ABSTRACT
Background: Infertility is defined as the inability to achieve pregnancy after 12 months of regular unprotected sexual intercourse. Environmental and genetic factors are involved in male infertility. The polymorphism studies have a crucial role in disease recognition. Paraoxonase [PON] is an oxidant enzyme which is associated with inflammation, oxidative stress and lipid metabolism. The present study aimed to evaluate the relationship between PON1 192 Q/R polymorphism and the susceptibility to idiopathic male infertility
Methods: Samples were collected from 220 patients diagnosed with male infertility and 230 controls genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism [PCR-RFLP]
Results: A significant difference in genotype distributions of PON1 192 Q/R polymorphism was observed between patients and controls [p=0.001]. Our findings revealed that individuals with the variant QR had a significant decreased risk of idiopathic male infertility [OR=0.49, 95%CI=0.33-0.73, p=0.0004]. Moreover, analyses showed that R allele may have a protective effect on susceptibility of idiopathic male infertility [OR=0.31, 95%CI=0.21-0.47, p=0.0001]
Conclusion: The data from this study indicates that the PON1 192 Q/R polymorphism is associated with decreased risk of idiopathic male infertility. However, more studies should be considered with larger number of patients and control subjects to confirm our results
ABSTRACT
Background: Infertility is defined as the inability to achieve pregnancy after one year of unprotected intercourse. A large proportion of infertile men fail to impregnate their female counterpart due to lack of sperm [azoospermia] or too little sperm [oligozoospermia]. Infertility may also be due to estrogens, infections, heavy metals, cigarette smoking, reactive oxygen species [ROS] and sperm antibodies. Fas is a member of the TNFR [tumor necrosis factor receptor] family that is widely expressed on the surface of many different kinds of cells. Fas gene is involved in the apoptosis process. The purpose of this study was to evaluate the effect of Fas gene polymorphism in male infertility in a population in north of Iran
Methods: This study involved 132 patients with male infertility and 102 healthy controls. DNA samples were extracted from the peripheral blood and genotyped by RFLP-PCR method. Statistical analysis was performed using MedCalc
Results: The frequencies of AA, AG, GG in patients were 31.81%, 54.54% and 13.63%, respectively and in controls were 45.09%, 47.05%, 7.84%, respectively
Conclusion: It is concluded that there is no significant association between Fas-670A/G gene polymorphism and male infertility [p=0.07]. Further studies with larger numbers of patients are required to elucidate the potential role of Fas gene polymorphism in male infertility
ABSTRACT
Background: Infertility is defined as a lack of conception in a coupIe having unprotectes intercourse, for one year. Despite enormous progresses in the understanding of human reproductive physiology, the underlying causes of male infertility remains undefined in about 50.0% of cases, which are referred to as idiopathic infertility
Human apurinic/apyrimidinic endonuclease [ApEl] is a multifunctional protein that has an important role in the base excision repair [BER] pathway. ApEl -141 T>G polymorphism is located in the promoter region
The aim of this study was to investigate the relation between ApEl -141T>G polymorphism and idiopathic male infertility
Methods: hi this case-control study, Samples were collected from 90 patients diagnosed with idiopathic male infertility and also from 60 control subjects. Collected samples were genotyped by allele-specific PCR [AS-PCR]
Results: There was significantly association between -141TX/] polymorphism and idiopathic male infertility [p=0.022]
Conclusion: The polymorphism 141T>G can be associated with male infertility. However, further studies are needed to confirm the results
Subject(s)
Humans , Male , Polymorphism, Genetic , Reproductive Physiological Phenomena , DNA Repair , Case-Control Studies , Polymerase Chain Reaction , Apolipoproteins EABSTRACT
Autism is a neurodevelopmental disorders that manifests before 3 years of age, more common in boys. Whereas causes of autism remain uncertain, it is influenced by genetic and environmental factors. Recent studies have shown that the genes involved in the folate metabolism pathway may play an important role in autism. Methionine synthase reductase (MTRR) is a key enzyme that plays an important role in the homocysteine/folate metabolism and has been shown to be implicated in neurological disorders including autism. In this study, 356 subjects were studied, which consists of 142 autistic children and 214 nonautistic control. Genomic DNA was extracted from blood samples. Genotype of MTRR 66A>G gene was performed using polymerase chain reaction-allele specific PCR (AS-PCR). The genotype frequencies of AA, AG and GG in the children with autism were 9.9%, 76.0% and 14.1%, respectively and in control group were 13.1%, 86.0% and 0.9%, respectively. The allele frequencies of A, G in the children with autism were 48.0%, 52.0%, respectively and in control group were 56.0%, 44.0%, respectively. Statistical analysis showed that there is a significant correlation in the genotype between two groups (OR=20, 95% CI=4.1 to 98, P<0.001). It is concluded that MTRR A66G polymorphism is associated with autism in a population in northern Iran. More studies with larger number should be done to confirm this result.
Subject(s)
Autistic DisorderABSTRACT
Alzheimer's disease [AD] is the most common cause of dementia in Western countries and in Japan. Numerous blood and cerebrospinal fluid [CSF] tests based on the disease pathology have been proposed for early detection of AD. By comparing the CSF proteome of AD patients and controls it might be possible to identify proteins that play a role in the disease process and thus study the pathogenesis of AD. Samples of CSF from normal [n=20] and AD patients [n=20] were collected by lumbar puncture. The total concentration of proteins in the CSF of normal subjects and AD patients was determined by Bio-Rad protein assay based on the Bradford dye binding procedure. The presence and level of NGF in the CSF of normal and AD patients was measured by enzyme-linked immunosorbent assay [ELISA], SDS-PAGE and western blot. The total protein concentration of all samples was within the normal range [0.10-0.44 g/L]. A western blot analysis using anti-NGF antibody showed the presence of NGF in human CSF. By ELISA, the level of NGF in the CSF of AD patients was higher than in the CSF of normal subjects [81.5 +/- 15.03 pg/mL vs. 4.2 +/- 1.92 pg/mL, P<0.0001]. We suggest that the NGF level in the CSF may provide additional information in the differential diagnosis of Alzheimer's disease. We also conclude that NGF could be significantly involved in the pathophysiology of AD