20.58% vs. 14.12%, OR = 1.56). DAT19/10 genotype was related to severity of hepatotoxicity (OR = 1.86; P = 0.05). Upon comparison of genotype between individuals who do not have hepatotoxicity but having HIV infection and healthy controls without HIV infection, the dispersion of DAT1 10/11, 6/10 genotypes were greater in individuals with HIV infection (1.5% vs. 0.6%, OR = 2.73; 3.1% vs. 1.3%, OR = 2.73). DAT19/10 genotype was related to the people of advanced stage of HIV infection (OR = 2.05, P = 0.04). A higher incidence of DAT19/10 genotype was found in individuals with early stage of HIV infection than healthy controls (26.3 vs. 15.6%, OR = 1.93). In alcohol and tobacco consuming individuals with HIV infection and hepatotoxicity, DAT19/10 genotype has demonstrated hazard in the progression of HIV infection and increasing severity of hepatotoxic condition (OR = 1.40, P = 0.91, OR = 1.50; P = 0.91 and OR = 1.57, P = 0.39; OR = 2.70; P = 0.53). In patients with hepatotoxicity, nevirapine utilization with DAT19/10 genotype had demonstrated an increase in severity of hepatotoxicity (OR = 4.00, P = 0.41). In individuals with HIV infection and hepatotoxicity, alcohol and nevirapine usage along with DAT1 9/10 genotype have indicated a hazard for progression of HIV infection and increase in severity of hepatotoxicity (OR = 1.47, P = 0.85; OR = 1.73; P = 0.32). Conclusion: The genetic polymorphism with DAT19/10 genotype was linked with the progression of HIV infection and in the advancement of HIV-related illnesses.

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P-Selectin Glycoprotein Ligand-1 VNTR Polymorphisms in Systemic Sclerosis.

Blood ◽

10.1182/blood.v110.11.3914.3914 ◽

2007 ◽

Vol 110 (11) ◽

pp. 3914-3914

Author(s):

Ozer Taranoglu ◽

Veysel Hancer ◽

Mehmet Kalender ◽

Reyhan Diz-Kucukkaya ◽

Murat Inanc

Keyword(s):

Systemic Sclerosis ◽

Tandem Repeats ◽

Low Frequency ◽

Variable Number ◽

Control Group ◽

Healthy Controls ◽

Genotype Frequencies ◽

Pcr Method ◽

Variable Number Tandem Repeats ◽

Vntr Polymorphisms

Abstract Systemic sclerosis (SSc) is a systemic connective tissue disease characterized by excessive fibrosis, vascular injury, autoimmunity and inflammation. P-selectin glycoprotein ligand-1 (PSGL-1) expressed on leukocytes and microparticles derived from myeloid cells is major counter-receptor for P-selectin. P-selectin and PSGL-1 crosslinking mediates interaction among leukocytes, platelets and endothelial cells during thrombosis, inflammation, and angiogenesis.It has been postulated that the recently defined “variable number tandem repeats” (VNTR) polymorphisms of the mucin-like region of PSGL-1 might effect the adhesion function by changing the interaction between P-selectin and PSGL-1. We aimed to investigate the distribution of PSGL-1 VNTR polymorphisms in SSc and to compare with the healthy controls in order to study the role of these polymorphisms in the pathogenesis of SSc and its complications. One hundred and fourteen SSc patients (102 women, 12 men) who fulfilled 1980 ACR preliminary criteria and 203 unrelated healthy controls (98 women, 105 men) were studied. Demographic and clinical characteristics of the patients were recorded by using a standart form. The study was approved by the local ethical committee and subjects signed informed consent documents. PSGL-1 polymorphisms were determined with PCR method (1). 4 genotypes were identified after genotyping according to bands in gel electrophoresis (AA, AB, BB, AC). Cumulative frequencies of A, B and C alleles in SSc were 77.2%, 21.5% and 1.3%, respectively and 82.4%, 15.4% and 2.2% in the control group. The AA, AB, BB and AC genotype frequencies were 59.6%, 32.5%, 5.3% and 2.6% in SSc and 70%, 21.2%, 4.9% and 3.9% in control group. 37 of 114 SSc patients were carrying the AB genotype (32.5% vs 21.2%, OR=1.79, 95% CI 1.07–3.0, p=0.027). B allele carriers were 37.7% in SSc and 26.1% in control group (OR=1.71, 95% CI 1.04–2.80, p=0.031). When two major disease subsets were considered, AB genotype was found to be more frequent in patients with limited cutaneous involvement (lSSc) (34.8% vs 21.2%, OR=1.99, 95% CI 1.084–3.65, p=0.025). However, the frequency of AB genotype in diffuse systemic sclerosis (dSSc) was similar to that of control group (p=0.75). Similarly, B allele carriers were more frequent in lSSc (40.9% vs 26.1%, OR=1.96, 95% CI 1.1–3.5, p=0.022). When the clinical and laboratory characteristics of patients were taken into consideration, AB genotype was significantly less frequent in anti-Scl70 positive patients compared to anti-Scl70 negative patients (21.8% vs. 42.9%, OR=0.37, 95% CI 0.16–0.85, p=0.018). Likewise, B allele carriers were less frequent in anti-Scl70 positive patients (29.4% vs. 49.1%, OR=0.43, 95% CI 0.19–0.96, p=0.038). The AB genotype was increased in patients with arthritis compared to patients with no arthritis (77.8% vs. 28.3%, OR=8.87, 95% CI 1.73–45.35, p=0.002). PSGL-1 VNTR polymorphisms were distributed significantly different in SSc and healthy controls when clinical subsets of SSc were analysed seperately. The AB genotype and B allele were significantly more frequent in lSSc. This finding was also supported by the low frequency of AB genotype and B allele in anti-Scl70 positive patients, which is more common in dSSc. PSGL-1 VNTR polymorphisms might play a role in the pathogenesis of lSSc by modifying leukocyte, platelet and endothelial cell interactions. Further research is needed to confirm the relationship with AB genotype and arthritis in SSc patients.

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Molecular characteristics of Brucella melitensis isolates from humans in Qinghai Province, China

Infectious Diseases of Poverty ◽

10.1186/s40249-021-00829-0 ◽

2021 ◽

Vol 10 (1) ◽

Author(s):

Zhi-Jun Zhao ◽

Ji-Quan Li ◽

Li Ma ◽

Hong-Mei Xue ◽

Xu-Xin Yang ◽

...

Keyword(s):

Tandem Repeats ◽

Brucella Melitensis ◽

Draft Genome ◽

Geographic Origin ◽

Variable Number ◽

Human Brucellosis ◽

Molecular Characteristics ◽

Whole Genome ◽

Qinghai Province ◽

Variable Number Tandem Repeats

Abstract Background The prevalence of human brucellosis in Qinghai Province of China has been increasing rapidly, with confirmed cases distributed across 31 counties. However, the epidemiology of brucellosis transmission has not been fully elucidated. To characterize the infecting strains isolated from humans, multiple-locus variable-number tandem repeats analysis (MLVA) and whole-genome single-nucleotide polymorphism (SNP)-based approaches were employed. Methods Strains were isolated from two males blood cultures that were confirmed Brucella melitensis positive following biotyping and MLVA. Genomic DNA was extracted from these two strains, and whole-genome sequencing was performed. Next, SNP-based phylogenetic analysis was performed to compare the two strains to 94 B. melitensis strains (complete genome and draft genome) retrieved from online databases. Results The two Brucella isolates were identified as B. melitensis biovar 3 (QH2019001 and QH2019005) following conventional biotyping and were found to have differences in their variable number tandem repeats (VNTRs) using MLVA-16. Phylogenetic examination assigned the 96 strains to five genotype groups, with QH2019001 and QH2019005 assigned to the same group, but different subgroups. Moreover, the QH2019005 strain was assigned to a new subgenotype, IIj, within genotype II. These findings were then combined to determine the geographic origin of the two Brucella strains. Conclusions Utilizing a whole-genome SNP-based approach enabled differences between the two B. melitensis strains to be more clearly resolved, and facilitated the elucidation of their different evolutionary histories. This approach also revealed that QH2019005 is a member of a new subgenotype (IIj) with an ancient origin in the eastern Mediterranean Sea.

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Cryptococcal infection of the colon in a patient without concurrent human immunodeficiency infection: a case report and literature review

European Journal of Clinical Microbiology & Infectious Diseases ◽

10.1007/s10096-021-04268-5 ◽

2021 ◽

Author(s):

Alvaro Quincho-Lopez ◽

Noah Kojima ◽

John M. Nesemann ◽

Rogger Verona-Rubio ◽

Dina Carayhua-Perez

Keyword(s):

Human Immunodeficiency Virus ◽

Literature Review ◽

Hiv Infection ◽

Chronic Diarrhea ◽

Cryptococcal Infection ◽

Pulmonary System ◽

Immunodeficiency Virus ◽

The Central Nervous System ◽

Disseminated Disease ◽

Histopathology Examination

AbstractCryptococcosis is a fungal infection that is rarely reported in patients without human immunodeficiency virus (HIV) infection, especially when the central nervous system (CNS) or pulmonary system is not involved. We report a case of isolated colonic cryptococcosis without disseminated disease in a 64-year-old immunocompetent woman without HIV infection who presented with chronic diarrhea and no episodes of fever or weight loss. The diagnosis was based on histopathology examination. Furthermore, we performed a literature review showing that few reports have been published so far and in the case of colonic cryptococcal infection, the prognosis is favorable among HIV-uninfected patients.

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Slipped-Strand Mispairing at Noncontiguous Repeats in Poecilia reticulata: A Model for Minisatellite Birth

Genetics ◽

10.1093/genetics/155.3.1313 ◽

2000 ◽

Vol 155 (3) ◽

pp. 1313-1320 ◽

Cited By ~ 2

Author(s):

John S Taylor ◽

Felix Breden

Keyword(s):

Tandem Repeat ◽

Poecilia Reticulata ◽

Tandem Repeats ◽

Phylogenetic Reconstruction ◽

Variable Number ◽

Repeat Motif ◽

Raw Material ◽

Direct Repeats ◽

Mt Dna ◽

Variable Number Tandem Repeats

Abstract The standard slipped-strand mispairing (SSM) model for the formation of variable number tandem repeats (VNTRs) proposes that a few tandem repeats, produced by chance mutations, provide the “raw material” for VNTR expansion. However, this model is unlikely to explain the formation of VNTRs with long motifs (e.g., minisatellites), because the likelihood of a tandem repeat forming by chance decreases rapidly as the length of the repeat motif increases. Phylogenetic reconstruction of the birth of a mitochondrial (mt) DNA minisatellite in guppies suggests that VNTRs with long motifs can form as a consequence of SSM at noncontiguous repeats. VNTRs formed in this manner have motifs longer than the noncontiguous repeat originally formed by chance and are flanked by one unit of the original, noncontiguous repeat. SSM at noncontiguous repeats can therefore explain the birth of VNTRs with long motifs and the “imperfect” or “short direct” repeats frequently observed adjacent to both mtDNA and nuclear VNTRs.

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HIV infection and multiple sclerosis: a case with unexpected “no evidence of disease activity” status

Journal of International Medical Research ◽

10.1177/0300060521999577 ◽

2021 ◽

Vol 49 (3) ◽

pp. 030006052199957

Author(s):

Fernando Labella ◽

Fernando Acebrón ◽

María del Carmen Blanco-Valero ◽

Alba Rodrígez-Martín ◽

Ángela Monterde Ortega ◽

...

Keyword(s):

Multiple Sclerosis ◽

Hiv Infection ◽

Disease Activity ◽

Demyelinating Disease ◽

Clinical Course ◽

Disease Modifying Drugs ◽

Immunodeficiency Virus ◽

Relapsing Remitting ◽

The Central Nervous System ◽

Disease Modifying

Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system whose etiology remains unclear. It has been suggested that MS can be triggered by certain viruses; however, human immunodeficiency virus (HIV) infection is associated with reduced incidence of MS. We present the case of a young patient diagnosed with active relapsing-remitting MS whose clinical course substantially improved following HIV infection and treatment. The patient achieved no evidence of disease activity status without any disease-modifying drugs. Both HIV-induced immunosuppression and antiretroviral therapy may have attenuated the clinical course in this patient.

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