AA Genotype Research Articles

Associations of the Expression Levels and Risk Variants of CDKN2B-AS1 Long Noncoding RNA With the Susceptibility and Progression of Prostate Cancer.

Genetic variants of deregulated long noncoding RNAs (lncRNAs) have been implicated in tumorigenesis, cancer progression and cancer recurrence. Single-nucleotide polymorphisms (SNPs) of the lncRNA cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) have been associated with the risk and progression of various cancers; however, their role in prostate cancer (PCa) remains underexplored. In this case-control study, we investigated the associations of CDKN2B-AS1 expression levels and variants with PCa risk and progression. For this, five SNPs of CDKN2B-AS1-rs564398, rs1333048, rs1537373, rs2151280 and rs8181047-were genotyped using a TaqMan allelic discrimination assay; data were collected from 695 patients with PCa and 695 healthy controls. Our findings revealed that, under a dominant model, patients with PCa carrying at least one minor C allele of rs1333048 exhibited an increased risk of developing tumours with high Gleason grades; this risk was particularly high in patients without biochemical recurrence. Data from the Genotype-Tissue Expression database indicated upregulated CDKN2B-AS1 expression in the prostates of individuals carrying the polymorphic C allele of rs1333048. Genotype screening of rs1333048 in PCa cell lines showed that cells with at least one minor C allele had higher CDKN2B-AS1 levels than those with the AA genotype. Furthermore, data from The Cancer Genome Atlas indicated that higher CDKN2B-AS1 levels in PCa tissues were correlated with larger tumour sizes (T3 + T4), more lymph node metastasis (N1), higher Gleason scores and shorter progression-free survival. In conclusion, the polymorphic variants of CDKN2B-AS1 at rs1333048 may modulate CDKN2B-AS1 expression, thus accelerating PCa progression.

Genetic Polymorphism of Interferon-Gamma +874T/A as a Risk Factor for Pulmonary Tuberculosis in Cirebon, Indonesia

Background: Tuberculosis (TB) is one of the leading causes of death globally, caused by Mycobacterium tuberculosis. With 10% of all cases worldwide in 2022, Indonesia is the second-largest contributor of tuberculosis cases. IFN-γ gene polymorphism is one of the factors that have been studied extensively for its association with TB. Aims: To analyze IFN-γ +874T/A gene polymorphism as a risk factor for pulmonary tuberculosis in Cirebon. Methods: Observational analysis with case control design was used in this study. Thirty-two tuberculosis patients as cases and 32 healthy controls at RSUD Waled were collected and performed DNA extraction to evaluate the polymorphism by using Amplification-refractory mutation system–polymerase chain reaction (ARMS–PCR). Statistical comparison was performed by using Pearson Chi-square and Kruskal Wallis test. Mann-Whitney U test was done for post hoc test. Odds ratio was calculated to see the risk of the assessed variables, including genotype, allele frequency, and the presence of polymorphism. Results: In the case group, the frequency of TT genotype was 3 (9.4%), TA genotype was 26 (81.3%), AA genotype was 3 (9.4%). In the control group, the frequency of TT genotype was 12 (37.5%), TA genotype was 17 (53.1%), AA genotype was 3 (9.4%). A significant difference (p=0.034) was found among 3 genotype groups. Post hoc test revealed that TT and TA was the pair with significant difference (p=0.007). In addition, TA polymorphism was significantly associated (p=0.004) with tuberculosis (OR=6.614; CI95% = 1.660-26.349). Conclusion: IFN-γ +874 TA gene polymorphism is associated with pulmonary tuberculosis in the population of Cirebon, West Java, Indonesia. Received: 25 September 2024 | Reviewed: 23 October 2024 | Revised: 10 November 2024 | Accepted: 30 November 2024

Higher relapse and worse overall survival in recipients with CTLA-4 AA genotype of rs231775 following single-unit cord blood transplantation in adults

We retrospectively investigated the impact of CTLA-4 polymorphism on outcomes for adult patients who received single-unit cord blood transplantation (CBT) at our institution. CTLA-4 genotyping was performed using real-time polymerase chain reaction with the TaqMan® SNP genotyping assay for rs231775. This study included 143 recipient–donor pairs. The multivariate analysis showed that recipient rs231775 AA was associated with worse overall survival (OS) (hazard ratio [HR], 2.92; p = 0.008) and a higher relapse rate (HR, 4.79; p = 0.002), but donor rs231775 was not. The rs231775 polymorphism in recipients and donors did not affect non-relapse mortality, hematopoietic recovery, or acute and chronic graft-versus-host disease. The beneficial effects of rs231775 GG+GA recipients on OS and relapse were notable in subgroups of patients with high-risk disease status and those with myeloid diseases. The polymorphism of CTLA-4 rs231775in recipients might be associated with the clinical outcomes of single-unit CBT.

Genetic Association Between Single Nucleotide Polymorphisms of the HLA-G Gene and Papillary Thyroid Carcinoma in Iraqi Patients

This study was designed to investigate the relationship between HLA-G gene SNPs in exons 2 and 8 and papillary thyroid carcinoma (PTC). Blood samples from 100 patients, categorized into pre- and post-radioactive therapy groups, and 50 healthy subjects were analyzed via PCR and direct sequencing for allele and genotype frequencies. PTC was eight times more prevalent in women. Thyroid assessment hormones exhibited reduced T3 levels pre- and post-radioactive iodine therapy and increased T4 levels post-therapy (49.80 ng/ml vs. control 16.84 ng/ml). Notably, TSH levels significantly decreased before and after therapy in PTC patients versus controls (P = 0.005). HLA-G gene SNPs were linked to PTC risk: in exon 2, genotype AA posed risk (OR = 16.10 and 10.58; P = 0.001) pre- and post-therapy, while homozygous TT in exon 8 increased risk (OR = 7.30; P = 0.001; OR = 4.41; P = 0.018), and heterozygous CT was protective (OR = 0.27; P = 0.016) before therapy. These findings suggest homozygous SNPs contribute to the genetic risk factors for PTC in the Iraqi population.

An Association between Bilirubin and Diabetic Retinopathy in Patients with Type 2 Diabetes Mellitus: An Effect Modification by Nrf2 Polymorphisms

Background: Diabetic retinopathy (DR) is a persistent microvascular complication associated with diabetes, and it constitutes a significant cause of visual impairment and blindness. Aims: This study aimed to assess the correlation between serum bilirubin levels and the prevalence of DR in patients diagnosed with type 2 diabetes mellitus (T2DM). Additionally, we sought to establish whether the polymorphisms of Nuclear Factor E2-Related Factor 2 (Nrf2) might modify this relationship. Methods: A cross-sectional study was undertaken in Jiangxi, China, from May, 2012 to December, 2014. Serum bilirubin levels were assessed in 558 subjects, and the correlation between bilirubin and DR was analyzed using generalized linear models with a logit link. The study utilized odds ratios (OR) and 95% confidence intervals (CI) to evaluate the relationship, both with and without the consideration of clinical risk factors. Results: There was a significant inverse association between serum total bilirubin (TBiL) and the risk of DR (per 1-μmol/L increment; OR, 0.89; 95% CI: 0.84-0.94). Accordingly, when TBiL was categorized into tertiles, individuals in tertiles 2 and 3 exhibited significantly lower risks of DR compared to those in tertile 1. The OR for these tertiles was 0.54 (95% CI: 0.34-0.87) and 0.31 (95% CI: 0.19-0.52), respectively. Moreover, a stronger inverse relationship between TBiL and DR was observed in individuals carrying the CC and AC genotypes compared to those with the AA genotype. The OR for individuals with the CC/AC genotype was 0.87 (95% CI: 0.82, 0.92), while that for the AA genotype was 1.17 (95% CI: 0.95, 1.45). This difference was statistically significant (p for interaction = 0.001). Conclusion: There was a significant inverse association between bilirubin and DR in participants with CC or AC genotype. However, this inverse association was not seen in AA genotype participants.

Association of Variants in IL-1RN (rs2234663) and IL-1β (rs1143627, rs16944) and Interleukin-1β Levels with Colorectal Cancer: Experimental Study and In Silico Analysis

Background/Objectives. Colorectal cancer (CRC) is a multifactorial disease where the inflammatory state is crucial. This study analyzes the association of the IL-1RN (rs2234663) and IL-1β (rs1143627, rs16944) variants and IL-1β levels with CRC. Methods. This study included 230 CRC patients and 256 controls. Genotypes were determined by PCR and plasma IL-1β levels by ELISA. RegulomeDB analyzed the variants’ functional impacts, while OncoDB assessed IL-1β and IL-1RN expression’s influence on CRC. Results. The A1A1 genotype and dominant pattern of the rs2234663 variant were risk factors for CRC, whereas the A1A2 genotype showed a protective effect. The TC genotype of the rs1143627 variant and the T allele of rs16944 were associated with increased risk, whereas the C allele had a protective effect. The A1A1 genotype was associated with stage I–II CRC diagnosis, while the A2A2 genotype was associated with stage III–IV and ethanol consumption. The CC genotype of rs1143627 was associated with people younger than 50 years and tobacco use, and the TCCC genotype was related to stage III–IV stages and metastasis and hemorrhoids (p < 0.05). IL-1β levels were not associated with CRC. In silico analysis revealed that the variants are in located in important regions regulatory of genes. Elevated IL-1B and IL-1RN mRNA levels were found in CRC, linked to clinicopathological features of the disease. Conclusions. The analyzed variants are associated with CRC and may influence gene regulation by being located at critical sites of key genetic regulators.

Deviant Peer Affiliation, Depression, and Adolescent Non-Suicidal Self-Injury: The Moderating Effect of the OXTR Gene rs53576 Polymorphism

Background: Adolescent non-suicidal self-injury (NSSI) has emerged as a progressively widespread and significant public health concern on a global scale. Research has increasingly documented a positive linkage between deviant peer affiliation and adolescent NSSI; however, there is little known about the underlying moderating or mediating mechanism of NSSI. According to the gene × environment interaction perspective, the current study investigated the intermediary function of depression in linking deviant peer affiliation to NSSI among adolescents, while also considering the moderating effect of the OXTR gene rs53576 polymorphism on this intermediary process. Methods: A total of 469 adolescents (Meanage = 12.81 years; SD = 0.47 years) anonymously finished the study questionnaires. This study used structural equation modeling analysis to verify a moderated mediation model. Gender, age, and family financial difficulties were used as covariates. Results: Mediation analyses suggested that the positive connection between deviant peer affiliation and adolescent NSSI was mediated by depression. Moreover, the moderated mediation analyses revealed that deviant peer affiliation increased depression levels, which in turn contributed to increased NSSI among adolescents with the AA genotype. Nevertheless, the correlation failed to reach statistical significance among adolescents possessing the GA and GG genotypes. Conclusions: These findings emphasize depression’s potential as a bridge linking deviant peer affiliation to adolescent NSSI. The AA genotype of the OXTR gene rs53576 emerges as a critical risk factor in the enhancement of this indirect effect. This study provides valuable perspectives for designing intervention strategies aimed at reducing adolescent NSSI.

Correlation of the DRD2 gene polymorphism with psychopathology and predictive antimanic responses in patients with bipolar mania

To explore the correlation of the DRD2 gene polymorphism with psychopathology and predict responses in patients with mania treated with lithium and olanzapine. Sixty patients with bipolar mania were treated with lithium combined with olanzapine for 8 weeks and assessed using YMRS, HAMD, and HAMA. The DRD2 gene polymorphism rs1800497 was tested. Eleven (24.4%) manic patients achieved an early effective response according to the reduction of the YMRS score of >20% in the 2nd week, with a lower HAMA score than the no early effective response group. Twenty-three (51.1%) manic patients achieved remission according to the reduction of the YMRS score of >75% at the 8th week with a higher dose of lithium at the 8th weekend (g/day) than in the no-remission group. Manic patients with genotype GG had lower YMRS scores and lower doses and serum concentrations of olanzapine than patients with genotype AA + AG from the 4th week to the 8th week. Manic patients with genotype GG had a higher relative change in the YMRS score than those with genotype AA + AG from the 2nd week to the 8th week. No differences in HAMA or HAMD were found between the groups with genotype GG and AA + AG. There were more patients who achieved an early effective response in the 2nd week and remission in the 8th in those with genotype GG compared to those with genotype AA + AG. Manic patients with genotype GG had a greater improvement in the YMRS score due to a greater early effective response and remission, which was not related to higher doses and serum concentrations of olanzapine and lithium.

The functional TNF-α-308G > a single-nucleotide polymorphism (rs1800629): association with the predictive indices of breast cancer carcinogenesis.

Compared with all other cancer types, Breast cancer (BC) among women has now exceeded them all as the primary reason for cancer worldwide. The BC represents 11.7% of all cancer cases and accounts for a predestined 2.3 million new cases. It is the fourth primary reason for cancer-associated deaths in women. With a staggering 200-400% increase in the relative incidence of BC in Egypt, there is an urgent need for new diagnostic or predictive markers. The current investigation aims to explore the connection of the functional TNF-α-308G > A (rs1800629) single-nucleotide polymorphism (SNP) with different breast cancer predictive indices. The ARMS-PCR method was used for genotyping TNF-α-308G > A SNP. Three groups were recruited for the study: 79 patients with benign breast inflammation (BBI); 163 with breast cancer (BC) and 144 controls (C). The TNF-α-308G > A SNP was distributed among different groups in a unique pattern; in the control group 63.9% of cases were in the GG, 34% were in the GA, and 2.1% were in the AA. The BC group had 14% GG, 79% GA, and 7% AA, while the BBI group had 24% GG, 76% GA, and 0% AA. The AA genotype and A allele represented a strong significant correlation with risk factors in the BC group (ORAA: 14.67 [95% CI = 3.78-56.91] and ORA: 0.27 [95% CI = 0.19-0.39], respectively; P < 0.0001) in contrast to the control group. However, in the BBI group, a strong significant correlation was noted with the GA genotype (ORGA: 5.93 [95% CI = 3.18-11.04] P < 0.0001). In the BC group, the AA genotype shows a significant increase in Nottingham Prognostic Index (NPI) in positive ER and PR in contrast to the relevant negative ones (P = 0.02 and 0.002, respectively). However, the GA genotype significantly increased NPI in positive Her2 and metastatic patients (P = 0.03 and 0.01, respectively). This research is the first to correlate TNF-α-308G > A (rs1800629) SNP in Egyptian BC patients. The A allele, GA & AA genotypes, and the Overdominant model of the TNF-α-308G > A gene variants were recorded as prognostic risk factors for BC carcinogenesis.

Association between TERT gene polymorphisms (rs2736100 and rs2736109) and breast cancer risk in the Iranian population: A case-control study

BackgroundThe level of hormones and genetic predispositions increase the risk of breast cancer. Genetic variations in the genes of the telomere pathway, which can influence the activity of telomerase, may be decisive for the development of breast cancer. Due to a lack of studies on TERT gene polymorphisms (rs2736100 and rs2736109) in the Iranian population, in this study we investigated the association of these polymorphisms with breast cancer in the Iranian population. Patients & methodsA total of 300 individuals participated in this research, which included 150 breast cancer patients and 150 healthy controls. Participants' blood samples were collected before the beginning of treatment. The RFLP-PCR procedure was used for the genotyping of TERT gene rs2736109 and rs2736100 polymorphisms. ResultsThere are statistically significant differences in the age of menarche and the age of menopause (P-value <0.05). For rs2736100, the frequency of TT genotype in the case and control groups was 22.7 % and 16.7 %, respectively. However, these differences were not statistically significant (P-value >0.05). For rs2736109, the frequency of the AA genotype was lower in the case group (12.0 % vs. 19.3 %). These differences reach a statistically significant level (P-value = 0.012). Individuals carrying AA genotype have a lower risk of suffering from breast cancer (odds ratio = 0.403, 95 % CI: 0.196–0.827). ConclusionOur findings suggest that the rs27326109 polymorphism in the TERT gene is associated with a decreased risk of breast cancer. Also this study reveals that age of menarche and age of menopause are associated with risk of this disease.

New atherosclerosis progression markers in patients with post-Chernobyl metabolic syndrome

Relevance. As an epidemiologically proven consequence of the Chernobyl NPP accident, circulatory diseases are among the leading morbidities in liquidators. To predict the development of adverse cardiovascular events in patients with metabolic syndrome, there is the ongoing search for informative laboratory markers.The objective is to show how osteopontin, osteoprotegerin, fetuin-A, and risk factors for genetic circulatory disorders are associated with traditional risk factors for circulatory disorders in Chernobyl nuclear power plant accident liquidators suffering metabolic syndrome. Another objective is to explore the perspectives to use these indicators to forecast coronary atherosclerosis progression.Methods. The study group included 50 male liquidators of the Chernobyl nuclear power plant accident who suffered metabolic syndrome. The patients were split in two groups depending on osteopontin concentration in blood serum, i.e. above or under the upper reference limit. Medical history data, biochemical parameters, including inflammatory proteins, osteoprotegerin, fetuin-A, and genotyping of polymorphic variants of genes associated with the risk of circulatory diseases were analyzed. A control group of 30 conditionally healthy men was formed to determine the normal osteopontin, osteoprotegerin and fetuin-A values in blood serum.Results and discussion. With osteopontin value exceeding 21.4 ng/mL, the liquidators’ medical history showed 1.5 times higher frequency of myocardial infarction, 2.5 times higher frequent history of acute cerebral circulation disorder; ischemic heart disease was associated with type 2 diabetes mellitus. It was shown that the group of liquidators (osteopontin over 21.4 ng/ml) was characterized by a reliable increase in atherogenicity coefficient and osteoprotegerin level. Meanwhile, when compared to the control group, the same group of patients showed lower fetuin-A values and elevated high-sensitivity C-reactive protein, homocysteine, leptin and ghrelin. It was found that in liquidators, the presence of the A allele in the vitamin B12-dependent methionine synthase (MTR) gene (2756 A&gt;G) is associated with more pronounced biochemical markers of atherosclerosis progression compared to GG genotype carriers.Conclusion. Osteopontin performs a protective role in tissue damage, being is practically undetectable in normal conditions. However, in case of pathology its value increases dramatically. In patients with metabolic syndrome, decreased fetuin-A and osteopontin values exceeding 21.4 ng/mL require additional examination with a focus on cardiovascular pathology (coronary artery calcinosis), as well as a dual-energy X-ray absorptiometry to ensure early detection of diminished bone mineral density and body mass. It was found that in liquidators, the presence of A-allele (genotypes AA and AG) in the MTR 2756 A&gt;G gene is characterized by deeper atherogenic changes in the lipid spectrum, increased atherogenicity coefficient and decreased adiponectin content. This justifies the need for genotyping to build individual forecast for atherosclerosis progression in this category of patients.

THE RELATIONSHIP BETWEEN POLYMORPHISM 1357 G → A OF THE CNTF GENE AND GLY482SER OF THE PPARGC1A GENE WITH MUSCLE STRENGTH

Muscle strength is the process of energy synthesis during certain tasks in muscle fibers. In modern sports and sports medicine, exploring methods to enhance muscle strength through targeted exercises and training programs is a key area of focus. While many athletes can achieve the physical conditioning necessary for competitive performance, the role of genetics in sports has gained attention as it offers insights for optimizing training strategies and enhancing performance based on individual genetic profiles. Among the well-researched genes in muscle strength studies are the ciliary neurotrophic factor gene (CNTF) and the peroxisome proliferator-activated receptor gamma coactivator 1-alpha gene (PPARGC1A). This study investigates the relationship between polymorphisms in these genes and the function of motor units in muscle fibers. The aim of the study is to analyze and explain the mechanisms by which polymorphisms in the CNTF and PPARGC1A genes influence muscle strength. Materials and Methods. Following PRISMA guidelines, a comprehensive literature review was conducted using relevant keywords across leading scientometric databases. Results and Discussion. This article explores the relationship between genetic variants of the CNTF and PPARGC1A genes and muscle strength in adults. Specifically, it examines the impact of the CNTF 1357 G→A and PPARGC1A Gly482Ser polymorphisms on muscle strength gains in response to strength training. The study results indicate that these genetic variations significantly affect individual differences in response to exercise. Notable fluctuations in strength gains and changes in maximal voluntary contraction were observed. The data underscore the need for further research to deepen our understanding of how the CNTF and PPARGC1A genes influence muscle adaptation to training, as well as to assess their roles across different populations and training conditions. It has been found out that the AA genotype of the 1357 G→A variation leads to a functionally inactive neurotrophic factor protein, thereby significantly diminishing its myotrophic effect on skeletal muscles. Regarding the Gly482Ser polymorphism, homozygosity for the T allele is associated with reduced skeletal muscle metabolism and decreased oxidative activity. Conclusions. The results obtained can be applied for developing personalized training programs and improving practice of sports medicine and rehabilitation, thus facilitating the more effective achievement of individual fitness and health goals.

The effect of the TNFα gene rs1800629 polymorphism on cytokine profile parameters in the complicated wound healing in combat trauma victims

Background. In the wound process, there is a high probability of complications in the form paratraumatic eczema (РТЕ), which determines the severity the course of wound repair. Genetic factors responsible for the regulation of cytokines a leading role in the etiopathogenesis of РТЕ. Aim — determine the relationship of TNFa gene rs1800629 with the development of РТЕ and IL-1ß, TNFα, IL-6. Materials and methods. The study included 162 patients after surgical interventions. Group I — 82 people with complications in the form PTE and II — 80 people without complications. The study rs1800629 TNFα gene was carried out by the poly- merase chain reaction method. The levels TNFα, IL-1β and IL-6 in the blood was determined by the enzyme immunoassay method. Results. A connection with PTE was established with of rs1800629 gene TNFα (p = 0.033 and p = 0.005). The genotypes GA (OR = 1.64; CI 0.83–3.24) and AA (OR = 2.94; CI 0.9–9.67), allele A (OR = 2.13; CI 1.26–3.6) rs1800629 influenced the increased chances of developing PTE. In group II the IL- 1β, TNFα, IL-6 indicators were increased (p &lt; 0.001) in carriers of the AA genotype rs1800629. Conclusion. rs1800629 TNFα gene is associated with development of PTE. An increase in the levels IL-1β, TNFα, IL-6 was associated with the presence of a pathogenetic factor — AA genotype rs1800629 TNFα gene in development of complications.

Pediatric pharmacogenetics: profiling CYP2C8 polymorphisms at King Abdulaziz University Dental Clinic.

Ibuprofen, a widely used non-steroidal anti-inflammatory (NSAID) for managing pain and inflammation in pediatric patients, is metabolized by the CYP2C8 enzyme. Studies suggest that the CYP2C8*2, *3, and *4 variations of the CYP2C8 gene diminish ibuprofen metabolism, increasing the risk of adverse reactions. The aim of this study was to determine the frequency of the CYP2C8*2, *3, and *4 alleles and genotypes in a pediatric population attending the King Abdulaziz University dental clinic and compare our findings to those of other populations. A cross-sectional study was conducted with 140 healthy Saudi children ages 6-12. Saliva samples were collected using Oragene™ DNA Sample Collection Kits and analyzed for polymorphisms using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The study identified that CYP2C8*2 AA, AT, and TT genotypes occurred at frequencies of 87.86 %, 9.29 %, and 2.86 %, respectively. For CYP2C8*3, AA, AG, and GG genotypes were found in 87.14 , 8.75, and 4.29 % of subjects, respectively. The CYP2C8*4 allele was less frequent, with CC and CG genotypes at 97.86 % and 2.14 %, respectively, and the GG genotype was absent. Allele frequencies for CYP2C8*2, *3, and *4 were 7.5 %, 8.57 %, and 1.07 %, respectively. Our findings reveal that the allelic frequencies for the CYP2C8 polymorphisms in the Saudi pediatric cohort are substantially elevated compared to those reported in other Asian populations. This suggests Saudis may experience more varied drug responses, especially for medications that undergo metabolism by the CYP2C8 enzyme, like ibuprofen.

Correlation and regression analysis of KRT35 and TCHHL1 functional genes for cashmere fineness in Liaoning cashmere goats

Liaoning cashmere goat (LCG) is the world’s highest cashmere producing white cashmere goat. It has the characteristics of long cashmere fiber, high net cashmere rate, moderate cashmere fineness, white cashmere, strong size, strong adaptability, stable genetic performance, and good effect in improving middle and low production cashmere goat. It is known as “National treasure of China”. With LCG as the paternal parent, five new local breeds have been cultivated, which has made outstanding contributions to the improvement and breeding of Chinese cashmere goat breeds. LCG cashmere has moderate fineness (the average fineness of cashmere of LCG population is about 16 µm).However, as a slightly coarse textile raw material, we hope to identify the key genes regulating cashmere fineness through PCR-seq and MLR, in order to reduce cashmere fineness.We collected and extracted DNA from the blood of Liaoning cashmere goats, designed primers, PCR amplification, and Statistical analysis. It was found that the the AA genotype of the G3667A locus of the KRT35 gene, CT genotype of the T615C locus of the TCHHL1 gene in bucks and the CC genotype of does, as well as CT genotype of the T615C locus of the TCHHL1 gene in bucks and the CC genotype of does are dominant genotypes in cashmere fineness. The dominant haplotype combination with multiple factors and effects of cashmere fineness has been determined to be CTGG in bucks and TTGG in does. There was a significant linear regression relationship between the fineness of cashmere in LCG and the cashmere rate and cashmere quantity. There is a significant linear regression relationship between the fineness of LCG and the cashmere rate and cashmere quantity. CF = 0.001SQ-0.71CY + 20.784 (R2 = 0.818) in buck and CF = 0.001SQ-0.767CY + 22.009 (R2 = 0.863) in doe. Conclusion: The AA genotype of KRT35 gene, CT genotype of TCHHL1 gene in bucks and CC genotype of does can be used as molecular markers to assist in the selection of cashmere fineness.

Genetic variants in BDNF (rs6265 and rs11030119) and stroke susceptibility: a case-control analysis in South India

Background Stroke occurs when the blood supply to part of the cerebral cortex is blocked, depriving it of oxygen and glucose, leading to cell death. It is a multifactorial disorder influenced by genetic, vascular, and environmental factors. Aim This study investigated the association between two polymorphisms of the brain-derived neurotrophic factor (BDNF) gene, rs6265 and rs11030119, and stroke risk in a South Indian population. Subjects and Methods The study included 163 stroke cases and 160 healthy controls. Genomic DNA was extracted, and genotyping of rs6265 and rs11030119 polymorphisms was done using ARMS-PCR. Allelic and genotype frequencies were calculated, and odds ratios (OR) with 95% confidence intervals (CI) were determined using SPSS version 21.0. Results The rs6265 polymorphism was significantly associated with stroke risk, with the GG genotype more frequent in controls (OR 1.79, 95% CI 1.05–1.76, p = 0.01). The rs11030119 polymorphism showed a positive association, with the AA genotype more prevalent in cases (OR 2.70, 95% CI 1.34–5.44, p = 0.003). Conclusion This study suggests an association between BDNF polymorphisms (rs6265, rs11030119) and stroke risk in a South Indian population. Further research in larger populations is necessary to confirm these findings and explore the mechanisms involved.

Association between the rs12654778 SNP of the β-2 adrenergic receptor and LDL cholesterol levels in the Chilean adult population

IntroductionVarious polymorphisms in the beta-2 adrenergic receptor (ADRB2) gene have been associated with cardiometabolic risk factors, such as hypertension, dyslipidemia, type 2 diabetes mellitus and obesity contributing to the physiopathology of these chronic conditions. However, the association of the single nucleotide polymorphism (SNP) rs12654778 at the ADRB2 gene with metabolic changes has been poorly studied and there is no information on the Chilean adult population. ObjectiveTo investigate the association between the rs12654778 SNP at the ADRB2 gene with cardiometabolic risk markers in a Chilean adult population. MethodsWe conducted a cross-sectional study including 404 participants from the GENADIO study whom were genotyped for rs12654778 and categorized into GG, AG, and AA genotypes. Associations with cardiometabolic risk markers, such as blood pressure, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, blood glucose and insulin were examined using multivariate regression analysis, while statistical models were adjusted for sociodemographic and lifestyle variables. ResultsOur findings indicate a significant association between the presence of the protective genotype (AA) of the rs12654778 polymorphism and lower low-density lipoprotein cholesterol levels corresponding to 8.75mg/dL per each copy of the protective allele (maximally adjusted model). No significant associations were seen for the remaining variables. ConclusionThe AA genotype of the rs12654778 SNP at the ADRB2 gene had a protective effect specifically against low-density lipoprotein cholesterol levels. This is the first study ever conducted in Chile on this SNP of ADRB2 and one of the few conducted worldwide to establish an association between the rs12654778 SNP at the ADRB2 gene and LDL cholesterol.

Hepatocyte nuclear factor 1 alpha variants as risk factor for hepatocellular carcinoma development with and without diabetes mellitus

BackgroundHNF1A gene variants have been reported to be involved in developing mature onset diabetes mellitus (DM). Many studies reported the role of DM as a risk factor for hepatocellular carcinoma (HCC) development. To date, it has not been reported whether HNF1A gene variants are associated with the risk of DM in cirrhotic patients and their subsequent HCC. ObjectiveTo evaluate the HNF1A (the hepatocyte nuclear factor 1 homeobox A) genetic variants as a cofactor with DM for HCC development in hepatitis C virus (HCV)-infected patients. Subjects and methodsThis study was conducted on 140 subjects; 30 had HCC without DM, 30 HCC with DM, and 40 patients had DM with no HCV infection or had HCC; in addition, 80 healthy volunteers with matched ages and genders were enrolled in the study as a control group. Liver function tests, hepatitis viral markers, alpha-fetoprotein (AFP), fasting sugar and HBA1c and HNF1A (rs2464196 and rs1169310) using real-time polymerase chain reaction (PCR) were done for all participants. ResultsThe frequency of HNF1A rs2464196 (AA) genotype in patient groups (DM, HCC, HCC + DM) was significantly higher compared to the control group (P = 0.006, P = 0.018, P < 0.001 respectively). The combined dominant model (AA + GA) of rs 2464196 was significantly higher than the (GG) genotype in patient groups (DM, HCC, HCC + DM) than the control group. In addition, the frequency of the AA genotype is more prevalent in HCC + DM (73 %) compared to the group of DM or HCC patients. In contrast, the HNF1A rs1169310 (TT, TC or CC genotypes) showed no significant difference among the four studied groups and their T or C allele distributions. ConclusionThis finding suggested that the HNF1A rs2464196 (AA) genotype could be associated with DM and may raise the possibility of HCC development among HCV-infected patients who harbour this genotype more than (GG). On the contrary, the HNF1A rs1169310 polymorphism was of no significance as a risk factor in the current study. However, as we limited our study to Egyptian participants, more research on other ethnic groups would be required. Also, large scale studies are recommended on other variants of HNF1A to clarify the role of this gene in HCC development.

Influence of the Brain-Derived Neurotrophic Factor Gene Polymorphism on Weight Loss Following Intragastric Balloon Intervention: A Cross-Sectional Study.

There is noticeable heterogeneity in weight loss outcomes following intragastric balloon (IGB) treatment, with average weight loss ranging between 11% to 15% of total body weight. Genetic variations associated with obesity have been found to influence weight loss response, however such variations are limited. Therefore, the aim of this study is to investigate the impact of the obesity associated brain-derived neurotrophic factor (BDNF) gene polymorphism rs11030104 with weight loss outcomes following IGB treatment. In this cross-sectional study, BDNF rs11030104 was analysed in 106 individuals who underwent intragastric balloon treatment. Weight loss metrics were evaluated at the three-month follow-up: percentage of total weight loss (%TWL), percentage of excess weight loss (%EWL), and percentage of body mass index loss (%EBMIL). The effects of additive and dominant genetic models were evaluated. Both linear and logistic regression were applied to assess associations between rs11030104 genotypes and weight loss metrics. A total of 71 participants completed the 3-month follow-up assessment (loss to follow-up: 33%). This study found a significant association between the BDNF rs11030104 polymorphism and weight loss. A-allele carriers showed a better response to IGB treatment. Individuals carrying the AA genotype were found to have a greater %TWL than those carrying the GG genotype at 3 months post-IGB treatment (11.05% vs 5.09%, p=0.003). Our results suggest that BDNF rs11030104 influences the response to weight loss after IGB treatment and therefore could be added to the growing list of genetic variants that predict greater weight loss response.

The association between ADAMTS14/rs4747096 gene polymorphism and some risk factors and knee osteoarthritis

Knee osteoarthritis (KOA) is an important cause of disability in the world and it denotes a public health defiance of the upcoming years.Aim To examine the connection between ADAMTS14 gene rs4747096 polymorphism and KOA and to assess risk factors associated with KOA.Methods A case control study was conducted on 158 patients with KOA and 120 controls with comparable age and sex randomly recruited from National Research Centre employees. All participants were subjected to full history taking, assessment of KOA severity using WOMAC scoring system, and thorough clinical examination. Blood sample was collected for detection of ADAMTS14/rs4747096 gene polymorphism.Results The frequency of ADAMTS14 gene rs4747096 genotypes among patients with KOA was 73.5% for AA, 25.7% for AG, and 0.7% for GG compared to controls 963%, 31.3%, and 5.6% respectively and the frequency of alleles among patients was 86.4% for A and 78.7% for G compared to controls (78.7% and 21.3% respectively, P < 0.05. The study found that the median levels of total WOMAC score and its domains were significantly higher among KOA patients than controls. The logistic regression analysis revealed that age ≥ 50 years, BMI ≥ 35, and long standing at work were predictive factors for KOA (P < 0.05). Regarding different genetic patterns, only the A recessive pattern of inheritance was found to be a predictive risk factor for KOA.Conclusion For ADAMTS14 rs4747096 genotype, the AA and AG genotypes significantly increased the risk of KOA. The recessive pattern of inheritance, older age, morbid obesity, and prolonged standing at work were the predictive risk factors for KOA. Further studies with larger sample size are encouraged to investigate the mechanism by which this genotype can affect the development of KOA.