Southern Iranian Population Research Articles

Investigation of PD-1 gene variants in patients with endometrial cancer: A case-control study.

To assess the possible association of two single-nucleotide polymorphisms (SNPs), PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T), with endometrial cancer (EC) susceptibility. In addition, the correlations between these SNPs and available clinicopathologic characteristics of patients with EC were investigated. In this case-control study, 147 women with pathologically confirmed EC and 258 age- and ethnically matched healthy women were enrolled between June 2019 and May 2022. Genomic DNA was extracted, and genotyping of PD-1.3 (+7146G/A) and PD-1.5 (+7785C/T) SNPs was performed. Haplotype analysis was also performed. Pearson's chi-square test with Yates correction was used to evaluate differences in allele and genotype distributions. The 95% confidence interval and odds ratio were determined using an unconditional logistic regression model. There were no remarkable differences in the allele and genotype distributions of PD-1.3 (rs11568821) and PD-1.5 (rs2227981) between healthy controls and EC patients. However, there was a remarkable difference in the AC haplotype between the control and EC groups. No association was found between the investigated SNPs and the clinicopathologic features of EC. Our results indicated that the aforementioned SNPs were not related to the risk of EC in the southern Iranian population.

Reference Interval for Non-HDL-Cholesterol, Remnant Cholesterol and Other Lipid Parameters in the Southern Iranian Population; Findings From Bandare Kong and Fasa Cohort Studies.

Growing evidence shows the undisputable role of non-HDL-C and remnant cholesterol (remnant-C) in cardiovascular disease (CVD) risk assessment and treatment. However, the reference interval (RI) for these lipid parameters is not readily available. The aim of the present investigation was to determine the age and sex-specific RIs for non-HDL-C and remnant-C as well as other lipid parameters among a healthy population in southern Iran. We also report the RI of lipid parameters in rural and urban residents, smokers and post-menopausal women. Among 14063 participants of Bandare Kong and Fasa cohort studies, 792 healthy subjects (205 men and 578 women) aged 35-70 years were selected. Fasting blood samples were used for determination of total cholesterol (TC), triglycerides (TG) and HDL-C using colorimetric methods. Non-HDL-C and remnant-C were calculated using the valid formula. The 2.5th and 97.5th percentiles were calculated and considered as RI. In the total population (n=792, age 35-70), RIs for non-HDL-C and remnant-C was 74.0-206.8 and 8.0-52.7 mg/dL, respectively. Age (35-44 and≥45 years) and gender-specific RIs for serum non-HDL-C and remnant-C were determined. Remnant-C and non-HDL-C level were different between sex and age categories. The mean value of all lipid parameters except HDL-C was higher in men, urban residents, subject with age≥45 years and smokers. This is the first study in which the RIs for non-HDL-C and remnant-C in southern Iran are reported. This may help physicians to conveniently use these lipid parameters for patient care and better cardiovascular risk assessment.

Epidemiological Profile of Salivary Gland Tumors in Southern Iranian Population: A Retrospective Study of 405 Cases.

Salivary gland tumors (SGTs) are a rare and diverse group of tumors that account for 3 to 10% of all head and neck malignancies. We aimed to conduct a comprehensive epidemiological analysis of SGTs in the south of Iran and compare the findings with previous reports from Iran and other parts of the world. Using a retrospective study, 405 patients diagnosed with SGTs were observed over an eight-year period between April 2013 and October 2021 in Shiraz, Iran. Patients' demographic and clinicopathological features were obtained from patients' records. Quantitative and descriptive data analysis was performed using SPSS software. There were 302 benign (74.5%) and 103 (25.4%) malignant SGTs. Pleomorphic adenoma and Warthin's tumors were the most common benign SGTs (70.5% and 21.5%, respectively). The most common malignant SGTs were mucoepidermoid carcinoma and adenoid cystic carcinoma (26.2% and 22.3%, respectively). There was a statistically significant association between tumor origin and its malignancy status (p < 0.001). In addition, the results indicated that benign tumors were most commonly detected in the parotid gland (p < 0.05). The benign tumors were more frequently observed among the younger population (p = 0.006). In summary, the findings of the current study were mainly consistent with the previous reports from Iran and the rest of the world. Benign tumors were the most prevalent type of SGTs, and the parotid gland was the most common site. While the majority of cases that developed from the major salivary glands were benign, all the minor SGTs were malignant. Older patients were more likely to develop malignant tumors compared to younger ones. This study provides insights into the prevalence, age-related incidence, gender distribution, and geographic variation of salivary gland tumors. This can be instrumental to develop a guideline for screening, diagnosis, and determining an optimal treatment.

Cut-off points for anthropometric indices to screen for hypertension among Iranian adults of the Bandare-Kong cohort: a cross-sectional study

BackgroundObesity is one of the major determinants of blood pressure. This study aimed to determine the optimal sex- and age-specific cut-off points of anthropometric indices, including body mass index (BMI), waist circumference (WC), hip circumference (HC), wrist circumference (WrC), waist-hip ratio (WHR), and waist-height ratio (WHtR), to screen for hypertension (HTN) in a cohort of Iranian adults aged 35 to 70 years, and to compare the predictive performance of the indices based on receiver operating characteristic (ROC) curves.MethodsThis population-based study was carried out on the participants aged 35 to 70 years of the Bandare-Kong Non-Communicable Diseases (BKNCD) Cohort Study, a part of the Prospective Epidemiological Research Studies in IrAN (PERSIAN). Using the area under the receiver operating characteristic curve (AUC) and Youden's J index, optimal sex- and age-specific cut-off points of the anthropometric indices in association with HTN were calculated.ResultsThis study included a total of 2256 females and 1722 males. HTN was diagnosed in 736 females (32.6%) and 544 males (31.6%). The optimal cut-off of WC for HTN was 90 cm in males and 95 cm in females, with an area under the ROC curve (AUROC) of 0.60 and 0.64, respectively. For HC, the optimal cut-off was 95 cm for males and 108 cm for females (AUROC = 0.54 for both). Moreover, WrC optimal cut-offs were 17 cm for males (AUROC = 0.56) and 15 cm for females (AUROC = 0.57). As for BMI, the optimal cut-off was 25 kg/m2 in males and 27 kg/m2 in females (AUROC of 0.59 and 0.60, respectively). Also, a cut-off of 0.92 was optimal for WHR in males (AUROC = 0.64) and 0.96 in females (AUROC = 0.67). On the other hand, WHtR optimal cut-offs were 0.52 for males and 0.60 for females (AUROC of 0.63 and 0.65, respectively).ConclusionsWHR and WHtR, as anthropometric indices of obesity, were demonstrated to be significant predictors of HTN. Further, we suggest using WHR (cut-off point of 0.92 for males and 0.96 for females) and WHtR (cut-off point of 0.52 for males and 0.60 for females) as measures of preference to predict HTN among the southern Iranian population. Further multicenter longitudinal studies are recommended for a more accurate prediction of HTN.

Pre-diabetes, Diabetes Mellitus and Related Cardio-metabolic Risk Factors in the Southern Coastal Region of Iran Middle-aged and Elderly Population; Bandare-Kong Cohort Study.

To evaluate the prevalence of type 2 diabetes mellitus (T2DM), impaired fasting glucose (IFG), and its cardio-metabolic risk factors in the southern Iranian adult population. This is a population-based cross-sectional survey on 3944 middle-aged and elderly adults (35-70 years) from Bandare-Kong. The participants were recruited from 2016 to 2018 and the first phase data of the Bandare-Kong Cohort as a part of the PERSIAN Cohort were used for analysis. Among the 3944 included adults, the age-adjusted prevalence of T2DM and IFG was 17.40% and 20.61%, respectively. Mean FPG was higher among those older than 55 years, females, rural residents, current cigarette smokers, hypertriglyceridemia, hypercholesterolemia, unemployed and low educational level in subjects with diabetes and pre-diabetes. T2DM and IFG were more prevalent in women and men, respectively. Also, those with higher waist circumference (WC), higher body mass index (BMI), lower educational levels, rural residents, former cigarette smokers, hypertension (HTN), hypercholesterolemia, hypertriglyceridemia and age older 45 years, had a higher T2DM and IFG prevalence. Multivariable regression analysis showed that older age, higher WC, HTN and hypertriglyceridemia and living in rural regions were statistically significant predictors of T2DM and pre-diabetes while BMI≥25 kg/m2 was the only significant risk factor for IFG. The current study illustrated that T2DM and IFG have a high prevalence among the middle-aged and elderly adult Iranian population, particularly in rural dwellers. Hence, prevention strategies should be implemented to reduce diabetes and pre-diabetes, especially in rural areas.

Association of Polymorphisms in miR146a, an Inflammation-Associated MicroRNA, with the Risk of Idiopathic Recurrent Spontaneous Miscarriage: A Case-Control Study.

It has been established that microRNAs (miRNAs) are involved in the regulation of immune responses and serve as biomarkers of inflammatory diseases as well as recurrent spontaneous miscarriage (RSM). Herein, we aimed to study the relationship between three functional miR146a gene polymorphisms with idiopathic RSM (IRSM) susceptibility. We recruited 161 patients with IRSM and 177 healthy women with at least one live birth and without a history of abortion. Genotyping was performed using RFLP-PCR and ARMS-PCR methods. We found that the rs6864584 T/C decreased the risk of IRSM under dominant TT+TC vs. CC (OR = 0.029) and allelic C vs. T (OR = 0.028) contrast models. Regarding rs2961920 A/C and rs57095329 A/G polymorphisms, the enhanced risk of IRSM was observed under different genetic contrasted models, including the codominant CC vs. AA (OR = 2.81 for rs2961920) and codominant GG vs. AA (OR = 2.36 for rs57095329). After applying a Bonferroni correction, haplotype analysis revealed a 51% decreased risk of IRSM regarding the ACA genotype combination. This is the first study reporting that miR146a rs57095329 A/G, rs2961920A/C, and rs6864584 T/C polymorphisms are associated with the risk of IRSM in a southern Iranian population. Performing replicated case-control studies on other ethnicities is warranted to outline the precise effects of the studied variants on the risk of gestational trophoblastic disorders.

Association between Administration of Corticosteroids and Mortality among Iranian Patients with COVID-19, A Retrospective Study

Background: According to the evidence, coronavirus disease 2019 (COVID-19) is associated with significant mortality among hospitalized patients. Corticosteroid drugs have had different effects on disease-associated fatality. This study aimed to evaluate the corticosteroid-associated mortality rate and its related risk factors in the southern Iranian population infected by COVID-19. Methods: A retrospective study was conducted on the adult population aged≥20 years admitted to Shahid Mohammadi hospital in Bandar Abbas, Iran between February 2020 and October 2020. All subjects were confirmed for COVID-19 by reverse transcriptase-polymerase chain reaction (RT-PCR). Results: Among 1610 included cases, 150 (9.3%) died. Also, 58.5% and 58.7% of the total hospitalized and mortality cases were male, respectively. The mortality rate in subjects older than 60 years was 2.5 times higher than patients aged 40 years, which was statistically significant (P&lt;0.001). The results of logistic regression analysis revealed that age was the most significant risk factor for mortality. The elderly patients (&gt;60) had nearly ten times higher chance of fatality than patients aged less than 40 years (adjusted odds ratio [aOR]: 9.79, 95% CI: 4.41-21.74). Using corticosteroids independently increased the chance of mortality by 50% (aOR: 1.53, 95% CI: 1.06-2.22). Low oxygen saturation (&lt;93%) raised mortality rate by more than 3.5 times compared to oxygen saturation≥93% (aOR: 3.67, CI 95: 2.54-5.31). In addition, ischemic heart disease (IHD) was another remarkable predictor of death (aOR: 2.85, 95% CI: 1.88-4.31). Conclusion: According to our results, corticosteroids had no benefits for reducing the mortality rates among COVID-19 patients. Further randomized clinical trials are suggested to evaluate the effects of corticosteroids on COVID-19-related mortality.

Association between Endothelial nitric oxide synthase and Hepatic lipase gene polymorphisms with the risk of coronary artery disease in Southern Iran population – A case control study

Coronary artery disease is a multifactorial genetic disease caused by the interaction between genetic and environmental factors. Angiography is the gold standard method for the diagnosis and determining the stage of cardiac disorder. The rs1800588 at the Hepatic Lipase gene and rs1799983 at the endothelial nitric oxide synthase (eNOS) gene are two candidate SNP that result in increased risk of this disease. The aim of this study was to find out the associations of the two mentioned polymorphisms with angiographically proven coronary artery patients in a southern Iranian population. In this study, this two polymorphisms in 287 patients and 229 matched controls were confirmed by angiography and analyzed. Genotype analysis was carried out by PCR and RFLP. Data showed that a significant difference for the eNOS gene polymorphism (p = 0.004) and a non-significant difference for the Hepatic lipase polymorphism (p = 0.261) and increasing severity of angiographic evidences of coronary artery disease were observed. Conclusively the significant association of the G894T with the narrowing of two or three coronary vessels of this patients in an Iranian population have been detected.

Genetic analysis of Usher syndrome associated genes in Iranian pedigrees: The prominent role of MYO7A gene

BackgroundUsher syndrome is the most frequent cause of deaf-blindness with an autosomal recessive inheritance. It is characterized by significant clinical and genetic heterogeneity, which complicated the diagnosis and genetic counselling for affected pedigrees. MethodsWhole Exome Sequencing (WES) was utilized to analyze eight unrelated large Iranian pedigrees suspected to have Usher syndrome with a totally of 23 affected patients. Sanger sequencing was performed to validate the NGS results and confirm the segregation of the mutant allele in affected members and their parents, respectively. ResultsCongenital hearing impairment was the predominant clinical finding of some patients at the time of referral. Genetic analysis revealed pathogenic mutations in Usher syndrome genes (MYO7A, CDH23, ADGRV1, USH1G, and USH2A) among them MYO7A was the most common mutated gene, which was identified in four pedigrees. Here we reported five novel mutations. ConclusionThese data can expand the spectrum of Usher syndrome mutations; furthermore, reveal the most responsible causative gene in patients from the southern Iranian population.

Association study of rs10768683 and rs968857 polymorphisms with transfusion-dependent thalassemia (TDT) in a southern Iranian population

Previous studies reported that detection of polymorphisms inherited through paternal model could be potential markers for the Non-Invasive Prenatal Diagnosis (NIPD) of β-thalassemia. The aim of the current study was to find out the associations of rs10768683 and rs968857 with transfusion-dependent thalassemia (TDT) in a southern Iranian population. A total of 175 subjects were investigated, divided into patients with TDT as case group (n = 75) and healthy people as control group (n = 100). Genomic DNAs were extracted from peripheral blood using salting out procedure. Genotyping rs10768683 and rs968857 was carried out by ARMS-PCR, then statistical analyses were assessed using SPSS, and Medcalc ver. 18 software. Data showed that rs10768683 was statistically significant in co-dominant model of inheritance (P = 0.025, OR = 2.11 [1.08-4.15]) and genotype frequencies of CG among controls and cases were 0.68 and 0.80, respectively. However, according to genotype frequencies, there was no association between rs968857 and TDT among cases and healthy controls in any models of inheritance. In conclusion, the present study showed the association of rs10768683 with major β-thalassemia through ARMS-PCR technique.

Association between type 2 diabetes mellitus, biochemical factors and UCSNP-43 polymorphisms of CALPIN-10 gene in patients with atherosclerosis of coronary artery disease in Southern Iran population.

Introduction: Genetic variations in the calpain 10 gene (CALPIN-10), single nucleotide polymorphisms-43 (SNP-43), have increased the risk of type 2 diabete mellitus (T2DM) and coronary artery disease (CAD). Methods: We studied the control and CAD groups for association of association of SNP-43 in the CALPIN-10 gene with T2DM and other risk factors of its complications. Overall, we examined 452 individuals, 224 patients with CAD and 228 healthy subjects for CAD in Iranian population. All the subjects were genotyped for the CALPIN-10, SNP-43 by polymorphism chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods, using biochemical methods to detect fasting glucose and other biochemical factors in the blood sample. We assessed frequencies of SNP-43 alleles between CAD and normal population groups. Results: In CAD patients, the GG allele was significantly associated with T2DM and GG allele was causing high level of glucose. But in control group, there was no relationship between them. Between clinical and biochemical risk factors with different genotypes there was no significant difference in the compared group. Conclusion: The results of our study suggest no significant association between SNP-43 and the risk of T2DM. In other words, CALPIN-10 did not show a major diabetes gene pool capacity in normal southern Iranian population.

Evaluation of single nucleotide polymorphism rs11614913 in mir196a2 with breast cancer susceptibility in Southern Iranian population

Evaluation of single nucleotide polymorphism rs11614913 in mir196a2 with breast cancer susceptibility in Southern Iranian population

Investigation of FOXP3 genetic variations at positions -2383 C/T and IVS9+459 T/C in southern Iranian patients with lung carcinoma.

FOXP3 gene is an X-linked gene that encodes FOXP3 protein, an essential transcription factor in CD4+CD25+FOXP3+ regulatory T (Treg) cells. We aimed, in the present study, to investigate the association of two FOXP3 polymorphisms, -2383 C/T (rs3761549) and IVS9+459 T/C (rs2280883), with lung cancer. In a case-control study we analyzed genotypes and alleles frequencies at -2383 C/T and IVS9+459 T/C positions in 156 patients with lung cancer and 156 age and sex matched healthy controls in Southern Iranian population, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. The data were verified by direct automated DNA sequencing. The frequency of -2383 T allele was significantly higher in the patients than in the control group (11.8% versus 5.9%, P-value=0.04, OR=2.13, 95%CI=1.04-4.54). T allele frequency at IVS9+459 T/C position was higher, compared to the controls, in the patients who presented the disease over 55 years old (69.9% versus 59.1%, P-value=0.04, OR=1.61, 95%CI=1.01-2.55) and also in SCLC patients (77.8% versus 59.1%, P-value=0.03, OR=2.42, 95%CI=1.05-5.59). No significant differences were found in the genotypes and haplotypes distributions between the cases and controls. A high degree of linkage disequilibrium was observed between two polymorphisms. As the first study dealing with -2383 C/T and IVS9+459 T/C in lung cancer, our data conclusively suggest the association of -2383 T allele with susceptibility to lung cancer in Iranian population. The association of IVS9+459 T allele with susceptibility to lung cancer in old patients suggests the age-dependent effects of FOXP3 gene on cancer occurrence.

Genetic polymorphisms of glutathione-s-transferase M1 and T1 genes with risk of diabetic retinopathy in Iranian population.

To the best of our knowledge, this is the first report on the contributions of GST genetic variants to the risk of diabetic retinopathy in an Iranian population. Therefore, the objective of this study was to determine whether sequence variation in glutathione S-transferase gene (GSTM1 and GSTT1) is associated with development of diabetic retinopathy in type 2 diabetes mellitus (T2DM) Iranian patients. A total of 605 subjects were investigated in this case-control study; Study groups consisted of 201 patients with diabetic retinopathy (DR), 203 subjects with no clinically significant signs of DR and a group of 201 cases of healthy volunteers with no clinical evidence of diabetes mellitus or any other diseases. The GSTM1 and GSTT1 were genotyped by multiplex-polymerase chain reaction (multiplex-PCR) analysis in all 404 T2DM patients and 201 healthy individuals served as control. Increased odds ratio showed that GSTM1-null genotype had a moderately higher occurrence in T2DM patients (OR=1.43, 95% CI=1.01-2.04; P=0.03) than in healthy individuals. However, the frequency of GSTT1 genotype (OR=1.41; 95% CI=0.92-2.18; P=0.09) was not significantly different comparing both groups. Although, regression analysis in T2DM patients showed that GSTM1 and GSTT1 genotypes are not associated with T2DM retinopathy development. Our findings suggest that GSTM1 and GSTT1 genotypes might not be involved in the pathogenesis of type 2 diabetes mellitus retinopathy in the Southern Iranian population. However, further investigations are needed to confirm these results in other larger populations.

Non-modifiable Factors of Coronary Artery Stenosis in Late Onset Patients with Coronary Artery Disease in Southern Iranian Population.

Introduction: Coronary Artery disease (CAD) is influenced by genetic factors, environment and culture behavior. The aim of the present study was to evaluate some non-modifiable risk factors of coronary heart disease such as sex, age, family history and consanguineous marriage. Methods: This is a case-control study. The study population consisted of 200 fifteen or more years old. Data were collected on 200 patients with positive angiography and 200 control subjects with negative angiography. Positive angiography was defined as coronary diameter cut greater than 50%. Statistical analysis was conducted using SPSS 11.5. In this study, data were collected through a checklist. Logistic regression and stratification were used to determine the impact of age, gender, family history, and consanguinity on the risk of stenosis. Results: The percentage of men in patients and controls were 89% and 29%, respectively. As to gender, a significant association was found between patients and controls of CAD (CI 95%, 4.014-10.052, OR 6.352). Gender was determined as a risk factor for CAD. Family history of myocardial infarction did not show a significant effect on the artery stenosis. As to consanguinity of the parents, there was no significant association between patients and controls of CAD (P> 0.05). Conclusion: These researches show that ageing increases the risk of coronary heart stenosis; also, females are more than men protected against this disease. The impact of family history of myocardial infarction and consanguineous marriage were not associated with of CAD.

CCL22 16C/a genetic variation is not associated with breast carcinoma in Southern Iranian population.

CCL22/MDC is a CC chemokine with a critical role in regulation of the immune balance in physiological condition. CCL22/CCR-4 ligation has been documented to participate in the migration of regulatory T (Treg) cells and Th2 lymphocytes to the site of breast tumors; circumstances that are known to be associated with poor prognosis. To investigate the association of a single nucleotide polymorphism (SNP) in CCL22 gene; 16C/A (rs4359426; Asp2Ala), with susceptibility to breast cancer in a sample of Iranian population. 161 patients with pathologically confirmed breast carcinoma (mean age 49.3 ± 11.5 yrs) and 178 age-matched healthy women (mean age: 49.3 ± 12.9 yrs) were studied. CCL22 genotypes were investigated by the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Data was verified by direct automated sequencing. Arlequin analysis showed no deviation from Hardy-Weinberg equilibrium. The most frequent genotype in both patient and control groups was wild type CC genotype with frequency of 146 out of 161 (90.7%) among patients and 153 out of 178 (86.0%) in control group (p=0.24). The frequency of CA genotype was 15 (9.3%) and 23 (12.9%) in patients and controls, respectively (p=0.38). No AA genotype was observed among patients but this genotype was observed with the frequency of 2 out of 178 (1.1%) in control subjects. The minor allele frequency (MAF) was 0.07 in the population. No correlation was found between the investigated genotypes and clinicopathological characteristics of the patients. Conclusively, results of this investigation do not support the association of 16C/A SNP (rs4359426; Asp2Ala) in CCL22 gene with susceptibility to, and progression of, breast cancer in Iranian population.

A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease

Wilson disease is associated with a defect in copper metabolism and caused by different mutations in ATP7B gene. The aim of this study was to determine mutation frequency of ATP7B exons 8 and 14 in Wilson disease patients from the south of Iran. The exons 8 and 14 of ATP7B gene were analyzed in 65 unrelated Wilson disease patients by Denaturing High Performance Liquid Chromatography, and samples with abnormal peak profile were selected for direct DNA sequencing. Seven out of 65 (10.8%) patients had mutations at exon 14, including c.3061-1G>A in four and c.3207C>A in three patients. In addition, four different mutations were identified at exon 8 of six patients (9.2%). Three of these mutations have been previously reported, including c.2304delC in two patients, c.2293G>A and 2304dupC each in one patient. Furthermore, a novel mutation, c.2335T>G (p.Trp779Gly), was identified in two unrelated patients. The patients with this novel mutation demonstrated severe neuropsychiatric condition. All together, 13 out of 65 (20%) patients had mutations within exons 8 and 14. We also identified a lower frequency of the most common mutations of exons 8 and 14 in the southern Iranian population.

Prevalence and Assessment of the Appropriate Laboratory Indices for Screening of Hemoglobinopathyies in Southern Iranian Newborns

Introduction: Newborn screening is a systematic application of tests for early detection, diagnosis, and treatment of certain genetic or metabolic disorders that may lead to mortality and morbidity if untreated. As stated by WHO, each year over 330,000 babies are born worldwide with a severe form of hemoglobinopathy. Newborn screening for hemoglobinopathies could become one of the most important methods of decreasing mortality and morbidity and mitigating rising healthcare costs. The diversity and heterogeneous distribution of hemoglobin disorders make it necessary to develop strategies at the country level. Methods: Overall, 499 healthy full term Iranian neonates were screened for hemoglobinopathies who were originated from Fars province in southern part of Iran. The screening was performed on cord blood samples collected on EDTA. Following sample collection, complete blood cell count cell indices, osmotic fragility test and hemoglobin electrophoresis were performed. Results: Total prevalence of significant hematologic abnormal findings was 12.4% in this study, the most prevalent one was Alpha thalassemia (6.4%) followed by hereditary spherocytosis (4.8%), and sickle cell anemia (1.2%). The total analysis for detection of Alpha thalassemia by mean corpuscular volume (MCV) ≤ 94, mean corpuscular hemoglobin (MCH) ≤ 27, and hemoglobin level ≤ 14 indicated failure and these results were not appropriate to this discrete population. Conclusion: We suggested the new cut off points for neonatal screening programs of the Iranian population be MCV≤96 and MCH ≤31 for Alpha thalassemia. A successful disease prevention strategy could lead to significant savings in spiraling healthcare costs and mitigate the scarcity of blood products. The healthcare budget savings realized from preventive screening justifies the spending on such a national thalassemia program. We recommended a neonatal screening program for southern Iranian population and also designed a new format for neonatal discharge summary.

Salivary Gland Tumors in Maxillofacial Region: A Retrospective Study of 130 Cases in a Southern Iranian Population

Tumors of the salivary glands are uncommon head and neck neoplasia. We conducted a retrospective study of 392 cases over the last 6 years in Shiraz, south of Iran, to investigate the clinicopathological features of these tumors in Iranian population. The age of the patients ranged from 8 to 85 years, with the mean age 44.57 ± 14.65 years and male-to-female (M : F) ratio was 1.02 : 1. For benign tumors, there was a propensity towards females, whereas the malignant tumor was more common in males. The ratio of benign tumors to malignancies was 2.19 : 1. Pleomorphic adenoma (PA) was the most common tumor and accounted for 85% of all benign tumors, followed by Warthin's tumor (8.6%). Of the 125 malignancies, adenoid cystic carcinoma (40%), mucoepidermoid carcinoma (24%) and invasive squamous cell carcinoma (16%) were the most common histological types. Most of the salivary gland tumors (75%) originated from major salivary glands and the remained (25%) originated from minor glands. The parotid gland was the most common site both in benign and malignant tumors. Most of our findings were similar to those in the literature, with some variations. The salivary tumors slightly predominated in males. Adenoid cystic carcinoma and mucoepidermoid carcinoma constituted the most common malignancies.

The frequency of transforming growth factor‐β1 gene polymorphisms in a normal southern Iranian population

Several single nucleotide polymorphisms (SNPs) of the transforming growth factor-beta1 gene (TGFB1) have been reported. Determination of TGFB1 SNPs allele frequencies in different ethnic groups is useful for both population genetic analyses and association studies with immunological diseases. In this study, five SNPs of TGFB1 were determined in 325 individuals from a normal southern Iranian population using polymerase chain reaction-restriction fragment length polymorphism method. This population was in Hardy-Weinberg equilibrium for these SNPs. Of the 12 constructed haplotypes, GTCGC and GCTGC were the most frequent in the normal southern Iranian population. Comparison of genotype and allele frequencies of TGFB SNPs between Iranian and other populations (meta-analysis) showed significant differences, and in this case the southern Iranian population seems genetically similar to Caucasoid populations. However, neighbour-joining tree using Nei's genetic distances based on TGF-beta1 allele frequencies showed that southern Iranians are genetically far from people from the USA, Germany, UK, Denmark and the Czech Republic. In conclusion, this is the first report of the distribution of TGFB1 SNPs in an Iranian population and the results of this investigation may provide useful information for both population genetic and disease studies.