Human beta-defensin-1 rs2738047 polymorphism is associated with shisha smoking risk among Saudi population.
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ABSTRACT:
SUBMITTER: Almutairi M
PROVIDER: S-EPMC8025738 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Shisha smoking has increased significantly worldwide over the past decade including in developing countries such as Nigeria. We aimed to understand the reasons for shisha smoking in Nigeria in order to address the lack of context-specific evidence to inform the national response to the growing threat posed by shisha smoking. We adopted the Theory of Planned Behaviour to conduct in-depth interviews among 78 purposely sampled current shisha smokers in 13 states (six in each state), and a quantitative survey including a random sample of 611 current shisha smokers in 12 states, across the six geopolitical zones in Nigeria. The in-depth interview data was analysed using thematic analysis whilst the quantitative survey data was analysed descriptively. We triangulated the key findings from the two datasets using a triangulation matrix organised by the three meta-themes: attitude, subjective norms, perceived behavioural control. Positive attitudes towards shisha smoking stem from shisha flavours, perceived pleasure from shisha smoking, curiosity about product attributes, beliefs about health benefits, limited knowledge on the health effects, and weak regulation. Having friends and family members who smoke shisha and the need to belong, particularly during social events, also promote shisha smoking. Negative societal views towards shisha smoking are potentially a protective factor. The availability of and ability to smoke shisha in many places makes shisha more accessible, whilst the high costs of shisha are potentially prohibitive. The findings also indicate that quitting shisha smoking without support is difficult. Restrictions on flavours, strengthening compliance monitoring and enforcement of the tobacco control laws in relation to shisha (e.g., smoke-free environments in indoor and outdoor public places; health warnings in English on shisha products including the pots; and tax and price measures) have the potential to minimise initiation and use, and to protect the health and wellbeing of Nigeria's general public.
| S-EPMC10836660 | biostudies-literature
Project description:Alcohol-associated liver disease (ALD) is a prevalent liver disorder and significant global healthcare burden with limited effective therapeutic options. The gut-liver axis is a critical factor contributing to susceptibility to liver injury due to alcohol consumption. In the current study, we tested whether human beta defensin-2 (hBD-2), a small anti-microbial peptide, attenuates experimental chronic ALD. Male C57Bl/6J mice were fed an ethanol (EtOH)-containing diet for 6 weeks with daily administration of hBD-2 (1.2 mg/kg) by oral gavage during the final week. Two independent cohorts of mice with distinct baseline gut microbiota were used. Oral hBD-2 administration attenuated liver injury in both cohorts as determined by decreased plasma ALT activity. Notably, the degree of hBD-2-mediated reduction of EtOH-associated liver steatosis, hepatocellular death, and inflammation was different between cohorts, suggesting microbiota-specific mechanisms underlying the beneficial effects of hBD-2. Indeed, we observed differential mechanisms of hBD-2 between cohorts, which included an induction of hepatic and small intestinal IL-17A and IL-22, as well as an increase in T regulatory cell abundance in the gut and mesenteric lymph nodes. Lastly, hBD-2 modulated the gut microbiota composition in EtOH-fed mice in both cohorts, with significant decreases in multiple genera including Barnesiella, Parabacteroides, Akkermansia, and Alistipes, as well as altered abundance of several bacteria within the family Ruminococcaceae. Collectively, our results demonstrated a protective effect of hBD-2 in experimental ALD associated with immunomodulation and microbiota alteration. These data suggest that while the beneficial effects of hBD-2 on liver injury are uniform, the specific mechanisms of action are associated with baseline microbiota.
| S-EPMC8829467 | biostudies-literature
Project description:BackgroundVitiligo is an acquired depigmented skin disorder. It has a genetic and autoimmune background. Human beta defensin-1(HBD-1) plus its gene polymorphism were linked to some autoimmune disorders.ObjectiveTo elucidate the possible role of HBD-1 in the pathogenesis of non-segmental vitiligo (NSV) through evaluation of HBD-1 serum levels and its single nucleotide polymorphism (SNP) in patients having NSV, in addition, to correlating the results with the extent of vitiligo in those patients.MethodsA current case-control study included 50 patients having NSV and 50 controls. The authors used Vitiligo Area Scoring Index (VASI) score to assess vitiligo severity and laboratory investigations to assess serum HBD-1 level using ELISA and defensin-beta1 (DEFB1) SNP using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).ResultsThere were significantly lower HBD-1 serum levels in NSV cases than in controls (p < 0.001). There was a significant predominance of GG DEFB1 genotype and G allele in NSV patients in comparison to controls (p < 0.001). The levels of serum HBD-1 and DEFB1 genotypes were not associated or correlated significantly with any of the personal and clinical parameters of vitiligo patients.Study limitationThe small sample size.ConclusionsDEFB1 gene polymorphism (GG genotype and G allele) may modulate vitiligo risk and contribute to vitiligo development in Egyptian populations. Decreased circulating HBD-1 levels might have an active role in vitiligo etiopathogenesis that could be mediated through its possible anti-inflammatory effects.
| S-EPMC9984704 | biostudies-literature
Project description:Human β-defensin 2 (hBD-2) and hBD-3, encoded by DEFB4 and DEFB103A, respectively, have shown anti-HIV activity, and both genes exhibit copy number variation (CNV). Although the role of hBD-1, encoded by DEFB1, in HIV-1 infection is less clear, single nucleotide polymorphisms (SNPs) in DEFB1 may influence viral loads and disease progression. We examined the distribution of DEFB1 SNPs and DEFB4/103A CNV, and the relationship between DEFB1 SNPs and DEFB4/103A CNV using samples from two HIV/AIDS cohorts from the United States (n = 150) and five diverse populations from the Coriell Cell Repositories (n = 46). We determined the frequencies of 10 SNPs in DEFB1 using a post-PCR, oligonucleotide ligation detection reaction-fluorescent microsphere assay, and CNV in DEFB4/103A by real-time quantitative PCR. There were noticeable differences in the frequencies of DEFB1 SNP alleles and haplotypes among various racial/ethnic groups. The DEFB4/103A copy numbers varied from 2 to 8 (median, 4), and there was a significant difference between the copy numbers of self-identified whites and blacks in the US cohorts (Mann-Whitney U-test P = 0.04). A significant difference was observed in the distribution of DEFB4/103A CNV among DEFB1 -52G/A and -390T/A genotypes (Kruskal-Wallis P = 0.017 and 0.026, respectively), while not in the distribution of DEFB4/103A CNV among -52G/A_-44C/G_-20G/A diplotypes. These observations provide additional insights for further investigating the complex interplay between β-defensin genetic polymorphisms and susceptibility to, or the progression or severity of, HIV infection/disease.
| S-EPMC3664661 | biostudies-literature
Project description:Due to the abundant research on the harmful effects of cigarette smoking and the strict regulations enacted by many health authorities, many smokers are seeking for safer and more acceptable tobacco forms. Waterpipe (also known as shisha or hookah) use has increased dramatically during the past decade, mostly due to its improved taste, lack of regulations and social acceptability as a safer option than cigarettes. However, recent clinical and experimental studies indicate that waterpipe use is as, or even more, harmful than cigarettes. Although they differ in the method of consumption, waterpipe tobacco has similar deleterious constituents found in cigarettes but are generated at greater amounts. These constituents are known to induce oxidative stress and inflammation, the major underlying mechanisms of a wide array of chronic pathological conditions. We review the relationship between waterpipe tobacco use and oxidative stress and the disease potential of waterpipe use.
| S-EPMC7327957 | biostudies-literature
Project description:Tobacco smoking might be impacted by various influences, including psychological, socio-cultural, and economic factors. A community-based cross-sectional survey was conducted in Syrian Arab Republic from March to April 2019 using a web-based questionnaire. The survey aimed at assessing tobacco use (shisha and cigarettes) as well as examining the association between current tobacco use and various sociodemographic and war-related factors. The sample comprised 978 participants (251 males: 727 females) and had a mean age of 24.7 years (SD: 7.60). Most participants were single (n = 825, 84.4%), reside in Damascus and Rif-Dimashq (n = 579, 59.2%), and had a college/university education (n = 911, 93.1%). Concerning smoking, a total of 371 participants (37.9%) were identified to be current tobacco smokers, of whom 211, 84, 76 were exclusive shisha smokers, exclusive cigarette smokers, and dual smokers, respectively. The prevalence of cigarette smoking (exclusive and dual) among males and females was found to be 34.7%, and 10.0%, respectively. On the other hand, the prevalence of shisha smoking (exclusive and dual) among males and females was around 34.3% and 27.6%, respectively. Additionally, various factors have predicted a higher likelihood of cigarette smoking including male gender (AOR = 4.152; 95% CI: 2.842-6.064; p<0.001), and losing someone due to the war (AOR = 1.487; 95% CI: 1.028-2.151; p = 0.035), while unemployed individuals were found to have lower odds of being cigarette smokers (AOR = 0.634; 95% CI: 0.429-0.937; p = 0.022). Concerning shisha smoking, married (AOR = 0.622; 95% CI: 0.402-0.963; p = 0.033), and unemployed individuals (AOR = 0.679; 95% CI: 0.503-0.916; p = 0.011) were found to have lower odds of shisha smoking. Amid the tobacco epidemic in the region, rates of tobacco use in Syria are still worrying. The Syrian armed conflicts may possess a double-edged effect on smoking, and tobacco users who adopt smoking to cope with various stressors should be targeted with well-structured health education, along with appropriate psychological services.
| S-EPMC8412248 | biostudies-literature
Project description:The PR domain containing 16 (PRDM16) gene and the Phosphodiesterase 4D (PDE4) gene are both an essential regulators in the thermogenesis process in the brown adipose tissues (BAT). The influence of polymorphisms in those genes on obesity and blood lipids profile is unknown particularly in the Saudi population, so the current study is aiming to explore that. A case control format was used that involved 89 obese individual and 84 non-obese (control). The PRDM16 (rs2651899) and PDE4D (rs295978) polymorphisms were genotyped using KASP™ (Competitive Allele-Specific PCR) method. The distributions of the AA, GG, and AG genotypes of PRDM16 (rs2651899) polymorphism were 0.19, 0.26 and 0.54, respectively. While the distribution of the mutated allele A was 0.7 in the obese group comparing to 0.34 in the non-obese group. Participants with the mutated genotypes, AA and AG, of PRDM16 (rs2651899) polymorphism were significantly more likely to be obese as compared to participants with wild type genotype (OR = 21, 95% CI = 5.4190 to 84.4231, p value < 0.0001 and OR = 44.6, 95% CI = 11.5984 to 172.0157, p value < 0.0001, respectively). The wild type GG genotype of this polymorphism was associated with higher blood cholesterol, HDL and LDL but lower blood triglyceride compared with the mutated genotypes (p = 0.003, p = 0.008, p = 0.02 and p = 0.003, respectively). In contrast, PDE4D (rs295978) polymorphism was not associated with risk of obesity and had no effects on blood lipids profile. We found that the PRDM16 polymorphism (rs2651899) is a risk factor for obesity and influence blood lipids profiles significantly in Saudi population. While the PDE4D (rs295978) polymorphism didn’t show significant effect on risk of obesity or blood lipids profiles.
| S-EPMC6025268 | biostudies-literature
Project description:Checkpoint programmed death-1 (PD-1) has been identified as an immunosuppressive molecule implicated in the immune evasion of transformed cells. It is highly expressed in tumor cells in order to evade host immunosurveillance. In this study, we aimed to assess the association between single nucleotide polymorphisms (SNP) of PD-1 and the risk of colorectal cancer (CRC) in the Saudi population. For this case-control study, the TaqMan assay method was used for genotyping three SNPs in the PD-1 gene in 100 CRC patients and 100 healthy controls. Associations were estimated using odds ratios (ORs) and 95% confidence intervals (95% CIs) for multiple inheritance models (codominant, dominant, recessive, over-dominant, and log-additive). Moreover, PD-1 gene expression levels were evaluated using quantitative real-time PCR in colon cancer tissue and adjacent colon tissues. We found that the PD-1 rs10204525 A allele was associated with an increased risk of developing CRC (OR = 2.35; p = 0.00657). In addition, the PD-1 rs10204525 AA homozygote genotype was associated with a high risk of developing CRC in the codominant (OR = 21.65; p = 0.0014), recessive (OR = 10.97; p = 0.0015), and additive (OR = 1.98; p = 0.012) models. A weak protective effect was found for the rs2227981 GG genotype (OR = 2.52; p = 0.034), and no significant association was found between the rs2227982 and CRC. Haplotype analysis showed that the rs10204525, rs2227981, rs2227982 A-A-G haplotype was associated with a significantly increased risk of CRC (OR = 6.79; p =0.031).
| S-EPMC9607617 | biostudies-literature
Project description:BackgroundAngiotensinogen (AGT) constitutes a central component of the renin-angiotensin system that controls the systemic blood pressure and several other cardiovascular functions and may play an important role in atherosclerosis pathways. In this study, we employed TaqMan genotyping assays to evaluate the role of 8 AGT variants in primary hypertension (HTN), type 2 diabetes mellitus (T2DM), and obesity as a possible trigger of coronary artery disease (CAD) in a population of 4615 angiographed native Saudi individuals.MethodsLinkage analysis was done by using the Affymetrix Gene Chip array, sequencing by using the MegaBACE DNA analysis system and genotyping accomplished by TaqMan chemistry using the Applied Biosystem real-time Prism 7900HT Sequence Detection System.ResultsSix variants, rs2067853 GG [Odds ratio(95% Confidence Interval) = 1.44(1.17-1.78); p = 0.001], rs7079 [1.49(1.20-1.85); p < 0.0001], rs699 G [1.19(1.08-1.13); p < 0.0001], rs3789679 A [1.51(1.14-1.99); p = 0.004], rs2148582 GG [1.31(1.11-1.55); p = 0.002] and rs5051 TC + CC [1.32(1.13-1.60); p = 0.001] conferred risk for HTN (3521 cases versus 1094 controls). The rs2067853 (p = 0.042), rs699G (p = 0.007) and rs5051 (p = 0.051) also conferred risk for myocardial infarction (MI; 2982 vs 1633), while rs3789679 A (p < 0.0001) and GA + AA (p < 0.0001) as well as rs4762G (p = 0.019) were associated with obesity (1576 vs 2458). However, while these variants appeared to be also associated with CAD (2323 vs 2292), only the rs7079G (p = 0.035) retained its significant relationship. Interestingly, among the haplotypes constructed from these SNPs, the baseline 8-mer haplotype, GGTGGGGT (χ² = 7.02; p = 0.0081) and another GGCGGAGT (χ² = 5.10; p = 0.024), together with several of their derivatives were associated with HTN. T2DM was associated with two 8-mer haplotypes, GGTAGGAC (χ2 = 5.66; p = 0.017) and ATTGAGAC (χ² = 5.93; p = 0.015), obesity with GGCGGAGT (χ² = 9.49; p = 0.0021) and MI was linked to ATTGGGAC (χ² = 6.68; p = 0.010) and GGTGGGAT (χ² = 4.25; p = 0.039). Furthermore, several causative haplotypes were also shared among the risk traits as well as with CAD.ConclusionThese results point to AGT as independently conferring risk for various cardiovascular traits, and possibly interacting with these traits in events leading to atherosclerosis.
| S-EPMC3605175 | biostudies-literature
Project description:ObjectivesPrimary sclerosing cholangitis (PSC) is a chronic inflammatory disease of the bile ducts frequently associated with inflammatory bowel disease (IBD), suggesting an important role for the gut-liver axis. Defensins are small (3.5-4.5 kDa) anti-microbial peptides that contribute to innate immunity at mucosal surfaces and have been implicated in IBD. The aim of this study was to investigate copy number variation of the gene (DEFB4) encoding human β-defensin 2 (HBD2) and protein expression of HBD2 in PSC.MethodsUS and Italian PSC cases and unaffected controls (US PSC patients n=89, US controls n=87; Italian PSC patients n=46, Italian controls n=84) were used to estimate HBD2 gene copy number by both quantitative real-time PCR and paralog ratio test. Serum levels of HBD2 were measured by enzyme-linked immunosorbent assay and liver expression was analyzed by immunohistochemistry.ResultsMean serum levels of HBD2 were significantly greater in PSC (1,086±1,721 ng/μl) compared with primary biliary cholangitis (544±754 ng/μl), ulcerative colitis (417±506 ng/μl), and healthy controls (514±731 ng/μl) (P=0.02). However, no significant differences between the frequencies of high DEFB4 gene copy number, defined by >4 copies, and PSC were found in the US, Italian, or combined cohorts. Importantly, a high number of biliary ducts were found immunopositive in PSC samples compared with controls.ConclusionsOur data show that HBD2 serum levels and tissue expression are increased in PSC subjects, suggesting that this arm of innate immunity may be important in the etiopathogenesis of PSC.
| S-EPMC5387757 | biostudies-literature