scholarly journals The Relationship between insulin variable number of tandem repeats (INS-VNTR) -23 A/T and cytotoxic T-lymphocyte associated protein-4 (CTLA-4) +49 A/G polymorphisms with islet autoantibodies in persons with diabetes

2017 ◽  
Vol 31 (1) ◽  
pp. 484-491
Author(s):  
Mohammad Khoshroo ◽  
Mohammad Ebrahim Khamseh ◽  
Ali Akbar Amir Zargar ◽  
Mojtaba Malek ◽  
Reza Falak ◽  
...  
Keyword(s):  
T Lymphocyte ◽  
Tandem Repeats ◽  
Cytotoxic T Lymphocyte ◽  
Variable Number ◽  
Islet Autoantibodies ◽  
Ins Vntr ◽  
The Relationship

scholarly journals Polymorphism of Interleukin 1B May Modulate the Risk of Ischemic Stroke in Polish Patients

Medicina ◽  
2019 ◽  
Vol 55 (9) ◽  
pp. 558 ◽  
Author(s):  
Gorący ◽  
Kaczmarczyk ◽  
Ciechanowicz ◽  
Lewandowska ◽  
Jakubiszyn ◽  
...  
Keyword(s):  
Risk Factor ◽  
Ischemic Stroke ◽  
Tandem Repeats ◽  
Interleukin 1 ◽  
Variable Number ◽  
Control Group ◽  
Key Factors ◽  
Inflammatory Processes ◽  
Variable Number Tandem Repeats ◽  
The Relationship

Background and Objectives: Inflammation plays a crucial role in the pathophysiology of ischemic stroke (IS). Interleukin-1B and interleukin-1 receptor antagonists are key factors in inflammatory processes. Aims: The aims of our study were to evaluate the relationship between genetic variation in interleukin-1B (IL1B) rs1143627 and interleukin-1 receptor antagonist (IL1RN) variable-number-tandem-repeats (VNTR), and overall IS and subtype prevalence rates. Materials and Methods: The analysis included 147 hospitalized Polish patients with IS diagnosed using conventional criteria. The control group consisted of 119 healthy subjects. Genotypes were determined by polymerase chain reaction. Results: A significant association between rs1143627 and stroke was found. The -31C IL1B polymorphism showed an association with overall IS, OR = 2.30 (1.36–3.87) p = 0.020. An association was also detected for LVI (large vessel infarction) subtypes of stroke. After risk factor adjustment (age, diabetes mellitus, dyslipidemia), the C allele was found to be an independent risk factor for LVI, OR = 1.99 (1.05–3.79) p = 0.036. Significant association was not observed between IL1RN alleles and IS. Conclusions: Our results suggest that the C allele of IL1B rs1143627 may be associated with susceptibility to overall IS and LVI subtypes of stroke in the Polish population.

scholarly journals Global Database-Driven Assessment of HIV-1 Adaptation to the Immune Repertoires of Human Populations

2015 ◽  
Vol 89 (20) ◽  
pp. 10693-10695 ◽  
Author(s):  
Aram Karakas ◽  
Zabrina L. Brumme ◽  
Art F. Y. Poon
Keyword(s):  
T Lymphocyte ◽  
Cytotoxic T Lymphocyte ◽  
Human Leukocyte ◽  
Human Populations ◽  
Hla Alleles ◽  
Global Database ◽  
Leukocyte Antigen ◽  
Ctl Escape ◽  
The Relationship ◽  
Hiv 1

Associations between HIV-1 cytotoxic T lymphocyte (CTL) escape mutations and their restricting human leukocyte antigen (HLA) alleles imply that HIV could adapt to divergent HLA repertoires of human populations globally. Using publicly available databases, we examine the relationship between the frequencies of 19 experimentally validated CTL escape mutations in HIV-1 reverse transcriptase and their restricting HLA alleles in 59 countries. From these extensive data, we find evidence of differential HIV adaptations to human populations at only a limited number of the studied epitope sites.

scholarly journals A systematic review of the relationship between the distributions of aggrecan gene VNTR polymorphism and degenerative disc disease/osteoarthritis

2018 ◽  
Vol 7 (4) ◽  
pp. 308-317 ◽  
Author(s):  
L. Cong ◽  
G. Tu ◽  
D. Liang
Keyword(s):  
Systematic Review ◽  
Degenerative Disc Disease ◽  
Tandem Repeats ◽  
The Elderly ◽  
Variable Number ◽  
Current Data ◽  
Disc Disease ◽  
Degenerative Disc ◽  
Vntr Polymorphism ◽  
The Relationship

Objectives Degenerative disc disease (DDD) and osteoarthritis (OA) are relatively frequent causes of disability amongst the elderly; they constitute serious socioeconomic costs and significantly impair quality of life. Previous studies to date have found that aggrecan variable number of tandem repeats (VNTR) contributes both to DDD and OA. However, current data are not consistent across studies. The purpose of this study was to evaluate systematically the relationship between aggrecan VNTR, and DDD and/or OA. Methods This study used a highly sensitive search strategy to identify all published studies related to the relationship between aggrecan VNTR and both DDD and OA in multiple databases from January 1996 to December 2016. All identified studies were systematically evaluated using specific inclusion and exclusion criteria. Cochrane methodology was also applied to the results of this study. Results The final selection of seven studies was comprehensively evaluated and includes results for 2928 alleles. The most frequent allele among all the studies was allele 27. After comparing the distributions of each allele with others, statistically significant differences have been found in the distribution of the alleles by the two groups, with an over-representation of allele (A)21 (disease: 3.22%, control: 0.44%). Thus, carrying A21 increased the risk of DDD. Such an association was not found to be statistically significant when considering the risk of OA. Conclusions The findings suggest that VNTR A21 seems to be associated with higher risk to DDD, however, such an association may not be statistically significant regarding the risk of OA. Cite this article: L. Cong, G. Tu, D. Liang. A systematic review of the relationship between the distributions of aggrecan gene VNTR polymorphism and degenerative disc disease/osteoarthritis. Bone Joint Res 2018;7:308–317. DOI: 10.1302/2046-3758.74.BJR-2017-0207.R1

scholarly journals The genetic basis of polycystic ovary syndrome

2002 ◽  
pp. 717-725 ◽  
Author(s):  
N Xita ◽  
I Georgiou ◽  
A Tsatsoulis
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Genetic Basis ◽  
Tandem Repeats ◽  
Polycystic Ovary ◽  
Variable Number ◽  
Reproductive Age ◽  
Ovary Syndrome ◽  
Ins Vntr ◽  
Chain Cleavage ◽  
Hormone Biosynthesis

Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The disorder is characterized by clinical features of hyperandrogenism, menstrual irregularities and often central obesity and hyperinsulinaemia. PCOS may increase the risk for infertility, type 2 diabetes mellitus, dyslipidaemia, cardiovascular disease and endometrial cancer, emphasizing the need for early diagnosis of the syndrome. The genetic basis of PCOS is unknown. There is a strong familial component but the mode of inheritance is uncertain and several candidate genes have been proposed to contribute to susceptibility. Not only genes involved in steroid hormone biosynthesis have been studied but also genes associated with the regulation of insulin secretion and action since hyperinsulinaemia is a characteristic of PCOS. So far there is evidence that INS VNTR (insulin variable number of tandem repeats) or CYP11alpha (cholesterol side chain cleavage) genes are associated with this syndrome. PCOS appears, however, to be an oligogenic disorder and more studies are necessary to define the genetic basis.

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