Vous trouverez ci-après le tiréà part de votre article au formatélectronique (pdf) : Angiotensin ... more Vous trouverez ci-après le tiréà part de votre article au formatélectronique (pdf) : Angiotensin converting enzyme (ACE) gene polymorphism in vitiligo: protective and predisposing effects of genotypes in disease susceptibility and progression paru dans
International journal of pharma and bio sciences, 2015
CYP19A1 gene encodes an aromatase enzyme that mediates the conversion of androgens to estrogens a... more CYP19A1 gene encodes an aromatase enzyme that mediates the conversion of androgens to estrogens and appears to play a crucial role in the pathophysiology of Polycystic Ovary Syndrome (PCOS), a heterogeneous metabolic disorder that affects 4 - 12% women worldwide. We investigated the impact of an exonic, rs700519 and two intronic, rs2414096, rs60271534 variants of CYP19A1 gene by recruiting 506 subjects that include PCOS patients and non-PCOS controls from South India. The results indicate that all the three gene variants are associated significantly with disease susceptibility (p<0.05). However, multiple logistic regression analysis revealed a strong association of exonic variant (Arg264Cys) with the disease which was further supported by Multifactor Dimensionality Reduction analysis and In silico studies. Women with haplotype block A-C-L was observed to be in elevated frequency in non-PCOS group suggesting a significant protection against the disease. We conclude that women carr...
Proteins are biopolymers made up of one or more long chains of amino acid residues. These protein... more Proteins are biopolymers made up of one or more long chains of amino acid residues. These proteins mediate thousands of metabolic pathways that determine how an organism functions. When proteins are thoroughly investigated, they can provide information about health and disease. A variety of methods have been developed to quantify both complex protein mixtures for total protein content as well as a single type of protein. This manuscript covers the methodologies standardized in our lab based on previously published protocols, beginning with the isolation of peripheral blood mononuclear cells (PBMCs) from human blood samples, cell viability testing, cell counting, total protein extraction methods, and protein quantification and estimation techniques, which enable a researcher to find the protocol from PBMCs to Western blot in a single manuscript.
Biomedical and Biotechnology Research Journal (BBRJ)
Background: Asthma is a chronic obstructive airway disease, associated with an altered leukocyte ... more Background: Asthma is a chronic obstructive airway disease, associated with an altered leukocyte population in the airways as well as in blood circulation with dysregulated immune responses. Limited studies are available that suggest the role of neutrophils and their derived markers in asthma severity, however, no reports exist on the combined effect. Methods: To examine these markers’ individual and combined influence, we recruited a total of 92 individuals, 60 asthmatics (30 mild and 30 moderate) and 32 nonasthmatic healthy controls from South India. Absolute neutrophil count (ANC) and neutrophil‑to‑lymphocyte ratio (NLR) were obtained from the complete blood count, and serum neutrophil elastase (sNE) was estimated through ELISA. Results: A significant variation in the means of ANC, NLR, and sNE was observed between asthma patients and healthy controls, whereas mild and moderate asthmatics demonstrated the difference in only neutrophil derivates (NLR and sNE). The receiver operating characteristic curve analysis revealed NLR as an excellent diagnostic marker (area under the curve [AUC] = 0.79, cutoff = 1.51, Sn = 95, Sp = 65.53, P = 0.0001), whereas sNE has an excellent diagnostic and prognostic capacity (AUC = 0.92, cutoff = 14.27, Sn = 81.67, Sp = 90.63, P = 0.0001 and AUC = 0.86, cutoff = 18.82, Sen = 80, Spe = 83.33, P = 0.0001). No correlation was noted between NLR and sNE, signifying their independent control on asthma severity. The additive influence of NLR and sNE was noted when analyzed together in a Combination of NLR and sNE (CNN). CNN‑1 score exhibited a 5‑fold and CNN‑2 19‑fold increased risk of asthma severity. Conclusion: Based on the present findings, it appears that CNN may emerge as a single predictive marker in asthma prognosis. This is the first study of its kind projecting the potentiality of CNN that needs to be tested in a large cohort as the limitation of the current study is the sample size.
Introduction: Microsatellites undergo mutations at a very high rate ranging from 10-6 to 10-2 per... more Introduction: Microsatellites undergo mutations at a very high rate ranging from 10-6 to 10-2 per generation, called as Microsatallite Instability (MSI). Such mutations are commonly caused by the loss of DNA mismatch repair (MMR). In the present study we analyzed the frequency of Microsatellite Instability in the Hypervariable regions (HVR1 and HVR2) of Mitochorial D loop segments which the noncoding control region of human mitochondrial DNA (mtDNA) in Juvenile Myoclonic Epilepsy (JME) patients from South Indian population. Mitochondrial genetic changes at hotspots are considered as a core molecular step of mutations in various types of epilepsy and cancers. Objective: To analyze hypervariable region 1 and 2 (HV1 and HV2) of mtDNA D-loop region and to establish a new mutation database of mtDNA in South Indian population. Materials and Method: Thirty five Juvenile Myoclonic Epilepsy patients were investigated from three states of south India. Genomic DNA was extracted and Polymerase ...
Industrial pollution is one of the major causes of environmental concern. Increasing urbanization... more Industrial pollution is one of the major causes of environmental concern. Increasing urbanization is leading to merging of residential localities with industrial locations, thus exposing the individuals to the hazards of industrial environment. Systematic assessment of the effect of industrial pollution on the health and survival of residents certainly goes a long way in monitoring the pollutants and bringing out mitigative measures by the authorities. The present study was taken up with the objective of assessing the effect of industrial pollution on the growth, health and genome of the children living near the industrial area. School survey and health camps were conducted at Balanagar, which is an industrial area, and Lingampally, which is away from industries. Data were collected from 4,288 children, which comprised their height, weight, body mass index, chest expansion difference, health problems and samples to conduct genotoxicity test. The results reveal that growth parameters...
Preeclampsia (PE), a pregnancy specific vascular disorder which is characterized by hypertension ... more Preeclampsia (PE), a pregnancy specific vascular disorder which is characterized by hypertension and proteinuria is a leading cause of maternal, fetal/neonatal morbidity and mortality affecting 5-14% of pregnancies. PE is a multifactorial disorder associated with poor placentation, placental hypoxia, poor angiogenesis and excessive maternal inflammation. Adrenomedullin (ADM) is a multifunctional peptide, plays an important role in the establishment and maintenance of healthy pregnancy, prevents an immune attack at peri-implantation period, vasodilation and promotes angiogenesis. In the present study, we enrolled a total of 600 subjects which includes 300 PE patients and 300 healthy pregnant women from South India to analyse two functional polymorphisms (rs4399321A/G and rs4910118C/T) of ADM gene. The genotype frequencies of these two polymorphisms differed significantly between the PE and control groups (p=0.02 and p=0.03). Individuals carrying the AA genotype of rs4399321A/G were s...
We studied and compared the efficiency of induction aneurysm in apo E mice by using high fat diet... more We studied and compared the efficiency of induction aneurysm in apo E mice by using high fat diet and Ang II. Aneurysm induced in 6 week old male apo E -/- mice by subcutaneous release of Ang II injection for 45 days. Also, aneurysm was induced in three month old male apo E by administration of high fat diet for a period of three months. No difference in body weight in Ang II treated mice. But, increase in body weight and mean arterial blood pressure observed in high fat diet group animals. Highly significant increase in total cholesterol, TG, LDL and significant decrease in HDL level were observed in Ang II treated animals. Significant increase in total cholesterol, but no changes in TG, LDL, HDL levels were observed in high fat diet group. Higher percentage of circulating monocytes was observed in ang II treated group but more number of circulating lymphocytes were observed in high fat diet group in FACS analysis. In histopathology, intimal layer of abdominal aorta was completely replaced by chronic inflammatory cells particularly macrophages (80%) which appeared as foam cells and lymphocytes (20%) in ang II treated animals. Degradation of elastin, infiltration of lymphocytes, chondrocytes and cellular migration towards media were observed in the abdominal aorta of high fat diet group. Real time analysis and immunofluorescence assay supports over expression of Vcam 1 Icam1, MCP 1and MMP2 genes were observed in Ang II treated animals. In immunofluorescence assay, over expression of Mac 3 protein specific for macrophages was observed in abdominal aorta of ang II treated animals, but over expression of CD45.1 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp; 45.2 proteins specific to lymphocytes were observed in high fat diet group. Based on our observations, Ang II induced aortic aneurysm by recruiting/ proliferating circulating monocytes by up regulating Icam-1, Vcam -1 and MCP-1. Also, ang II involved in degradation of elastin in the abdominal aorta by up regulation of MMP2 to promote agranulocytes migration in the intimal layers. Epithelial cell hyperplasia with accumulation of fatty fluids (cyst) was observed in seminal vesicle and ventral prostate of high fat treated animals. Fatty degeneration, germ cell apoptosis and infiltration giant cells were observed in the testes of high fat diet group. As per available literature these observations were not reported with high fat diet treatments with apo E models. High fat diet induced aneurysm prominently in abdominal, thoracic aorta and extensive plaque formation was observed in femoral and renal arteries. Administration of high fat diet containing cholesterol induced aneurysm in apo E mice model also efficient method to rule out the pathogenesis of aortic aneurysm when compared with angiotensin.
Background: Pesticides play an important role in controlling the pests on agricultural crops and ... more Background: Pesticides play an important role in controlling the pests on agricultural crops and thereby to increase the yield of agricultural produce. Farmers occupationally exposed to pesticides during spraying activities are more prone to genotoxicity than unexposed. Aim: To assess the genotoxicity in farmers, engaged in spraying complex mixture of pesticides in the cultivation of cotton crops. Material and methods: A total number of 152 male subjects were selected randomly from Guntur district of Andhra Pradesh (AP), South India. The demographic particulars viz., personal habits, duration of exposure to pesticides, types of pesticides used were collected from the study subjects using an interview schedule. Among them 76 subjects were farmers and the remaining individuals served as unexposed or controls. Blood samples from these subjects were collected for assessing the genetic damage by chromosomal aberrations (CAs) test and micronucleus test (MNT). Results: The results of the s...
Journal of Assisted Reproduction and Genetics, 2013
but exacerbated the homozygous and recessive effects (Or 1.59, p = 0.09). the subgroups based on ... more but exacerbated the homozygous and recessive effects (Or 1.59, p = 0.09). the subgroups based on geography showed increased risk associations, consistently significant in the european (Or 1.52-2.72, p = 0.0008-0.03) but not in the Brazilian studies, where Ors ranged from reduced (Or 0.70-0.74, p = 0.54-0.61) to increased (Or 1.11, p = 0.75) risks. Heterogeneity was confined in all comparisons to the dominant and co-dominant models (I 2 = 38-70 %), except in the european subgroup, which had zero heterogeneity (I 2 = 0 %) in all genetic models, as did all homozygous and recessive effects. Conclusion this meta-analysis provides a comprehensive profile of the role of the PROGINS polymorphism in endometriosis by exploring the magnitude of the summary effects with modifier analysis. this magnitude is expressed with modulation or exacerbation of the summary effects, as defined by the parameters of the analysis. thus, the results showed trend towards an increased risk of the variant PROGINS allele and susceptibility for the endometriosis.
The present study was intended to investigate the role of MTHFR gene functional polymorphisms, rs... more The present study was intended to investigate the role of MTHFR gene functional polymorphisms, rs1801133 (C677T) and rs1801131 (A1298C) in the susceptibility and severity of Recurrent Pregnancy Losses (RPLs) in women with low socio-economic status among Asian Indians. We screened a total of 221 women that includes 102 RPL patients and 119 healthy controls. Following DNA isolation from whole blood, PCR-RFLP (Polymerase Chain Reaction- Restriction Fragment Length Polymorphism) was carried out for genotyping the selected polymorphisms. Distribution of allele, genotype frequencies and Hardy-Weinberg equilibrium of patient and control groups were analyzed using statistical tools. Results exhibited that women with CC genotype of rs1801131 polymorphism were at 2.5 fold risk towards RPL. With respect to rs1801133 polymorphism we found no significant association with RPL. However, stratified data based on the number of pregnancy losses (≤ 3 and >3) showed that patients with CT genotype at...
Problem: Fork Head Box Protein 3 (FOXP3) is an X‐linked gene, codes for a master transcription re... more Problem: Fork Head Box Protein 3 (FOXP3) is an X‐linked gene, codes for a master transcription regulatory protein that controls the development and function of immunosuppressive T regulatory (Treg) cells. They are crucial mediators of maternal foetal tolerance and successful pregnancy outcome. The aim of the study is to evaluate the association of FOXP3 rs3761548 functional polymorphism and to assess the serum concentrations of full‐length FOXP3 protein in Unexplained Recurrent Spontaneous Abortions (URSA) patients of Southern India.
Vous trouverez ci-après le tiréà part de votre article au formatélectronique (pdf) : Angiotensin ... more Vous trouverez ci-après le tiréà part de votre article au formatélectronique (pdf) : Angiotensin converting enzyme (ACE) gene polymorphism in vitiligo: protective and predisposing effects of genotypes in disease susceptibility and progression paru dans
International journal of pharma and bio sciences, 2015
CYP19A1 gene encodes an aromatase enzyme that mediates the conversion of androgens to estrogens a... more CYP19A1 gene encodes an aromatase enzyme that mediates the conversion of androgens to estrogens and appears to play a crucial role in the pathophysiology of Polycystic Ovary Syndrome (PCOS), a heterogeneous metabolic disorder that affects 4 - 12% women worldwide. We investigated the impact of an exonic, rs700519 and two intronic, rs2414096, rs60271534 variants of CYP19A1 gene by recruiting 506 subjects that include PCOS patients and non-PCOS controls from South India. The results indicate that all the three gene variants are associated significantly with disease susceptibility (p<0.05). However, multiple logistic regression analysis revealed a strong association of exonic variant (Arg264Cys) with the disease which was further supported by Multifactor Dimensionality Reduction analysis and In silico studies. Women with haplotype block A-C-L was observed to be in elevated frequency in non-PCOS group suggesting a significant protection against the disease. We conclude that women carr...
Proteins are biopolymers made up of one or more long chains of amino acid residues. These protein... more Proteins are biopolymers made up of one or more long chains of amino acid residues. These proteins mediate thousands of metabolic pathways that determine how an organism functions. When proteins are thoroughly investigated, they can provide information about health and disease. A variety of methods have been developed to quantify both complex protein mixtures for total protein content as well as a single type of protein. This manuscript covers the methodologies standardized in our lab based on previously published protocols, beginning with the isolation of peripheral blood mononuclear cells (PBMCs) from human blood samples, cell viability testing, cell counting, total protein extraction methods, and protein quantification and estimation techniques, which enable a researcher to find the protocol from PBMCs to Western blot in a single manuscript.
Biomedical and Biotechnology Research Journal (BBRJ)
Background: Asthma is a chronic obstructive airway disease, associated with an altered leukocyte ... more Background: Asthma is a chronic obstructive airway disease, associated with an altered leukocyte population in the airways as well as in blood circulation with dysregulated immune responses. Limited studies are available that suggest the role of neutrophils and their derived markers in asthma severity, however, no reports exist on the combined effect. Methods: To examine these markers’ individual and combined influence, we recruited a total of 92 individuals, 60 asthmatics (30 mild and 30 moderate) and 32 nonasthmatic healthy controls from South India. Absolute neutrophil count (ANC) and neutrophil‑to‑lymphocyte ratio (NLR) were obtained from the complete blood count, and serum neutrophil elastase (sNE) was estimated through ELISA. Results: A significant variation in the means of ANC, NLR, and sNE was observed between asthma patients and healthy controls, whereas mild and moderate asthmatics demonstrated the difference in only neutrophil derivates (NLR and sNE). The receiver operating characteristic curve analysis revealed NLR as an excellent diagnostic marker (area under the curve [AUC] = 0.79, cutoff = 1.51, Sn = 95, Sp = 65.53, P = 0.0001), whereas sNE has an excellent diagnostic and prognostic capacity (AUC = 0.92, cutoff = 14.27, Sn = 81.67, Sp = 90.63, P = 0.0001 and AUC = 0.86, cutoff = 18.82, Sen = 80, Spe = 83.33, P = 0.0001). No correlation was noted between NLR and sNE, signifying their independent control on asthma severity. The additive influence of NLR and sNE was noted when analyzed together in a Combination of NLR and sNE (CNN). CNN‑1 score exhibited a 5‑fold and CNN‑2 19‑fold increased risk of asthma severity. Conclusion: Based on the present findings, it appears that CNN may emerge as a single predictive marker in asthma prognosis. This is the first study of its kind projecting the potentiality of CNN that needs to be tested in a large cohort as the limitation of the current study is the sample size.
Introduction: Microsatellites undergo mutations at a very high rate ranging from 10-6 to 10-2 per... more Introduction: Microsatellites undergo mutations at a very high rate ranging from 10-6 to 10-2 per generation, called as Microsatallite Instability (MSI). Such mutations are commonly caused by the loss of DNA mismatch repair (MMR). In the present study we analyzed the frequency of Microsatellite Instability in the Hypervariable regions (HVR1 and HVR2) of Mitochorial D loop segments which the noncoding control region of human mitochondrial DNA (mtDNA) in Juvenile Myoclonic Epilepsy (JME) patients from South Indian population. Mitochondrial genetic changes at hotspots are considered as a core molecular step of mutations in various types of epilepsy and cancers. Objective: To analyze hypervariable region 1 and 2 (HV1 and HV2) of mtDNA D-loop region and to establish a new mutation database of mtDNA in South Indian population. Materials and Method: Thirty five Juvenile Myoclonic Epilepsy patients were investigated from three states of south India. Genomic DNA was extracted and Polymerase ...
Industrial pollution is one of the major causes of environmental concern. Increasing urbanization... more Industrial pollution is one of the major causes of environmental concern. Increasing urbanization is leading to merging of residential localities with industrial locations, thus exposing the individuals to the hazards of industrial environment. Systematic assessment of the effect of industrial pollution on the health and survival of residents certainly goes a long way in monitoring the pollutants and bringing out mitigative measures by the authorities. The present study was taken up with the objective of assessing the effect of industrial pollution on the growth, health and genome of the children living near the industrial area. School survey and health camps were conducted at Balanagar, which is an industrial area, and Lingampally, which is away from industries. Data were collected from 4,288 children, which comprised their height, weight, body mass index, chest expansion difference, health problems and samples to conduct genotoxicity test. The results reveal that growth parameters...
Preeclampsia (PE), a pregnancy specific vascular disorder which is characterized by hypertension ... more Preeclampsia (PE), a pregnancy specific vascular disorder which is characterized by hypertension and proteinuria is a leading cause of maternal, fetal/neonatal morbidity and mortality affecting 5-14% of pregnancies. PE is a multifactorial disorder associated with poor placentation, placental hypoxia, poor angiogenesis and excessive maternal inflammation. Adrenomedullin (ADM) is a multifunctional peptide, plays an important role in the establishment and maintenance of healthy pregnancy, prevents an immune attack at peri-implantation period, vasodilation and promotes angiogenesis. In the present study, we enrolled a total of 600 subjects which includes 300 PE patients and 300 healthy pregnant women from South India to analyse two functional polymorphisms (rs4399321A/G and rs4910118C/T) of ADM gene. The genotype frequencies of these two polymorphisms differed significantly between the PE and control groups (p=0.02 and p=0.03). Individuals carrying the AA genotype of rs4399321A/G were s...
We studied and compared the efficiency of induction aneurysm in apo E mice by using high fat diet... more We studied and compared the efficiency of induction aneurysm in apo E mice by using high fat diet and Ang II. Aneurysm induced in 6 week old male apo E -/- mice by subcutaneous release of Ang II injection for 45 days. Also, aneurysm was induced in three month old male apo E by administration of high fat diet for a period of three months. No difference in body weight in Ang II treated mice. But, increase in body weight and mean arterial blood pressure observed in high fat diet group animals. Highly significant increase in total cholesterol, TG, LDL and significant decrease in HDL level were observed in Ang II treated animals. Significant increase in total cholesterol, but no changes in TG, LDL, HDL levels were observed in high fat diet group. Higher percentage of circulating monocytes was observed in ang II treated group but more number of circulating lymphocytes were observed in high fat diet group in FACS analysis. In histopathology, intimal layer of abdominal aorta was completely replaced by chronic inflammatory cells particularly macrophages (80%) which appeared as foam cells and lymphocytes (20%) in ang II treated animals. Degradation of elastin, infiltration of lymphocytes, chondrocytes and cellular migration towards media were observed in the abdominal aorta of high fat diet group. Real time analysis and immunofluorescence assay supports over expression of Vcam 1 Icam1, MCP 1and MMP2 genes were observed in Ang II treated animals. In immunofluorescence assay, over expression of Mac 3 protein specific for macrophages was observed in abdominal aorta of ang II treated animals, but over expression of CD45.1 &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp; 45.2 proteins specific to lymphocytes were observed in high fat diet group. Based on our observations, Ang II induced aortic aneurysm by recruiting/ proliferating circulating monocytes by up regulating Icam-1, Vcam -1 and MCP-1. Also, ang II involved in degradation of elastin in the abdominal aorta by up regulation of MMP2 to promote agranulocytes migration in the intimal layers. Epithelial cell hyperplasia with accumulation of fatty fluids (cyst) was observed in seminal vesicle and ventral prostate of high fat treated animals. Fatty degeneration, germ cell apoptosis and infiltration giant cells were observed in the testes of high fat diet group. As per available literature these observations were not reported with high fat diet treatments with apo E models. High fat diet induced aneurysm prominently in abdominal, thoracic aorta and extensive plaque formation was observed in femoral and renal arteries. Administration of high fat diet containing cholesterol induced aneurysm in apo E mice model also efficient method to rule out the pathogenesis of aortic aneurysm when compared with angiotensin.
Background: Pesticides play an important role in controlling the pests on agricultural crops and ... more Background: Pesticides play an important role in controlling the pests on agricultural crops and thereby to increase the yield of agricultural produce. Farmers occupationally exposed to pesticides during spraying activities are more prone to genotoxicity than unexposed. Aim: To assess the genotoxicity in farmers, engaged in spraying complex mixture of pesticides in the cultivation of cotton crops. Material and methods: A total number of 152 male subjects were selected randomly from Guntur district of Andhra Pradesh (AP), South India. The demographic particulars viz., personal habits, duration of exposure to pesticides, types of pesticides used were collected from the study subjects using an interview schedule. Among them 76 subjects were farmers and the remaining individuals served as unexposed or controls. Blood samples from these subjects were collected for assessing the genetic damage by chromosomal aberrations (CAs) test and micronucleus test (MNT). Results: The results of the s...
Journal of Assisted Reproduction and Genetics, 2013
but exacerbated the homozygous and recessive effects (Or 1.59, p = 0.09). the subgroups based on ... more but exacerbated the homozygous and recessive effects (Or 1.59, p = 0.09). the subgroups based on geography showed increased risk associations, consistently significant in the european (Or 1.52-2.72, p = 0.0008-0.03) but not in the Brazilian studies, where Ors ranged from reduced (Or 0.70-0.74, p = 0.54-0.61) to increased (Or 1.11, p = 0.75) risks. Heterogeneity was confined in all comparisons to the dominant and co-dominant models (I 2 = 38-70 %), except in the european subgroup, which had zero heterogeneity (I 2 = 0 %) in all genetic models, as did all homozygous and recessive effects. Conclusion this meta-analysis provides a comprehensive profile of the role of the PROGINS polymorphism in endometriosis by exploring the magnitude of the summary effects with modifier analysis. this magnitude is expressed with modulation or exacerbation of the summary effects, as defined by the parameters of the analysis. thus, the results showed trend towards an increased risk of the variant PROGINS allele and susceptibility for the endometriosis.
The present study was intended to investigate the role of MTHFR gene functional polymorphisms, rs... more The present study was intended to investigate the role of MTHFR gene functional polymorphisms, rs1801133 (C677T) and rs1801131 (A1298C) in the susceptibility and severity of Recurrent Pregnancy Losses (RPLs) in women with low socio-economic status among Asian Indians. We screened a total of 221 women that includes 102 RPL patients and 119 healthy controls. Following DNA isolation from whole blood, PCR-RFLP (Polymerase Chain Reaction- Restriction Fragment Length Polymorphism) was carried out for genotyping the selected polymorphisms. Distribution of allele, genotype frequencies and Hardy-Weinberg equilibrium of patient and control groups were analyzed using statistical tools. Results exhibited that women with CC genotype of rs1801131 polymorphism were at 2.5 fold risk towards RPL. With respect to rs1801133 polymorphism we found no significant association with RPL. However, stratified data based on the number of pregnancy losses (≤ 3 and >3) showed that patients with CT genotype at...
Problem: Fork Head Box Protein 3 (FOXP3) is an X‐linked gene, codes for a master transcription re... more Problem: Fork Head Box Protein 3 (FOXP3) is an X‐linked gene, codes for a master transcription regulatory protein that controls the development and function of immunosuppressive T regulatory (Treg) cells. They are crucial mediators of maternal foetal tolerance and successful pregnancy outcome. The aim of the study is to evaluate the association of FOXP3 rs3761548 functional polymorphism and to assess the serum concentrations of full‐length FOXP3 protein in Unexplained Recurrent Spontaneous Abortions (URSA) patients of Southern India.
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