Nanocurcumin supplementation improves pulmonary function in severe COPD patients: A randomized, double blind, and placebo-controlled clinical trial.

Considering the anti-inflammatory properties of curcumin, the present study was designed to investigate the effect of nano-curcumin on respiratory indices and interleukin-6 (IL-6) levels in severe chronic obstructive pulmonary disease (COPD) patients as a common pulmonary disease causing restricted airflow and breathing problems. In the current double-blind placebo-controlled randomized clinical trial study, 60 patients with stages 3 and 4 COPD were randomly assigned into 80 mg nano-curcumin (n = 30) and placebo groups (n = 30) for 3 months. The effect of nano-curcumin on pulmonary function was evaluated by the first second of forced expiration (FEV1) to the full, forced vital capacity (FVC) ratio. IL-6 serum level, blood pressure, and anthropometric indices were also measured. Nano-curcumin supplementation led to a significant decrease in IL-6 level (p < 0.001) and an increase in FEV1 (p < 0.001), FVC (p = 0.003), and FEV1/FVC (p < 0.001) compared to placebo at the endpoint. Nano-curcumin had a significantly increasing effect on weight and body mass index compared to the placebo group (PANCOVA adjusted for baseline values = 0.042). There was a meaningful improvement in systolic blood pressure in the nano-curcumin group compared to the placebo group (PANCOVA adjusted for baseline values = 0.026). There was no significant difference between the two groups in terms of waist circumference, waist-to-hip ratio, and diastolic blood pressure (PANCOVA adjusted for baseline values >0.05). Nano-curcumin supplement seems to have favorable effects on inflammation status and respiratory indices of patients with severe COPD.

Carotenoids supplementation and inflammation: a systematic review and meta-analysis of randomized clinical trials.

The aim of this study was to perform a systematic review and meta-analysis on randomized controlled trials investigating the effects of carotenoids on selected inflammatory parameters. PubMed, SCOPUS, and Web of science were searched from inception until April 2021. The random-effect model was used to analyze data and the overall effect size was computed as weighted mean difference (WMD) and corresponding 95% of confidence interval (CI). A total of 26 trials with 35 effect sizes were included in this meta-analysis. The results indicated significant effects of carotenoids on C-reactive protein (CRP) (WMD: ‒0.54 mg/L, 95% CI: ‒0.71, ‒0.37, P < 0.001), and interleukin-6 (IL-6) (WMD: ‒0.54 pg/mL, 95% CI: ‒1.01, ‒0.06, P = 0.025), however the effect on tumor necrosis factor-alpha (TNF-α) was not significant (WMD: ‒0.97 pg/ml, 95% CI: ‒1.98, 0.03, P = 0.0.059). For the individual carotenoids, astaxanthin, (WMD: ‒0.30 mg/L, 95% CI: ‒0.51, ‒0.09, P = 0.005), lutein/zeaxanthin (WMD: ‒0.30 mg/L, 95% CI: ‒0.45, ‒0.15, P < 0.001), and ß-cryptoxanthin (WMD: ‒0.35 mg/L, 95% CI: ‒0.54, ‒0.15, P < 0.001) significantly decreased CRP level. Also, only lycopene (WMD: ‒1.08 pg/ml, 95%CI: ‒2.03, ‒0.12, P = 0.027) led to a significant decrease in IL-6. The overall results supported possible protective effects of carotenoids on inflammatory biomarkers.

Assessing the Effect of Zinc Supplementation on the Frequency of Migraine Attack, Duration, Severity, Lipid Profile and hs-CRP in Adult Women.

Migraine is a widespread incapacitating neurologic disorder with debilitating headaches which are usually throbbing due to inefficacy and several side effects, complementary therapies recommended as possible alternatives. The current randomized controlled trial was carried out to evaluate the effect of zinc gluconate supplementation on migraine-related symptoms, serum level of high sensitivity C-reactive protein (hs-CRP) and lipid profile in migraineurs. Present study was designed as randomized double-blind, placebo-controlled trial. Sixty women with migraine (mean age of 35.44 ± 7.42 years) were randomly allocated to obtain 15 mg per day of zinc gluconate or placebo for 12 weeks. Frequency, periods of headaches and severity of migraine based on numerical rating scale questionnaire and migraine disability assessment (MIDAS) test were checked. Fasting serum level of lipid profile and hs-CRP were assessed at the beginning and the end of trial. Zinc gluconate supplementation significantly reduced the frequency (p = 0.001), periods of migraine attacks (p < 0.001) and severity of migraine and MIDAS (p < 0.001) compared with control group. The serum level of low-density lipoprotein (p < 0.001), total cholesterol (p < 0.001) and hs-CRP (p < 0.001) decreased following zinc supplementation, but no significant differences in serum level of triglycerides (p = 0.1) and high-density lipoprotein (p = 0.3) was observed. However, after adjustment for baseline values using analysis of covariance test, none of lipid profile components and hs-CRP showed a significant difference. Zinc supplementation has beneficial effect on the migraine related complications like its severity, frequency. TRIAL REGISTRATION: Iranian Registry of Clinical Trials Identifier: IRCT20191014045100N1.

Major dietary patterns in relation to age-related cataract.

BACKGROUND AND AIMS: Dietary pattern (DP) may play an important role in the formation of Age-related cataract (ARC). The objective of the study was to investigate the association between DP and ARC. METHODS: Participants (120 cases and 240 controls) aged 50-80 years were selected from the ophthalmology clinic of Urmia Imam Khomeini Educational Hospital in the Northwest of Iran by the simple random sampling method between 2017 and 2018. Participants in matched case-control study were free of diabetes, autoimmune diseases and cancer. Factor analysis method was used to identify the major DPs. The association between participants' DPs and ARC were evaluated using logistic regression analysis in SPSS20. RESULTS: Four major DPs were found and nominated: "Unhealthy", "Healthy", "Salty foods" and "Mixed" patterns. In continues model the Unhealthy pattern was positively associated with the risk of ARC disease (odds ratio in adjusted model was 5.71; 95% CI: 3.68-8.87, P trend< 0.001). The Healthy pattern was inversely associated with the ARC (odds ratio in adjusted model was 0.48; 95% CI: 0.34-0.67, Ptrend = 0.02). The Salty foods pattern was associated with ARC (odds ratio in adjusted model was 1.45; 95% CI; 1.04-2.02, Ptrend = 0.03). The association between ARC disease and Mixed patterns was not statistically significant. CONCLUSION: The results indicate that Unhealthy and Salty foods patterns were associated with increased risk of ARC. Further prospective studies are needed to confirm such an association.

Higher oxidative balance score is associated with better glycemic control among Iranian adults with type-2 diabetes.

The oxidative balance score (OBS) is a measure of combined pro- and anti-oxidant exposure status, with a higher OBS representing a predominance of anti- over pro-oxidant exposures. We aimed to examine the association of OBS and glycemic control among Iranian adults with type-2 diabetes. This cross-sectional study was conducted among 476 adults with type-2 diabetes (mean age 56.2 y; 66.6% female). Fasting glycosylated hemoglobin (HbA1c) and serum glucose (FSG) levels were measured as markers of glycemic control. The OBS was calculated by combining information from a total of 18 a priori selected pro- and anti-oxidant components. These components were comprised of the following four categories: dietary anti-oxidants (i.e., dietary intakes of selenium, fiber, retinol, α-carotene, ß-carotene, ß-cryptoxanthin, lutein, lycopene, vitamin D, vitamin E, folate, and vitamin C); dietary pro-oxidants (i.e., dietary intakes of iron, saturated fatty acid, and poly-unsaturated fatty acid); non-dietary anti-oxidants (i.e., physical activity); and non-dietary pro-oxidants (i.e., smoking and obesity). After adjusting for several potential confounders in the analysis of covariance models, multivariable adjusted means of HbA1c and FSG of subjects in the highest tertile of OBS were significantly lower than those in the lowest tertile (for HbA1c: mean difference -0.73%; and for FSG: mean difference -10.2 mg/dL; both P < 0.050). The findings suggest that a higher OBS, indicating a predominance of anti- over pro-oxidant exposures, is associated with a better glycemic control among Iranian adults with type-2 diabetes. However, future prospective studies of adequate methodological quality are warranted to confirm these findings.

Evaluating the relationship between dietary intake with inflammatory factors, lipid profile and clinical symptoms in patients with rheumatoid arthritis.

BACKGROUND AND AIM: Rheumatoid arthritis (RA) is one of the most common life-threatening and associated with inflammation. The aim of this study was to evaluate the relation between dietary intake, inflammatory factors, lipid profile, medication and clinical outcomes in patients with rheumatoid arthritis. METHODS: This cross-sectional study were conducted in 72 patients with RA that referred to Rheumatology Clinic, Urmia, Iran. After describing the study and obtaining patient consent, fasting blood samples were collected from all participants in start stage, Nuclear Factor-Kappa B (NF-KB), Oxidized Low-Density Lipoprotein (Ox-LDL), lipid profile and clinical symptoms were record in participants. Also, Data on dietary intake and physical activity were collected with relevant questionnaires. RESULTS: There was a positive significant relation between energy intakes and low-density lipoprotein Cholesterol (LDL-C) (R = 0.855, P = 0.023), carbohydrate intake with total cholesterol (R = 0.297, P = 0.045), carbohydrate intake and NF-kB (R = 0.292, P = 0.017), fat intakes and Ox-LDL (R = 0.321, P = 0.027), prednisolone and Triglyceride (TG) (R = 0.378, P = 0.016), calcium supplement, folic acid and High-Density Lipoprotein Cholesterol (HDL-C) (R = 0.259, R = 0.34, R = 0.355, P = 0.09 respectively). In addition, the correlation between carbohydrate and energy intakes with HDL-C were negative significant (R = -0.355, P = 0.09 and R = -0.259, P = 0.034). SJC, Tender Joint Count (TJC), Erythrocyte Sedimentation Rate (ESR) and VAS were related to DAS28 and other variables shown no relation with DAS28. CONCLUSION: There are many factors affecting the clinical symptoms of patients with RA that attention to nutritional and medicinal factors can have a significant role in the clinical symptoms and complications of these patients.

Adaptation and validity assessment of a diet quality index for patients with type 2 diabetes.

PURPOSE: As diet quality indices (DQI) are likely to be influenced by disease background, adapting the existing indices for each disease is crucial. No study has been adapted a DQI for patients with type 2 diabetes. We aimed to adapt healthy eating index and assess its validity for Iranian patients with type 2 diabetes mellitus (T2DM). METHODS: In this cross-sectional study, the analysis was conducted on 489 adults with T2DM. We adapted HEI and assessed its validity using construct validity. Construct validity was assessed using a 168-item semi-quantitative food-frequency questionnaire (FFQ). General linear model was used to assess associations between adapted HEI scores and demographic characteristics, anthropometric indices, physical activity and food and nutrient intakes. RESULTS: Adapted HEI were examined on 489 subjects (163 men and 326 women). Findings showed that in older subjects the mean adapted HEI score was greater than the younger ones. However, it was significant only in women (p = 0.01). Women with higher education level obtained the greater score (p < 0.001). The greatest mean score of the adapted HEI score in men was related to non-smokers. The mean score in both genders were raised following the increase in physical activity level (p < 0.05). Moreover, a reduction in the mean score of adapted HEI was observed in men with higher BMI compared to those with the lower one (p = 0.001). CONCLUSION: Adapted HEI could successfully discriminate diet quality in patients with T2DM. Older and high-educated women were adhered greatly to high quality diets. The adapted DQI linked with greater physical activity level and non-smokers diabetic men with lower BMI.

A comprehensive mechanistic review insight into the effects of micronutrients on toll-like receptors functions.

Toll-like receptors (TLRs) are the special proteins receptors for recognition of molecules related to the pathogens. In this way, TLRs and secreted cytokines as a result of TLRs activation are involved in the inflammation pathways. So far, in vivo and in vitro studies have demonstrated that micronutrients (vitamins & minerals) with a broad range of effects on body health, can regulate TLRs signaling pathways. Current review aimed at determining the possible mechanisms of micronutrient effects on TLRs functions. In the aspect of gene expression, micronutrients have inconsistent effects on mRNA level of TLRs which are dependent on time, dose and type of studied TLR. Also, some micronutrients affect gene expression of TLRs signaling mediators namely TLRs adaptors like Myeloid differentiation primary response 88 (MyD88). In the aspect of TLRs signaling pathways, nuclear factor-κB (NF-κB) is an important mediator which is regulated by micronutrients. Also, the regulatory effects of micronutrients on phosphorylation reactions may be effective in the activation/inactivation of TLRs signaling mediators. In addition, zinc can regulate TLRs signaling indirectly via the zinc finger proteins which have contradictory effects on TLRs cascade. In conclusion, the relationship between micronutrients and TLRs signaling is complicated and depends on some known internal, external and genetic factors like form of studied micronutrient, cell type, TLR agonist, dose and time of exposure, inflammation, apoptosis, cell cycle, and environmental factors. Some unknown factors may be effective in TLRs response and as a result additional mechanistic studies are needed to elucidate exact effect of micronutrients on TLRs signaling.

A randomized controlled trial comparing effects of a low-energy diet with n-3 polyunsaturated fatty acid supplementation in patients with non-alcoholic fatty liver disease.

BACKGROUND: Weight loss is the cornerstone of NAFLD management, but weight maintenance is difficult. Some studies have suggested that n-3 polyunsaturated fatty acid (n-3 PUFA) might have beneficial effects in NAFLD. We aim to compare the effects of a low-energy diet with n-3 PUFA supplementation on liver enzymes, body composition, and cardiometabolic risk factors in NAFLD. MATERIALS AND METHODS: The study was a randomized controlled trial conducted in Urmia in Iran from October 2016 to May 2017. One hundred and fourteen eligible patients were randomly assigned to one of the three following groups: low-energy diet group, n-3 PUFA supplementation (fish oil) group (1500 mg/d), or control group for 12 weeks. Liver enzymes, lipid profile, insulin resistance, and body composition were assessed before and after the intervention. RESULTS: One hundred and four patients completed the study. All groups lost weight, but the reductions were greater in the diet group (-2.97 ± 2.79 kg, P = 0.001). The diet group had significant decreases in fat mass compared to other groups. Insulin resistance, total cholesterol, and low-density lipoprotein cholesterol significantly decreased only in the diet group, and patients who lost weight ≥4% showed significantly larger decreases in serum liver enzymes. N-3 PUFA had no beneficial effects on the study outcomes. CONCLUSION: We found that 1500 mg/d n-3 PUFA supplied for 12 weeks, in contrast to 3.40 ± 2.98% weight loss, does not improve liver enzymes, body composition, and cardiometabolic risk factors in NAFLD patients.

Effects of omega-3 fatty acid supplementation on cigarette craving and oxidative stress index in heavy-smoker males: A double-blind, randomized, placebo-controlled clinical trial.

BACKGROUND: Smoking-induced oxidative stress is thought to contribute to lower levels of omega-3 fatty acids in plasma and brain tissue. This lower level leads to impaired function in a dopaminergic system related to dependence and craving. AIMS: The aim of this study was to evaluate the effects of omega-3 fatty acid supplementation on cigarette craving and oxidative stress index in heavy-smoker males. METHODS: In this double-blind, randomized clinical trial, 54 heavy-smoker males (smoke ⩾20 cigarettes per day) were randomly selected to receive either five capsules of fish-oil-derived omega-3 fatty acid supplements ( n = 27, each 1 g capsule containing 180 mg of eicosapentaenoic acid and 120 mg of docosahexanoic acid) or a placebo ( n = 27) for 3 months. The psychometric evaluations (nicotine dependence and cigarette craving), biochemical markers (urinary cotinine, serum total antioxidant capacity and total oxidant status) and self-reported smoking status were used to assess the cigarette craving and oxidative stress index (oxidative stress index = total oxidant status/total antioxidant capacity). RESULTS: There was a greater reduction in levels of nicotine dependence, cigarette craving and cigarettes smoked per day in the omega-3 fatty acid group compared to the placebo group, and the difference between the two groups increased from baseline to 3-month follow up. The model estimated that these differences were statistically significant ( p < 0.001, p < 0.001 and p < 0.001, respectively). Also, a significant decrease was observed in levels of total oxidant status ( p = 0.008) and oxidative stress index ( p = 0.011) in the omega-3 fatty acid group after intervention. CONCLUSIONS: This study showed that high-dose omega-3 fatty acid supplementation appears to be useful in reducing cigarette craving and oxidative stress index in heavy-smoker males.

The association of FokI and ApaI polymorphisms in vitamin D receptor gene with autoimmune thyroid diseases in the northwest of Iran.

Background: Some genetic factors are involved in the etiology of Hashimoto thyroiditis and Graves' disease as autoimmune thyroid diseases (AITDs). Effects of vitamin D receptor gene polymorphisms in AITDs development have already been investigated in some previous studies. However, no study has been done on the association between VDR FokI and ApaI polymorphisms and AITDs in an Iranian population. In this study, the possible effects of FokI and ApaI polymorphisms on AITDs were investigated in the population of northwest of Iran. Methods: A total of 121 AITDs adult patients and 117 healthy controls matched by age and sex in the same population were included in this study. FokI and ApaI polymorphisms were genotyped by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). Chi-square test and odds ratio (OR) with 95% CI were used to analyze the data. Results: FokI and ApaI genotypes frequencies were not significantly different between the 2 groups (p= 0.06, p= 0.73, respectively). However, FokI "CC" and "CT" genotypes were related to AITDs risk (p= 0.03; OR= 3.75; 95% CI, 1.16-12.17 and p= 0.04; OR= 3.41; 95% CI, 1.03-11.28, respectively). Conclusion: These data suggest that FokI polymorphisms are involved in AITDs susceptibility in the population of northwest of Iran.

Major dietary patterns in relation to menstrual pain: a nested case control study.

BACKGROUND: Dysmenorrhea is one of the most prevalent gynecological disorders, experienced by approximately two third of young women during menstruation. According to literature, nutrition can play a key role in the prevalence and severity of dysmenorrhea. This study aims to investigate the relation between dietary patterns and the risk of dysmenorrhea among university students. METHODS: A nested case control study was conducted among 293 students of Urmia University of Medical Sciences who were randomly recruited via a proportional cluster sampling method. From 293 students, 46 students with moderate to severe dysmenorrhea and 54 students without dysmenorrhea were assigned to the case and control groups, respectively. The major dietary patterns of students were identified by factor analysis and the association between dietary patterns and risk of dysmenorrhea was investigated using logistic regression analysis in SPSS 20. RESULTS: Three major dietary patterns were found and nominated as "Lacto-vegetarian", "Snacks" and "Mixed food items" patterns. After controlling for family history of dysmenorrhea, subjects in the second and third tertiles of "snacks" pattern had a 4.23 (95% CI = 1.32-13.58, P = 0.01) and 3.41 (95% CI = 1.10-10.50, P = 0.03) times, respectively, higher chance to experience moderate to severe dysmenorrhea in comparison with subjects in the first tertile. There was no significant association between the risk of dysmenorrhea and two other dietary patterns. CONCLUSIONS: The results indicate that adherence to "snacks" pattern is associated with an increased risk of moderate to severe dysmenorrhea during menstruation among young women.

Randomized controlled trial on the effects of legumes on cardiovascular risk factors in women with abdominal obesity.

BACKGROUND: The effect of legume-based hypocaloric diet on cardiovascular disease (CVD) risk factors in women is unclear. This study provides an opportunity to find effects of high-legume diet on CVD risk factors in women who consumed high legumes at baseline. METHODS: This randomized controlled trial was undertaken in 34 premenopausal women with central obesity. After 2 weeks of a run-in period on an isocaloric diet, subjects were randomly assigned into two groups: (1) hypocaloric diet enriched with legumes (HDEL) (n = 17) (two servings per day) and (2) hypocaloric diet without legumes (HDWL) (n = 17) for 6 weeks. The following variables were assessed before intervention, 3, and 6 weeks after it: Waist to hip ratio (WHR), total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C), high-sensitive-C-reactive protein (hs-CRP), total antioxidant capacity (TAC), nitric oxides (NOx), and Malondialdehyde (MDA). RESULTS: Both hypocaloric diets reduced hs-CRP in 3 weeks and returned it to basal values after 6 weeks (P = 0.004). HDWL significantly reduced WHR [P = 0.010 (3.2%)] and increased TC [P < 0.001 (6.3%)]. Despite the significant effect of HDEL on increasing TAC in 3 weeks [P = 0.050 (4%)], the level of TAC remained the same in 6 weeks. None of the diets had any significant effects on NOx and MDA. CONCLUSION: The study indicated that beneficial effects of legumes on TC, LDL-C, and hs-CRP were achieved by three servings per week, and consuming more amounts of these products had no more advantages.

Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.

OBJECTIVES: Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran. MATERIALS AND METHODS: A total of 218 alleles from 40 PKU families were studied using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method. RESULTS: The frequencies of IVS10-11, S67P, R261Q, R252W, IVS11nt-1 g>c, R408Q, and Q232Q mutations were 28(35), 17(21.25), 15(18.75), 3(3.75), 3(3.75), 2(2.5), and 1(1.25), in cases group, and 51(23.4), 31(14.2), 27(12.4), 6(2.75), 6(2.75), 4(1.83), and 2(0.92) in total group, respectively. The mutations of R243Q, 364delG, L333F, 261X, I65T, and R408W were not detected in our samples. CONCLUSION: It can be concluded that the IVS10-11 mutation has the highest frequency in the tested population. To our knowledge, this report is the first in its own kind and provides better understanding of the genetic heterogeneity, the origin and distributions of PAH mutations in West Azerbaijan province of Iran.

An Association Study between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs in Women with Polycystic Ovary Syndrome from West Azerbaijan Province, Iran.

BACKGROUND: It has been demonstrated that insulin signaling pathway related genes have important roles in polycystic ovary syndrome (PCOS) risk. The goal of present investigation was to assess the potential association between INSR/NsiI (rs2059806) and INSR/PmlI (rs1799817) SNPs and PCOS. METHODS: 50 women with PCOS and 47 normal controls entered the study. NsiI and PmlI SNPs in the INSR gene were determined by RFLP-PCR. RESULTS: INSR/NsiI (rs2059806) SNP GG, GA, AA, G and A genotypic and allelic frequencies were 45(90%), 5(10%), 0(0%), 95(95%) and 5(5%) in cases and 41 (87.2%), 6(12.8%), 0(0%), 88(93.6%) and 6(6.38%) in controls, respectively. INSR/ PmlI (rs1799817) SNPs resulted in three genotypes of CC, CT, and TT with C and T alleles. The frequencies of PmlI (rs1799817) SNPs in the INSR gene were 37(37%) and 63(63%) in cases, also 39(41.49%) and 55 (58.51%) in controls regarding T and C alleles. The frequencies of PmlI (rs1799817) SNPs in the INSR gene were 4(8%), 29(58%), and 17(34%) in cases, also 5(10.64%), 29(61.7%), and 13(27.66%) in controls regarding TT, TC, and CC genotypes, respectively. CONCLUSION: The present study as the first investigation of its own kind in Iranian Azeri Turkish women, reported no association between NsiI (rs2059806) and PmlI (rs1799817) SNPs in the INSR gene and PCOS risk.

Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.

BACKGROUND: The variable numbers of tandem-repeat (VNTR) alleles at the phenylalanine hydroxylase (PAH) gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. This study was carried out to analyze VNTR alleles at the PAH gene in Iranian Azeri Turkish population. METHODS: In this study, 200 alleles from general population were studied by PCR. RESULTS: The frequencies of VNTR alleles were 45%, 46%, 2%, 3%, 1%, and 3% in studied group regarding 3, 8, 9, 11, 12, and 13 repeat copies, respectively. Statistically significant differences were not found between expected and observed frequencies of VNTR genotypes (P > 0.05). CONCLUSIONS: VNTR alleles with three and eight repeats were frequent, and the VNTR alleles with 13 repeats showed 3% frequency in the tested group. This study is the first report on tested population genetic structure using VNTR alleles at the PAH gene.

Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.

INTRODUCTION: This study was carried out to determine the frequency of the VNTR-polymorphisms at the PAH gene in the Iranian Azeri Turkish patients with phenylketonuria (PKU) and normal controls. MATERIAL AND METHODS: The VNTR-polymorphisms were determined by PCR in 43 PKU patients as well as 43 controls. OUTCOMES: The frequencies of VNTR-alleles were 13(15.1%), 3(3.49%), 64(74.4%), 5(5.81%), and 1(1.16%) in the patients and 43(50%), 0(0%), 42(48.8%), 0(0%), and 1(1.16%) in the controls regarding 3, 7, 8, 9, and 11 repeat copies, respectively. The VNTR alleles with 12 and 13 repeats were not found in our samples. The frequencies of VNTR-genotypes were 25(58.1%), 1(2.33%), 1(2.33%), 10(23.3%), 2(4.65%), 2(4.65%), 1(2.33%), 1(2.33%), and 0(0%) in the patients and 13(30.2%), 13(30.2%), 0(0%), 16(37.2%), 0(0%), 0(0%), 0(0%), 0(0%) and 1(2.33%) in the controls regarding VNTR8/VNTR8, VNTR3/VNTR3, VNTR3/VNTR9, VNTR8/VNTR3, VNTR8/VNTR9, VNTR7/VNTR9, VNTR7/ VNTR8, VNTR8/VNTR11, and VNTR3/VNTR11 genotypes, respectively. The comparisons of VNTRpolymorphisms imply that there are statistically significant differences between the patients and controls regarding VNTR3, VNTR8, and VNTR9 alleles as well as VNTR8/VNTR8 and VNTR3/VNTR3 genotypes (all P-Value <0.05). The frequency of "risk-associated genotype of VNTR8/VNTR8" was significantly higher in the cases. CONCLUSION: It is concluded that this position is heterozygous and there were statistically significant differences between patients and controls concerning the VNTR8/VNTR8 genotype. We found higher frequencies of disease-associated genotype in our samples than controls. This report is the first in its own type in the west Azerbaijani population. Further studies require assessing how this genotype predicts adverse outcomes in tested population.

Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.

INTRODUCTION: We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients. MATERIAL AND METHODS: VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR. OUTCOMES: Our analysis showed that 95% of cases were homozygote for an allele containing eight-repeat VNTR (VNTR8); while 5% were homozygote for an allele containing three-repeat VNTR (VNTR3). The IVS10nt546, R252W, and R261Q mutations were associated with VNTR8 allele, and also, R252W and S67P mutations were associated with VNTR3 allele. VNTR8 was common among mutant alleles as were IVS10nt546-VNTR8 (50%), R252W-VNTR8 (2.5%), and R261Q-VNTR8 (22.5%). The association of VNTR3 was found as R252W-VNTR3 (2.5%) and S67P-VNTR3 (2.5%) among studied cases. The frequency of IVS10nt546-VNTR8/IVS10nt546-VNTR8, IVS10nt546-VNTR8/ND-VNTR8, IVS10nt546-VNTR8/R252W-VNTR8, R261Q-VNTR8/R261Q-VNTR8, R261Q-VNTR8/ND-VNTR8, and S67P-VNTR3/ R252W-VNTR3 were 30%, 35%, 5%, 20%, 5%, and 5%, respectively. R408W mutation was not found in this study. CONCLUSIONS: The present report is the first in its own kind in the west Azerbaijani population (Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is exclusively associated with VNTR8 allele, and IVS10nt546-VNTR8 alleles testing should be considered for routine carrier screening and prenatal diagnostic setting.

Development and validity assessment of a diet quality index for Australians.

Existing Australian diet quality indices have assumed links to health outcomes but their validity for this has not been reported. We extend the features of existing indices for Australian adults by constructing a new diet quality index (Aussie-DQI) using the national dietary guidelines linked to the Australia National Health Priority Areas. Construct validity was assessed using 24 hour dietary recalls from the 1995 National Nutrition Survey (n=10,851 adults aged 19 years and older). Construct and criterion validity were assessed using food frequency questionnaire data from the Nambour Skin Cancer study (n=1355), a community-based longitudinal study with 16 year follow-up and cause-specific mortality outcomes. Generalised linear regression was used to assess associations between Aussie-DQI scores and socio-economic, demographic, health-behaviour characteristics, and food and nutrient intakes, while Cox proportional-hazards modeling was used to assess associations with cancer and allcause mortality. A high Aussie-DQI score was associated with being female, being older, non-smoking status, and BMI in the normal range in both study populations; and Aussie-DQI scores were inversely associated with cancer mortality among men in multivariable-adjusted analyses (hazard ratio = 0.30, 95% CI: 0.11, 0.83; p for trends = 0.06). In conclusion, Aussie-DQI successfully discriminated diet quality and showed that men, younger adults, current smokers and those overweight/obese were less likely to consume foods that meet dietary recommendations; and that a high diet quality is associated with decreased risk of cancer mortality among men. This study adds further evidence to clarify the role of diet quality in decreasing mortality from chronic diseases.