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Abstract Breast cancer (BC) is the second most common cancer and cause of death in women. In recent years many studies investigated the association of long non-coding RNAs (lncRNAs), as novel genetic factors, on BC risk, survival, clinical and pathological features. Recent studies also investigated the roles of metformin treatment as the firstline treatment for type 2 diabetes (T2D) played in lncRNAs expression/regulation or BC incidence, outcome, mortality and survival, separately. This comprehensive study aimed to review lncRNAs associated with BC features and identify metformin-regulated lncRNAs and their mechanisms of action on BC or other types of cancers. Finally, metformin affects BC by regulating five BC-associated lncRNAs including GAS5, HOTAIR, MALAT1, and H19, by several molecular mechanisms have been described in this review. In addition, metformin action on other types of cancers by regulating ten lncRNAs including AC006160.1, Loc100506691, lncRNA-AF085935, SNHG7, HULC, UCA1, H19, MALAT1, AFAP1-AS1, AC026904.1 is described.

Introduction: Obesity is primarily caused by the dysfunction of the energy homeostasis system. Numerous studies have reported an association between obesity and the rs17782313 variant near the melanocortin-4 receptor (MC4R) gene. In addition, the PKHD1 gene regulates the expression of fibrocystin. This gene is primarily expressed in the kidney and plays a role in fat and glucose metabolism. However, the interaction between PKHD1 polymorphisms and birth weight has not yet been investigated. This study showed the association between the rs17782313 variant near the MRC4 gene and rs2784243 in the PKHD1 gene amongst Iranian cases with obesity before maturity. Methods: One hundred and eleven Iranian patients and 100 healthy individuals aged 5 years and over were selected from the Tehran Moheb-e-Yas Hospital. Polymerase chain reaction-restriction fragment length polymorphism and sequencing methods were used for genotyping the genetic variants. A Chi-square test was applied to determine the association between rs17782313 and food intake and rs2784243 and birth weight. Results: The rs17782313 variant was associated with high food intake (P = 0.04), while the rs2784243 variant was associated with increased birth weight (P = 004). Conclusion: The MC4R rs17782313 and PKHD1 rs2784243 variants may contribute to food intake and early obesity. Moreover, a novel association was suggested between PKHD1 rs2784243 and birth weight.

Abstract Background Diabetes mellitus (DM) and its cardiovascular disease (CVD) complication are among the most frequent causes of death worldwide. However, the metabolites linking up diabetes and CVD are less understood. In this study, we aimed to evaluate serum acylcarnitines and amino acids in postmenopausal women suffering from diabetes with different severity of CVD and compared them with healthy controls. Methods Through a cross-sectional study, samples were collected from postmenopausal women without diabetes and CVD as controls (n = 20), patients with diabetes and without CVD (n = 16), diabetes with low risk of CVD (n = 11), and diabetes with a high risk of CVD (n = 21) referred for CT angiography for any reason. Metabolites were detected by a targeted approach using LC–MS/MS and metabolic -alterations were assessed by applying multivariate statistical analysis. The diagnostic ability of discovered metabolites based on multivariate statistical analysis was evaluated by ROC curve analysis. Results The study included women aged from 50–80 years with 5–30 years of menopause. The relative concentration of C14:1, C14:2, C16:1, C18:1, and C18:2OH acylcarnitines decreased and C18 acylcarnitine and serine increased in diabetic patients compared to control. Besides, C16:1 and C18:2OH acylcarnitines increased in high-risk CVD diabetic patients compared to no CVD risk diabetic patients. Conclusion Dysregulation of serum acylcarnitines and amino acids profile correlated with different CAC score ranges in diabetic postmenopausal women. (Ethic approval No: IR.TUMS.EMRI.REC.1399.062).

BackgroundEvidence, albeit with conflicting results, has suggested that cardiometabolic risk factors, including obesity, type 2 diabetes (T2D), dyslipidemia, and hypertension, are highly associated with changes in metabolic signature, especially plasma amino acids and acylcarnitines levels. Here, we aimed to evaluate the association of circulating levels of amino acids and acylcarnitines with metabolic syndrome (MetS) and its components in Iranian adults.MethodsThis cross-sectional study was performed on 1192 participants from the large–scale cross-sectional study of Surveillance of Risk Factors of non-communicable diseases (NCDs) in Iran (STEP 2016). The circulating levels of amino acids and acylcarnitines were measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS) in individuals with MetS (n=529) and without MetS (n=663).ResultsThe higher plasma levels of branched-chain amino acids (Val, Leu), aromatic amino acids (Phe, Tyr), Pro, Ala, Glu, and the ratio of Asp to Asn were significantly associated with MetS, whereas lower circulating levels of Gly, Ser, His, Asn, and citrulline were significantly associated with MetS. As for plasma levels of free carnitine and acylcarnitines, higher levels of short-chain acylcarnitines (C2, C3, C4DC), free carnitine (C0), and long-chain acylcarnitines (C16, C18OH) were significantly associated with MetS. Principal component analysis (PCA) showed that factor 3 (Tyr, Leu, Val, Met, Trp, Phe, Thr) [OR:1.165, 95% CI: 1.121-1.210, P

Background: In-stent restenosis (ISR) is an inevitable complication of percutaneous coronary intervention, with genetic factors thought to play a role in its pathogenesis. The VEGF gene can have an inhibitory effect on ISR development. Accordingly, in the present study, we investigated the role of −2549 VEGF (insertion/deletion [I/D]) variants in ISR formation. Methods: Patients with ISR (ISR+) (n=53) and patients without ISR (ISR-) (n=67) were enrolled in this case-control study based on follow-up angiography 1 year after percutaneous coronary intervention between 2019 and 2020. The clinical characteristics of the patients were evaluated, and the frequencies of the alleles and genotypes of −2549 VEGF (I/D) variants were determined using polymerase chain reaction. The χ2 test was performed for the calculation of genotypes and alleles. A P value of less than 0.05 was considered the level of significance. Results: This study recruited 120 individuals at a mean age of 61.43±8.91 years in the ISR+ group and 62.09±7.94 years in the ISR- group. Women and men, respectively, comprised 26.4% and 73.6% of the ISR+ group and 43.3% and 56.7% of the ISR- group. A significant association was observed between the VEGF −2549 genotype frequency and ISR. The frequency of the insertion/insertion (I/I) allele was significantly higher in the ISR+ group than in the ISR- group, while the frequency of the D/D allele was higher in the latter group. Conclusion: Regarding ISR development, the I/I allele may be a risk allele and the D/D allele a protective allele.

Abstract Background Gestational diabetes mellitus (GDM) is associated with increased risks of disease for mother and child during pregnancy and after that. Early diagnosis of GDM would promote both maternal and fetal health. Metabolomics can simplify and develop our understanding of the etiology, manifestation, or pathophysiology of the disease. This systematic review investigates the association of circulating omega 3, 6, and 9 fatty acids with GDM. Methods We conducted a systematic search of PubMed, Scopus, Web of Science, and EMBASE databases up to May 8, 2020, using the key term combinations of all types of omega fatty acids with gestational diabetes mellitus. Additional articles were identified through searching the reference lists of included studies. Results This systematic review included 15 articles. Five were cohort studies, four included nested case-control studies and four were case-control studies. The results of this study demonstrate an increasing trend in the amount of oleic acid and palmitoleic acid in the second trimester and an increase in decosahexanoic acid in the third trimester of GDM mothers. The changes in other fatty acids of interest are either not significant or if significant, their results are inconsistent with the other existing articles. Conclusions Omega fatty acids, as potential biomarkers, are considered to be associated with GDM risk and thus provide useful information regarding the prevention and early diagnosis of GDM. Moreover, existing metabolomic studies on GDM are shown to provide conflicting results about metabolite profile characteristics. This systematic review was registered at PROSPERO ( www.crd.york.ac.uk/PROSPERO ) as CRD42020196122.

Abstract Background Hypercholesterolemia is a common dyslipidemia that leads to atherosclerosis. It is proved that early stages of atherosclerosis begins in early stages of life. In several studies, widespread prevalence of dyslipidemia in children is reported. So, assessment of lipid profile in children and adolescence is necessary for early diagnosis of dyslipidemia. Laboratory methods for measuring LDL are not available and economical. So, in some laboratories Friedwald method is used to determine LDL level. But, the preciseness of this method is not acceptable. Further, the preciseness of this method was not assayed in children and adolescence. So, it seems that assaying the preciseness of different methods is necessary. Methods The methodology of this work is on the basis of findings of the Caspian V study. This study was conducted in 30 provinces of Iran during 2015. The population of this work was rural and urban students aged 7–18 years old. The level of total cholesterol (TC), HDL, LDL, and TG were measured using laboratory methods. The average and variances values were determined for each group of data using SPSS. Further, LDL values were calculated with a new formula introduced in this work. A comparison was made between the new formula and the other methods. Results In the present study, we found that compare to four common formulas, Friedwald was the best equation to estimate LDL-C concentrations in Iranian children and adolescents and the new formula was the next accurate equation. The strongest correlation between Friedwald and the new equation was found for those with 15–18 years old. Conclusion Considering the cut-off points of TG (100 mg/dL), we observed the strongest correlation between Friedwald equation and direct assay and the weakest one was for Ahmadi formula in subjects with either greater or lower TG concentrations. Furthermore, we found that Anandraja equation had the most sensitivity (89.5%), while the most specificity was dedicated to the new formula (98.9%).

Abstract Background Health-related quality of life (HRQoL) is a multidimensional concept with significant effects and children and adolescence; while physical activity (PA) and screen time (ST) have been suggested as its probable predictors. Present study aims to investigate the association of PA, ST and their combination, with HRQoL in a nationally-representative sample of Iranian children and adolescents. Methods As for the estimated sample size, 25,000 students aged 6–18 years were selected via multi-stage cluster sampling from 30 provinces of Iran. Sociodemographic data was obtained by using the questionnaire of the World Health Organization-Global school based student health survey (GSHS). Persian Pediatric Quality of Life inventory (PedsQL) and Physical Activity Questionnaire for the pediatric age group (PAQ-A) were applied for evaluating HRQoL and PA, respectively. PA scores 1–1.9 and 2–5 were respectively considered as low and high PA. The average duration of time spent on watching TV and leisure time computer use were considered as ST behaviors. ST of less than 2 h was considered low. Results Out of 25,000 invited individuals, 23,043 students (mean age: 12.5) completed the study (response rate: 92.17%). In linear regression models, ST duration had significant inverse association with total QoL (β: − 0.49, p

Objective: To evaluate the efficacy of Zolpidem and Nigella sativa compared to placebo in treatment of sleep disturbance in healthy postmenopausal women. Menopause is a period that diagnosed after 12 months of amenorrhea and is characterized by a group of symptoms that include irregular menses; vasomotor and urogenital symptoms. The effects of non-hormonal therapies are being widely researched on menopause symptoms. There has been no study to compare Zolpidem and Nigella sativa versus placebo. Materials and methods: In this double-blind, placebo controlled trial, we compared the effect of Zolpidem with Nigella sativa and placebo in reducing sleep quality in 60 menopausal women. The prior and the later results were compared. We divided the patients into three groups after history taking and physical examination and filling the Pittsburgh questionnaire. Each group received their medication as the following order: Group A: Zolpidem, Group B: Nigella sativa, Group C: placebo. The first group received Zolpidem with the dose of 5 mg for 8 weeks. The second group received Nigella sativa with the dose of 600 mg for 8 weeks. The third group received placebo for 8 weeks. After two months, the Pittsburg questionnaire was filled again. Results: In the nigella sativa group, we had not significant improvement in sleep quality (p =0.07), hot flashes (p =0.15), palpitation (p =0.56) and night sweets (p =0.08). In zolpidem group, we have seen lack of improvement of hot flashes (p =0.73), and palpitation (p =0.36), which are nonsignificant statistically according to p values, but in zolpidem group, we had significant improvement in sleep quality (p =0.01), and night sweats (p =0.049). Conclusion: It seems that zolpidem has some effect on improving the quality of sleep in postmenopausal women. zolpidem also is good for night sweats. Nigella sativa was not effective in vasomotor symptoms and sleep quality.

Thyroid autoimmunity, being recognized by the presence of auto-antibodies against thyroid peroxidase (TPO) and thyroglobulin, has known to be associated with increased risk of recurrent spontaneous abortion (RSA), even in euthyroid subjects. There was no robust evidence regarding T cell deviations in anti-TPO positive RSA patients. The aim of this study was to investigate if the numbers of different CD4+T subsets were different in women who experienced RSA and have an anti-TPO antibody from those without autoantibody and normal fertile women or not. In this study, peripheral blood samples were obtained from three groups of women (age: 20-35 years) including RSA anti-TPO positive (n=17), RSA anti-TPO negative (n=27), and fertile (n=29) groups. The frequency of T helper (Th) 1, Th2, Th17, and regulatory T cells (Tregs) and also, the proportions of Th1/Th2 and Th17/Treg were measured by flow cytometry and compared between groups in different menstrual phases. The findings indicated elevated levels of Th1 in anti-TPO+ RSA in comparison with those without anti-TPO (p-value: 0.004), exclusively in the luteal phase. Other T cell subsets were different only between RSA and control groups. Also, the Th1/Th2 and Th17/Treg ratios were increased in both RSA groups compared to fertile women. The only subset of CD4+ T cell different between RSA groups (i.e. with and without anti-TPO) was Th1 cells. Other CD4+ T cells’ deviations including Th2, Th17, and Treg cells could be related to the presence of abortion, regardless of the underlying thyroid autoimmunity state.

Introduction: This study aims to evaluate the association of birth weight (BW) with weight disorders in a national sample of Iranian pediatric population. Methods: This nationwide survey was conducted among 25000 student’s aged 6-18 year-old students, who were selected using multistage cluster random sampling from 30 provinces of Iran in 2011-2012. Anthropometric measures were measured under standard protocols by using calibrated instruments. Abdominal obesity was defined based on waist circumference (WC) ≥90th percentile value for age and sex. The WHO criterion was used to categorize BMI. Students’ BW was asked from parents using validate questionnaire and was categorized as low BW (LBW) (BW 4000 g). Results: This national survey was conducted among 23043 school students (participation rate: 92.6%). The mean age of participants (50.8% boys) was 12.54 ± 3.31 years. Results of multivariate logistic regression show that LBW increased odds of underweight (OR [odds ratio]: 1.61; 95% CI: 1.37, 1.89) and students with HBW had decreased odds of underweight (OR: 0.74; 95% CI: 0.58, 0.93) compared to students with NBW. Students with LBW compared to student with NBW had decreased odds of overweight (OR: 0.83; 95% CI: 0.69, 0.98) and general obesity (OR: 0.73; 95% CI: 0.56, 0.95). On the other hand, HBW increased odd of overweight (OR: 1.28; 95% CI: 1.09, 1.50), generalized obesity (OR: 1.59; 95% CI: 1.29, 1.96) and abdominal obesity (OR: 1.29; 95% CI: 1.11, 1.49) compared to NBW group. Conclusion: BW is a determinant of weight disorders and abdominal obesity in childhood and adolescence. This finding underscores the importance of prenatal care as well as close monitoring of the growth pattern of children born with low or high BW.

Background: Type II diabetes is known as one of the most important, prevalent, and expensive diseases of mankind. Late diagnosis and subsequent delayed initiation of treatment or surveillance of patients create a variety of problems for affected individuals. This has raised increasing concerns for public health authorities throughout the world. In the current study, we aimed to find a new approach for early identification of high-risk individuals at initial months of their life. This allows us to take preventive measures as early as possible.Materials and Methods: In our study, 102 infants - from one to six months - were selected and placed in two case and control groups. The case group contained 52 babies with at least one of their parents identified as a type II diabetic patient. The control group comprised 50 babies with no family history of type II diabetes in paternal and maternal first-degree relatives. Afterwards, the expression level of insulin gene was analyzed in white blood cells of both groups. Information related to infants - referred to outpatient and inpatient wards of three main pediatric hospitals placed in Tehran - and their parents were collected through questionnaires within a two-year period. The study inclusion criteria for infants were confirmed type II diabetes in at least one of their parents, the absence of any metabolic disorder, and the absence of any disturbing vital signs. After drawing 2 ml of babies’ peripheral blood, total RNA of white blood cells (WBC) was extracted, and used for cDNA synthesis. Real-Time PCR was then applied to quantitatively evaluate the expression levels of insulin gene. The results of Real-Time PCR were statistically analyzed by non-parametric tests of Mann-Whitney and Kruskal-Wallis.Results: The expression of insulin gene was observed in white blood cells of all samples. However, there was a significant difference in expression levels between case and control groups (p0.05).Conclusion: Numerous genes contribute to the development of diabetes and novel disease-causing genes are increasingly being discovered. Identification of disease-prone individuals through examining merely one underlying gene is complicated and challenging. Interestingly, all of these abnormally functioning genes finally manifest themselves in the altered expression levels of insulin gene. The expression status of insulin gene in WBCs could be suggested as a useful approach for identification of individuals at high risk for developing diabetes. This paves the way for taking appropriate measures at infancy period in order to prevent the disease as well as inhibit its various side effects in the following years of patient’s life.

Background: Vitamin D deficiency is a widespread problem especially in the developing countries like Iran. The prevalence of vitamin D deficiency differs from moderate to severe among Iranian women, particularly among pregnant women, and it can cause some problems such as preeclampsia, gestational diabetes mellitus (GDM), premature labor and primary cesarean section. The aim of this study was to evaluate whether the mode of delivery is related to serum vitamin D levels or not; and if there is any difference in the percentage of cesarean section between vitamin D-deficient and vitamin D-insufficient women. Methods: This cross-sectional study was carried out between the April 2012 and April 2014 in a woman university hospital, Tehran, Iran. One hundred and eighty-six women aged between 17 and 52 years old (Mean age 28.46 and SD5.97) were surveyed in this study. The study group comprised of (N=186) consecutive cases attending Tehran Women General Hospital Clinic for normal vaginal delivery or cesarean section. Women who underwent cesarean section due to previous cesarean delivery were not recruited for the study. The participants were divided into two groups: women with vaginal delivery and women with cesarean section. Serum vitamin D concentration (25(OH) Vitamin D) was measured for each patient. Concentration of serum vitamin D was compared between these 2 groups. Results: One hundred and twenty-eight (68.8%) women had cesarean section and 58 (32.2%) had vaginal delivery. Median and inter-quartile range (IQR) of serum 25(OH) D were 13.64 and 12.47 ng/ml; respectively, among women with cesarean section, compared to 11.68 and 12.59 ng/ml in those with vaginal delivery. No statistically significant difference was detected in serum vitamin D between these 2 groups (P=0.72). In addition, no statistically significant difference was detected between women with vitamin D deficiency and women who were vitamin D insufficient (P=0.8). Conclusion: In this study, there was no association between serum vitamin D levels and delivery mode.

The lipid accumulation product is a novel, safe and inexpensive index of central lipid over accumulation based on waist circumference and fasting concentration of circulating triglycerides. This study was designed to investigate the ability of lipid accumulation product to predict Cardio-metabolic risk factors in postmenopausal women. In this Cross-sectional study, 264 postmenopausal women by using convenience sampling method were selected from menopause clinic in Tehran. Cardio-metabolic risk factors were measured, and lipid accumulation product (waist-58×triglycerides [nmol/L]) was calculated. Optimal cut-off point of lipid accumulation product for predicting metabolic syndrome was estimated by ROC (Receiver-operating characteristic) curve analysis. Metabolic syndrome was diagnosed in 41.2% of subjects. Optimal cut-off point of lipid accumulation product for predicting metabolic syndrome was 47.63 (sensitivity:75%; specificity:77.9%). High lipid accumulation product increases risk of all Cardio-metabolic risk factors except overweight, high Total Cholesterol, high Low Density Lipoprotein Cholesterol and high Fasting Blood Sugar in postmenopausal women. Our findings show that lipid accumulation product is associated with metabolic syndrome and some Cardio-metabolic risk factors Also lipid accumulation product may have been a useful tool for predicting cardiovascular disease and metabolic syndrome risk in postmenopausal women.

Vitamin D deficiency is the most under-diagnosed medical condition in postmenopausal women. There are few epidemiologic studies on vitamin D status of postmenopausal women in Iran. This study aimed to investigate the 25-hydroxyvitamin D levels in postmenopausal women living in Tehran, capital of Iran. In this cross sectional study, 110 women were selected via convenience sampling method from menopause clinic of Tehran Women General Hospital between 2011 and 2012. For each woman, a questionnaire was completed, and 25-hydroxyvitamin D levels were determined by chemiluminescence's immunoassay. Vitamin D deficiency has been considered as a 25(OH)D of less than 20ng/ml. Vitamin D insufficiency has been defined as a 25(OH)D of 21-29ng/ml, and sufficiency as a 25(OH)D of 30-100ng/ml. The data was analyzed by using Pearson correlation test in SPSS version 16. The mean age of women was 52.67±5 years. The mean age at natural menopause onset was 47.66±4.44 years, and the median menopause age was 49.00. The median 25(OH)D level was 19.28 (Inter Quartile Range=26.08). We found vitamin D deficiency and vitamin D insufficiency 52.7% and17.3% respectively. Serum 25(OH) D concentrations were significantly correlated with age(r=0.21, P=0.024). These findings indicate that 25(OH)D level in postmenopausal women from Tehran is low. There is a statistically significant positive correlation between vitamin D concentration and age in late postmenopausal period.

Objective: The aim of this study was to determine the symptoms associated with menopause among women referred to menopause clinic of Tehran Women General Hospital. Materials and methods: In this cross sectional study which has been done between January 2011 and January 2012, in menopause clinic of Tehran Women's General Hospital 134 women were studied. For each woman a questionnaire was completed. The data gained from each questionnaire were analyzed using SPSS version 13. Results: The mean age of natural menopause onset was 47.35 (SE=0.11) year. The symptoms associated with menopause were hot flushes (59.5%), mood swing (42.6%), vaginal dryness (41.1%) sleep problems (40.4%), night sweats (38.2%), memory loss (32.3%), urinary symptoms (18.3%), palpitation (6.6%), anxiety (5.8%), Joint and muscle pain (59.9%), depression (4.4%), Irritability (3.6%).. Conclusion: This study showed that hot flushes, mood swing and vaginal dryness were the most common symptoms associated with menopause.

Background: Vitamin D plays an important role in neurodegenerative disorders as a crucial neuro-immunomodulator. Accumulating data provide evidences that vitamin D receptor (VDR) gene is a candidate gene for susceptibility to Parkinson’s disease (PD). Aim: To find out whether the risk of the development of sporadic PD might be influenced by VDR gene polymorphisms in an Iranian population or not. Subjects and methods: A genetic study was conducted to investigate the relationship between VDR gene polymorphisms and the severity of PD. Fifty-nine PD patients and 53 matched-healthy controls were genotyped using polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) analysis. For this purpose, four single nucleotide polymorphisms (SNPs) in VDR gene including FokI T > C (rs 10735810), BsmI A > G (rs 1544410), ApaI A > C (rs 7975232), and TaqI C > T (rs 731236) have been evaluated. Results: Our genotyping studies revealed that holding ApaI a allele and FokI f allele could significantly increase the risk of developing Parkinson’s disease 1.85 and 2.46 times, respectively (p = 0.023 and 0.008). Moreover, Aa heterozygous of ApaI also shows a significantly elevated risk of developing PD when compared to AA homozygous (OR = 7.44, p = 0.005). For BsmI and TaqI polymorphisms, no significant difference in genotype or allele distribution was found between PD patients and the controls. Moreover, in this study, no significant association was found between different genotypes and Hoehn & Yahr staging and Unified Parkinson Disease Rating Stage (UPDRS) rating scale. Conclusion: This study demonstrates a possible association between the VDR FokI and ApaI polymorphism and PD, indicating that VDR polymorphisms may change genetic susceptibility to sporadic PD in the Iranian population.

Abstract Background: Vitamin D was recognized with protective effects on nerve cells of Parkinson’s patients. The relationship between several VDR gene polymorphisms and age and risk of the disease was determined. Also, the relationship between VDR gene FOKI genotypes and PD was specified. The main goal of this study is to evaluate the relationship between polymorphic loci of FokI, TaqI, BsmI, ApaI and serum factor related to vitamin D metabolism in Isfahan population. Materials and Methods: Case- control study of 125 Parkinson’s patients with their matched control individuals has been investigated based on Parkinson's disease brain bank criteria of Great Britain. After receiving consent, serum levels were measured. The genetic material was isolated by Miller protocol and polymorphisms has been analyzed and confirmed by repeated PCR-RFLP. Results: Comparing the five serum factors between healthy subjects and patients with Parkinson's disease, we have shown a significant reduction in the levels of calcium, ALP and PTH (p

مقدمه: ارتباط ویتامین D و بیماری پارکینسون به خوبی مشخص شده است. این ویتامین از طریق گیرنده‌ی ویتامین D (Vitamin D receptor یا VDR) عمل می‌کند. ژن گیرنده‌ی ویتامین D دارای پلی‌مورفیسم کدون آغازین است که توسط آنزیم محدود کننده‌ی FokI شناسایی می‌شود. بعضی از مطالعات با اشاره به ارتباط بین FokI و پارکینسون، نشان داده‌اند که این پلی‌مورفیسم، عملکرد گیرنده‌ی ویتامین D را تغییر می‌دهد. هدف از این مطالعه، شناسایی ارتباط بین پلی‌مورفیسم FokI در ژن گیرنده‌ی ویتامین D و بروز پارکینسون و ژنوتیپ‌های به دست آمده در بیماران مبتلا به پارکینسون اسپورادیک و فامیلیال بود. روش‌ها: در بخش اسپورادیک این مطالعه‌ی مورد- شاهدی، نمونه‌ی خون از 60 نفر بیمار مبتلا به پارکینسون از منطقه‌ای در جنوب غرب اصفهان و 62 نفر افراد سالم از همان منطقه جمع‌آوری شد. همچنی،ن در بررسی فرم فامیلیال پارکینسون، 6 نمونه‌ی مورد و 7 نمونه‌ی شاهد از یک خانواده ارزیابی گردید. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) به منظور ارزیابی ژنوتیپ‌ها انجام گرفت. همچنین، عوامل سرمی بیماران و افراد سالم شجره، مانند OHD25 (Hydroxyvitamin D-25)، هورمون پاراتیروئید، کلسیم، فسفر و آلکالین فسفاتاز مورد سنجش قرار گرفت. یافته‌ها: در بخش اسپورادیک، از 60 بیمار، فراوان‌ترین ژنوتیپ FF (7/51 درصد) و در گروه شاهد Ff (6/51 درصد) بود. حفاظت در مقابل پیشرفت پارکینسون زمانی که آلل F وجود داشته باشد، مشاهده شد، اما معنی‌دار نبود (290/0 = P). از سوی دیگر، استعداد ابتلا به پارکینسون با آلل f ارتباط نشان داد، اما معنی‌دار نبود (390/0 = P). در خانواده‌ی مورد مطالعه، مشخص شد که آلل f قادر است تا 4 برابر نرخ بروز بیماری پارکینسون را در این شجره افزایش دهد، اما این ارتباط معنی‌دار نبود (220/0 = P)؛ به طوری که افراد با ژنوتیپ ff، 7/2 برابر بیشتر به بیماری پارکینسون مبتلا شدند (450/0 = P). بیماران با ژنوتیپ ff نسبت به بیماران با ژنوتیپ FF، سطوح سرمی بالاتری از آلکالین فسفاتاز، پاراتورمون و ویتامین D را نشان دادند، اما این ارتباط‌ها معنی‌دار نبودند. نتیجه‌گیری: یافته‌های این مطالعه تنها در پلی‌مورفیسم FokI متمرکز شد؛ بنابراین تجزیه و تحلیل سایر انواع پلی‌مورفیسم در ژن گیرنده‌ی ویتامین D، مانند ApaI، TaqI و BsmI، برای به دست آوردن استراتژی‌های مناسب‌تر برای درمان پارکینسون لازم است. همچنین، معنی‌دار نبودن ارتباط‌ها، ممکن است به دلیل کوچک بودن شجره و تعداد کم داده‌ها باشد.