An association study between INSR/Nsii [rs2059806] and INSR/Pmll [rs1799817] SNPs in women with polycystic ovary syndrome from west azerbaijan province, Iran

It has been demonstrated that insulin signaling pathway related genes have important roles in poly cystic ovary syndrome [PCOS] risk. The goal of present investigation was to assess the potential association between INSR/Nsil[rs2059806] and INSR/Pmll [rs1799817] SNPs and PCOS. 50 women with PCOS and 47 normal controls entered the study. Nsil and Pmll SNPs in the INSR gene were determined by RFLP-PCR. 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/ Pmll [rs 1799817] SNPs resulted in three genotypes of CC, CT, and TT with C and T alleles. The frequencies of Pmll [rs 1799817] 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 Pmll [rs 1799817] 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. The present study as the first investigation of its own kind in Iranian Azeri Turkish women, reported no association between Nsil [rs2059806] and Pmll [rs 1799817] 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

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. In this study, 200 alleles from general population were studied by PCR. 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]. 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

Vitamin D receptor Taqi gene variant in exon 9 and polycystic ovary syndrome risk

Polycystic ovary syndrome [PCOS] is known as a metabolic disorder. The results of recent studies implied that vitamin D receptor [VDR] genetic variants may impact PCOS and insulin resistance in women with PCOS. The aim of the present study was to determine the VDR TaqI gene variant in exon 9 [T/C] [rs731236] in normal controls and patients with PCOS for the first time in Iranian Azeri women. In this case control study between April 2011 and June 2012, a total of 76 women aged 18-40 years [38 patients with PCOS and 38 healthy women as normal controls] participated. Genotypes of VDR TaqI in exon 9 [T/C] [rs731236] were determined using the PCR-RFLP method. The frequencies of VDR TaqI T anc C alleles were 0.605 and 0.395 in cases and 0.697 and 0.303 in controls. Also, the genotypic frequencies of VDR TaqI were 16] [42.11], 14[36.84], and 8[21.05] in cases, and 17[44.74], 19[50], and 2[5.26] in controls for TT, TC and CC genotypes respectively. There was no difference in genotype and allele frequencies between PCOS and controls [p value>0.05] with the exception of the CC genotype [p value=0.04]. This report, a first of its own kind in Iranian Azeri patients, suggests that the CC genotype of VDR TaqI in exon 9 [rs731236] is associated with PCOS

[Predictive value of peak systolic velocity of cavernous artery in diagnosis of arterial insufficiency in erectile dysfunction]

Arterial insufficiency is a well-recognized etiology of erectile dysfunction. Moreover, nowadays it is appreciated that it can herald silent coronary artery disease in involved patients. However color Doppler study of penis with intracavernosal injection [ICI] of Papaverin, as a helpful diagnostic study, is somehow time consuming and technically demanding, as a result, radiologists are reluctant to accomplish. Hence, in a search for more plausible parameters, we were determined to validate PSV in flaccid state for predicting possible arterial insufficiency in patients. In a cross sectional study to evaluate diagnostic tests, accomplished in Hasheminejad Urology center in Tehran throughout 2011, we studied 59 patients with the complaint of erectile dysfunction. They were referred to our ultrasound clinics by urologists in order to undergo color Doppler study of penis by ICI of Papaverin. They were studied comprehensively before and after injection. Primary and secondary diagnostic criteria of arterial disease in color Doppler and consequently the physiologic event of full erection were designated as gold standard diagnostic considerations. The resulted data were matched and analyzed with SPSS software. Fifty nine patients underwent the study, with the mean age of 45.6 +/- 13.1 [24 to 74 year old]. Twenty two cases revealed normal study [non-organic causes as 37.3%], 29 were classified as venous leakage, and eight of them demonstrate arterial insufficiency in the study. A flaccid state PSV of 10.5 cm/s as cut off had a sensitivity of 93.8%, specifity of 91.3% and negative predictive value of 93.8% to predict arterial disease. A flaccid state PSV of 10.5 has a suitable statistical value to proclaim arterial insufficiency in cavernosal arteries in patients with erectile dysfunction as a complaint

[Peak systolic velocity of cavernosal artery of the penis before and after papaverine injection in erectile dysfunction]

Sexual dysfunction in males is characterized by the inability to achieve or maintain an erection sufficient for a satisfactory sexual activity. Erectile dysfunction is a common disorder in males and intracavernosal injection of papaverine followed by color Doppler ultrasonography of the penis is used to diagnose and treat vascular impotence. In this study, we examined the relationship between changes in peak systolic velocity [PSV] and erectile dysfunction with vascular cause after a cavernosal injection of papaverin. We performed this self-controlled clinical trial in Shahid Hasheminejad Hospital in Tehran, Iran during 2010 and 2011. The study population consisted of 90 patients with erectile dysfunction. The peak systolic velocity [PSV] of cavernosal arteries was evaluated before and after injection of 40-80 mg papaverine and it was compared in the patients with and without response to injection. The mean age of participants was 47.7 +/- 13.7 years. Response to papaverine injection was positive in 41[45.5%] patients. The mean PSV values were 14.68 +/- 5.65 and 53.74 +/- 18.8 cm/s before and after the injection, respectively [P<0.001]. A PSV cut-off point of 10 cm/s was determined for the condition before injection. The sensitivity and specificity of the value for diagnosis of arterial erectile dysfunction were calclulated as 50% and 100%, respectively. A PSV cut-off point of 10 cm/s in flaccid status before papaverine injection has a low sensitivity but high specificity for the diagnosis of arterial erectile dysfunction. Future studies with sufficient cases of arterial erectile dysfunction are necessary for final judgments and suggestion a new cut off point

Angiotensin-converting enzyme insertion/deletion gene polymorphism in general population of west Azarbaijan, Iran

Angiotensin-converting enzyme [ACE] gene polymorphisms have been studied in different ethnic populations. We assessed the ACE gene insertion/deletion alleles frequencies and genotype distributions in a group of individuals from among the general population of west Azarbaijan, Iran, in order to determine the prevalence of deletion/deletion [D/D], deletion/insertion [D/I] and insertion/insertion [I/I] genotypes. In a cross-sectional study, 167 healthy individuals were enrolled in a randomized fashion. They were selected from the general population of west Azerbaijan, Iran. Polymerase chain reaction was carried out to determine the ACE D/D, D/I and I/I genotypes. The ACE alleles were D and I in 59.7% and 40.3% of the women, 59.3% and 40.7% of the men and 59.6% and 40.4% of all of the participants, respectively. The D/D, D/I, and I/I genotypes were observed in 22 [40.7%], 20 [37%], and 12 [22.2%] men, 41 [36.3%], 53 [46.9%], and 19 [16.8%] women, and 63 [37.7%], 73 [43.7%], and 31 [18.6%] participants, respectively. Statistical analysis showed that differences in ACE D and I alleles and genotype frequencies were not significant between the men and the women. In this study on the general population of west Azarbaijan, the frequencies of the ACE D and I alleles were 59.6% and 40.4%. The ACE D/D, D/I and I/I genotypes were seen in 37.7%, 43.7%, and 18.6% of the studied population, respectively

IFN-gamma +874 and IL-4 -590 polymorphisms and asthma susceptibility in North West of Iran

Recent studies have documented an association between some cytokines' gene polymorphisms and chronic inflammation of the respiratory tract which leads to asthma susceptibility. This study was conducted to investigate if there were any differences in IFN-gamma +874 [A/T] and IL-4 -590 [C/T] single nucleotide variations in asthmatic patients compared to normal controls among West Azerbaijani population. IFN-gamma +874 [A/T] and IL-4 -590 [C/T] polymorphisms were amplified by ASO-PCR and RFLP-PCR from genomic DNA of 173 individuals including 64 asthmatic patients and 109 control subjects from West Azerbaijani population. The allele or genotype frequencies of IFN-gamma+874 A/T in patients were not different from those of controls [p>0.05]. The differences between allelic or genotypic frequencies of IL-4 -590 C/T in patients and controls were not statistically significant [p>0.05]. These findings showed that IL-4 -590 [C/T] and IFN-gamma+874 [A/T] polymorphisms were not associated with asthma susceptibility

Association of interleukin-10, interferon-gamma, transforming growth factor-beta, and tumor necrosis factor-alpha gene polymorphisms with long-term kidney allograft survival

Single nucleotide polymorphisms within promoter or other regulatory sequences of cytokine genes mainly influence the level of production and secretion of proteins. A large amount of evidence has shown that cytokine gene variations alter graft survival length after kidney transplantation. We studied the association of gene polymorphisms in the interlekin-10 gene [IL10;-1082 G/A], interferon-gamma gene [IFNG; +874 T/A], transforming growth factor-beta gene [TGFB; +869 T/C], and tumor necrosis factor-alpha gene [TNFA;-308 A/G] with kidney allograft survival. The IL10 [-1082 G/A], IFNG [+874 T/A], TGFB [+869 T/C], and TNFA [-308 A/G] genotypes were determined in 32 kidney allograft recipients with graft rejection during the 1st posttransplant year and 52 without rejection in 5 posttransplant years, using allele-specific oligonucleotides-polymerase chain reaction method. The IFNG +874 A/T genotype showed a significantly higher frequency among kidney recipients of the rejection group than the control group [odds ratio, 2.64, 95% confidence interval, 1.03 to 6.74; P=.04]. Comparisons between the rejection and control groups in IL10 [-1082 G/A], IFNG [+874 T/A], TGFB [+869 T/C], and TNFA [-308 A/G] single nucleotide polymorphisms showed no significant difference. Based on the finding of this study, it seems polymorphisms in the genes that regulate IL-10, IFN-gamma, TGF-beta, and TNF-alpha cytokines do not play a major role in kidney allograft survival, and other potential factors in this regard should be considered

Association of CCR5-59029 A/G and CCR2-V64I variants with renal allograft survival

Despite advances in the medical care of renal transplant recipients which have led to an improvement in allograft survival, renal allograft rejection is still a major obstacle to successful organ transplantation. Understanding the mechanisms contributing to allograft rejection will be of great importance for the development of efficient antirejection strategies. The aim of current investigation was to study the impact of polymorphisms of CCR5 delta 32, CCR5- 59029 A/G and CCR2-V64I on renal allograft survival. Using PCR and PCR-RFLP methods in 84 renal transplant recipients, the influence of CCR5 delta 32, CCR5- 59029 A/G and CCR2-V64I polymorphisms on renal allograft survival in two rejector and non-rejector groups were examined. Rejector group was defined as having rejection before 1 year and non-rejector group had stable graft function at least for 5 years. Significant reductions were found in the risk of renal transplant rejection in recipients possessing the CCR2-64I [A] allele [p=0.03] or 59029-A allele [p=0.03] compared to non-rejector group. There were no significant differences in the frequency of CCR5 DELTA 32 polymorphism in rejector group compared to non-rejector group [p>0.05]. It was possible to conclude that the chemokine receptors CCR2-V64I [A] and CCR5- 59029 A alleles may influence renal allograft survival

Th1 and Th2 cytokine gene polymorphism in Iranian patients with chronic myelogenous leukemia

Bakground: lt has been hypothesized that genetic factors other than histocompatibility disparity may play a role in predisposition to developing Chronic Myelogenous Leukemia [CML]. In this regard, Thl and Th2 cytokines and their gene polymorphism seems to be important. Overall expression and secretion of cytokines is dependent, at least in part, on genetic polymorphism [nucleotide variations] within the promoter region or other regulatory sequences of cytokine genes. The majority of polymorphisms described are single nucleotide polymorphism [SNPs]. The objective of this study was to analyze the genetic profile of Thl and Th2 cytokines in 30 Iranian patients with CML and 40 healthy subjects

Methods: In the patients and control subjects, the allelic and genotype frequencies were determined for the cytokine genes. All typing were performed by PCR-SSP assay. Allele and genotype frequencies were calculated and compared with those of normal controls

Results: The results showed that the most frequent alleles in our patients were TGF-3 TG/TG, IL-4 T at position -1089, C at position -590, T at position -33 and IL-10 A at position -1082. Whereas the following alleles - TGF-3 CG/CG and IL-10 C at position -592 - were seen in much lower frequencies

Conclusion: In conclusion, it could be suggested that the frequency of high producing TGF-3 alleles and low producing IL-4 and IL-10 alleles in the CML patients is higher than the normal subjects