AURKC Gene Polymorphism (rs58264281) Associated with Idiopathic Male Infertility Risk in Northeast of Iran: A Case-Control Study

Background: Infertility is a major public health and social problem in human reproduction that is known as a multifactorial complex disorder. Genetic background and mutations and single nucleotide polymorphisms (SNPs) on the genes involved in sperm development are the important causes of male infertility. Objectives: In this study, we evaluated the association of AURKC gene polymorphism (rs58264281) and idiopathic male infertility in the Iranian Azeri population. Methods: This study was performed among 100 men with idiopathic infertility (case group) and 100 healthy men with successful fertility (control group) from East Azerbaijan, Iran. Genomic DNA extraction was carried out from peripheral blood samples by the proteinase K method. Genotype analysis was conducted by the tetra-primer amplification refractory mutation system-polymerase chain reaction (Tetra-ARMS PCR). SPSS version 21 was used for the analysis of the obtained data. Results: We observed that the CA and AA genotypes were significantly increased in patients with infertility as compared to healthy controls. Our results demonstrated that the mutant allele of AURKC gene polymorphism (rs58264281) was a significant risk factor in male infertility. Conclusions: We suggested a significant correlation between the AURKC gene rs58264281 polymorphism and male infertility in the Iranian Azeri population. However, further studies are required among other ethnicities, races, and geographic areas with larger sample sizes.

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Role of Kisspeptin Gene Polymorphism in Idiopathic Male Infertility in Iraq

Iraqi Journal of Science ◽

10.24996/ijs.2021.62.10.1 ◽

2021 ◽

pp. 3428-3435

Author(s):

Firas Kareem Al-Kalabi ◽

Adnan F Al-Azzawie ◽

Estabraq AR. Al-Wasiti

Keyword(s):

Male Infertility ◽

Semen Quality ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Idiopathic Male Infertility ◽

Polymerase Chain ◽

Infertile Group ◽

Control Study

This case control study aimed to determine single nucleotide polymorphisms (SNPs) in the Kisspeptin (KISS1) gene in males with idiopathic infertility and their association with sex hormones and semen quality. The study included a total of 60 infertile and 30 healthy fertile males. Our results show that the level of the measured hormones (LH, FSH, Testosterone, Prolactin and Kisspeptin-54) were higher in the control group than in the male infertile group at p<0.05. We used polymerase chain reaction restriction fragment length polymorphism (PCR-RELP) for the genotyping of KISS1 position rs35431622 (Q36R) KISS1, which showed three different genotypes of different sizes; a wild-type homozygous AA of 233 bp and a heterozygous AG that has digestion products of 233, 161, and 72 bp. The AG was more frequent in the patients group which also had high OR value of G allele (3.105). While for the rs4889 (C/G(, there was a correlation between the CC genotype and the patients group, but it was non-significant. Patients had an OR value of 2.5 for the CC genotype with 95% CI: 0.21 – 29.26, whereas the OR value for the C allele was 1.14 with 95% CI: 0.613 – 2.135. In conclusion, variations in SNPs of the KISS1 gene may be considered as a risk factor for idiopathic male infertility in Iraqi population.

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Evaluation of Vitamin D-Binding Protein Gene Polymorphism and its Plasma Concentration in Kurdish Patients With Breast Cancer in Sanandaj, Iran

Avicenna Journal of Medical Biochemistry ◽

10.34172/ajmb.2020.13 ◽

2020 ◽

Vol 8 (2) ◽

pp. 89-93

Author(s):

Roya Moloudinia ◽

Gelavij Mahmoodi ◽

Mohammad Abdi ◽

Sabrieh Amini ◽

Shirin Ferdowsi

Keyword(s):

Breast Cancer ◽

Vitamin D ◽

Gene Polymorphism ◽

Binding Protein ◽

Plasma Concentrations ◽

Significant Risk ◽

Enzyme Linked Immunosorbent Assay ◽

Control Group ◽

Case Group ◽

Vitamin D Binding Protein

Background: Several studies have indicated that polymorphism in vitamin D pathway genes is associated with breast cancer (BC) risk. Vitamin D-binding protein (VDBP) is a vital element in the metabolism of the vitamin D. VDBP carries the serum 25(OH) D3 to cells to promote vitamin D biological functions, such as cell proliferation and apoptosis. Missense SNP (rs.7041) is a common polymorphism in VDBP gene, which shows ethnic-specific allele frequencies. Objectives: This study presents the correlation of the rs7041 (Asp432Glu) gene polymorphism and plasma concentrations of VDBP in Kurdish patients with BC in Sanandaj, Iran. Methods: This cross-sectional study included 44 premenopausal BC patients and 44 healthy subjects. Plasma VDBP concentration was measured by enzyme-linked immunosorbent assay (ELISA). The VDBP (rs7041) was genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). Results: VDBP level was associated with a non-significant risk of BC (P=0.397). Frequencies of individuals with VDBP (rs7041) TT, TG, and GG genotypes were 13.6%, 52.2%, and 34.09% in case group and 11.3%, 79.5%, and 9.9% in control group, respectively. Genotype GG associated with increased susceptibility to developing BC (odds ratio [OR]=5.172, CI: 1.555-17.2, P=0.007). There was a significant reverse correlation between GT genotype and BC (OR=0.282, 95% CI: 0.110-0.722, P=0.008) Conclusion: The changes in the vitamin D pathway may increase susceptibility to develop BC in the Iranian Kurdish population.

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Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility

Journal of Assisted Reproduction and Genetics ◽

10.1007/s10815-021-02199-w ◽

2021 ◽

Author(s):

Fatina W. Dahadhah ◽

Mayyas Saleh Jaweesh ◽

Mazhar Salim Al Zoubi ◽

Manal Issam Abu Alarjah ◽

Mohamad Eid Hammadeh ◽

...

Keyword(s):

Mitochondrial Dna ◽

Male Infertility ◽

Semen Analysis ◽

Control Group ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Genotype Frequencies ◽

Study Population ◽

The Relationship ◽

Sanger Method

Abstract Purpose The purpose of the present study was to determine the relationship between infertility and the polymorphisms of mitochondrial NADH dehydrogenase subunit 4 (MTND4) by spermatozoa analysis in fertile and subfertile men. Methods Samples were divided into 68 subfertile men (case group) and 44 fertile men (control group). After semen analysis, samples were purified. The whole genome was extracted using a QIAamp DNA Mini Kit and the mitochondrial DNA was amplified by using the REPLI-g Mitochondrial DNA Kit. Polymerase chain reaction (PCR) was used to amplify the MT-ND4 gene. Then, samples were purified and sequenced using the Sanger method. Results Twenty-five single-nucleotide polymorphisms (SNPs) were identified in the MTND4 gene. The genotype frequencies of the study population showed a statistically significant association between rs2853495 G>A (Gly320Gly) and male infertility (P = 0.0351). Similarly, the allele frequency test showed that rs2853495 G>A (Gly320Gly) and rs869096886 A>G (Leu164Leu) were significantly associated with male infertility (adjusted OR = 2.616, 95% CI = 1.374–4.983, P = 0.002; adjusted OR = 2.237, 95% CI = 1.245–4.017, P = 0.007, respectively). Conclusion In conclusion, our findings suggested that male infertility was correlated with rs2853495 and rs869096886 SNPs in MTND4.

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Relationship between ADAMTS14/rs4747096 gene polymorphism and knee osteoarthritis in Chinese population

Bioscience Reports ◽

10.1042/bsr20181413 ◽

2018 ◽

Vol 38 (5) ◽

Cited By ~ 2

Author(s):

Sen Ma ◽

Cheng Ouyang ◽

Shuxin Ren

Keyword(s):

Gene Polymorphism ◽

Knee Osteoarthritis ◽

Chinese Han Population ◽

Control Group ◽

Case Group ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

Genotype Frequencies

To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case–control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy–Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39–2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01–4.75), AG (OR = 2.55, 95%CI: 1.64–3.96), and GG/AG (OR = 1.57, 95%CI: 1.19–2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

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Risk factors for the failure to achieve normal albumin serum levels after albumin transfusion in neonates

Paediatrica Indonesiana ◽

10.14238/pi56.3.2016.129-33 ◽

2016 ◽

Vol 56 (3) ◽

pp. 129

Author(s):

Nadya Arafuri ◽

Pudjo Hagung Widjajanto ◽

Ekawaty L. Haksari

Keyword(s):

Risk Factors ◽

Critical Illness ◽

Very Low Birth Weight ◽

Significant Risk ◽

Albumin Level ◽

Control Group ◽

Case Group ◽

Severe Bleeding ◽

Normal Albumin ◽

Neonatal Ward

Background Albumin transfusion for the treatment of neonatal hypoalbuminemia may reduce morbidity. In conditions with disrupted endothelial integrity (e.g., sepsis and critical illness), the administered albumin may leak into the interstitial space, hence, serum albumin levels may fall below expected levels after transfusion. To date, few studies have been done to evaluate the risk factors for failure to achieve normal neonatal albumin levels after transfusion.Objectives To determine the risk factors for failure to achieve normal neonatal albumin levels after transfusion.Methods We performed a case-control study in the Neonatal Ward of Dr. Sardjito Hospital from 2007 to 2012. Normal albumin level was defined as above 3 g/dL. The case group included neonates with post-transfusion albumin levels <3 g/dL and the control group included those with post-transfusion albumin ≥3 g/dL. Subjects received intravenous transfusions of 25% or 20% albumin according to the clinical standard of the Neonatal Ward of Dr. Sardjito Hospital. Neonates with very low birth weight, severe birth trauma, burn injuries, severe bleeding, or incomplete medical records were excluded. The data were analyzed with logistic regression test.Results From January 2007 to December 2012, 124 neonates were enrolled in the study. Multivariate analysis showed that low albumin levels before transfusion (OR 12.27; 95%CI 2.17 to 69.30), presence of critical illness (OR 4.01; 95%CI 1.49 to 10.79), diagnosis of sepsis (OR 3.56; 95%CI 1.36 to 9.32), and the >24-hour interval between albumin examination and transfusion (OR 0.06; 95%CI 0.01 to 0.37) were significant risk factors affecting the failure to achieve normal albumin levels.Conclusions Failure to achieve normal albumin levels after transfusion in neonates was significantly associated with low albumin level prior to transfusion, critical illness, sepsis, and >24-hour interval between transfusion and post-transfusion albumin examination.[Paediatr Indones. 2016;56:129-33.].

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Association of Hypertriglycerideamia with Ischaemic Stroke

Bangladesh Journal of Neuroscience ◽

10.3329/bjn.v32i1.57411 ◽

2016 ◽

Vol 32 (1) ◽

pp. 34-38

Author(s):

Biplob Kumar Das ◽

Kanak Jyoti Mondal

Keyword(s):

Risk Factors ◽

Logistic Regression ◽

Ischaemic Stroke ◽

Significant Risk ◽

Serum Triglyceride ◽

Control Group ◽

Case Group ◽

Stepwise Logistic Regression ◽

Serum Triglyceride Level ◽

Analysis Model

Stroke is one of the foremost causes of morbidity, mortality and is a socioeconomic challenge. This is particularly true for developing countries like Bangladesh, where health support system including the rehabilitation system is not within the reach of common people. Hypertriglycerademia has an effective influence in the pathogenesis of Ischaemic Stroke (IS). So, the focus of this study was to evaluate and assess the association of serum triglyceride level in patients of IS. This case control study was carried out in the Department of Neurology in collaboration with Department of Biochemistry, BSMMU, Dhaka from July 2011 to June 2013. In this study, 60 diagnosed cases of ischaemic stroke patients and 60 age and sex matched healthy controls were enrolled. Risk factors of Ischemic Stroke (IS) patients were assessed ( adjusted Odds Ratio) in comparison with healthy adults. In this study, being married [OR. 1.95, 95% CI (0.40-9.42), p=0.409] , smoker [OR.1.65, 95% CI (0.57 - 4.82),p= 0.357], DM [OR. 1.48, 95% CI (0.36-6.06), p=0.582 ], IHD [OR. 1.51, 95% CI (0.29 – 7.89), p=0.624] , HTN [OR. 3.66, 95% CI (1.11–12.12), p=0.033] , overweight [OR.2.31, 95% CI (0.77 – 6.91), 0.135] and obesity [OR. 16.19, 95% CI (1.31–200.6), p=0.030] , increased level of serum TC [OR.8.24, 95% CI (2.07 – 32.83), p=0.003], TG [OR. 9.40, 95% CI (1.17 -75.86), p=0.035], LDL [OR. 0.45, 95% CI (0.10–2.05), p=0.308],and decreased level of HDL [OR. 3.37, 95% CI (1.03 - 12.25), p=0.045] were found as risk factors in developing IS. Independent t-test was done to find out the statistically significant differences of continuous variables like serum lipid profile between case and control group. The mean (SD) value of TG which is focus of this study, was found 237.67 (61.74) in case group, and 169.97 (26.95) in control group which was highly statistically significant (p < 0.0001). All of the significant variables were entered into stepwise logistic regression analysis model. From the logistic regression model, it can be finally concluded that hypertension, obesity, increased level of TC, increased level of TG and decreased level of HDL were statistically significant risk factors for development of IS. Bangladesh Journal of Neuroscience 2016; Vol. 32 (1): 34-38

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Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women

Clinical and Experimental Reproductive Medicine ◽

10.5653/cerm.2020.03706 ◽

2021 ◽

Vol 48 (1) ◽

pp. 69-79

Author(s):

Amer Mahmoud Sindiani ◽

Osamah Batiha ◽

Esra’a Al-zoubi ◽

Sara Khadrawi ◽

Ghadeer Alsoukhni ◽

...

Keyword(s):

Single Nucleotide Polymorphisms ◽

Statistical Significance ◽

Ovarian Response ◽

Control Group ◽

P Value ◽

Case Group ◽

Nucleotide Polymorphisms ◽

Poor Ovarian Response ◽

Single Nucleotide ◽

Number Of Patients

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART.Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing.Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively).Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.

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Identification and Analysis of Children Developmental Dysphasia Factors in Karawang

Journal of Child Science ◽

10.1055/s-0039-1688806 ◽

2019 ◽

Vol 09 (01) ◽

pp. e24-e28

Author(s):

Hadi Sudarjat ◽

Mally Sholih ◽

Ahsanal Kasasiah

Keyword(s):

Multivariate Regression ◽

Developmental Disorders ◽

Significant Risk ◽

Data Retrieval ◽

Febrile Seizures ◽

Survey Method ◽

Control Group ◽

Case Group ◽

Cross Sectional ◽

Language Difficulties

AbstractSome children fail to develop language skills for obvious reasons. The inability is usually seen due to difficulties in producing and understanding spoken language, lack of intelligence, or other developmental disorders. This usually causes difficulties in reading and writing; in many cases, language difficulties continue until adolescence. This research was conducted from May to June 2018 at Dewi Sri Karawang Hospital and in the Karawang community. This study aims to determine the correlation between factors such as family history, child's gender, febrile seizures, exposure to TV/gadget, and mother's occupation, with children developmental dysphasia in Karawang. This study uses an analytical survey method with a cross-sectional approach. Data retrieval was performed by interviewing parents of pediatric patients diagnosed with dysphasia as the case group and parents of children in the Karawang area as the control group. The data obtained were processed using the multivariate regression statistical method. The results showed that heat seizures, excessive multimedia exposure (more than 1 hour per day), and identified hereditary causes were significant risk factors for dysphasia in children aged 1 to 6 years in Karawang, with p-values less than 0.05.

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Risk factors for mortality in children with Wilms tumor

Paediatrica Indonesiana ◽

10.14238/pi56.4.2016.226-9 ◽

2016 ◽

Vol 56 (4) ◽

pp. 226

Author(s):

Yuni Purwanti ◽

Sutaryo Sutaryo ◽

Sri Mulatsih ◽

Pungky Ardani Kusuma

Keyword(s):

Risk Factors ◽

Risk Factor ◽

Wilms Tumor ◽

Significant Risk ◽

Significant Risk Factor ◽

Stage Iii ◽

Control Group ◽

Case Group ◽

Chi Square ◽

Potential Risk Factors

Background Wilms tumor is the most common renal malignancy in children (95%) and one of the leading causes of death in children, with high mortality rates in developing countries. Identifying risk factors for mortality is important in order to provide early intervention to improve cure rates.Objective To identify risk factors for mortality in children with Wilms tumor.Methods We performed a case-control study of children (0-18 years of age) with Wilms tumor admitted to Dr. Sardjito Hospital between 2005 and 2012. The case group consisted of children who died of Wilms tumor, whereas the control group were children who survived. Data were collected from medical records. Statistical analyses using Chi-square and logistic regression tests were done to determine odds ratios and 95% CI of the potential risk factors for mortality from Wilms tumor.Results Thirty-five children with Wilms tumor were admitted to Dr. Sardjito Hospital during the study period. Nine (26%) children died and 26 survived. Stage ≥III was a significant risk factor for mortality in chidren with Wilms tumor (OR 62.8; 95%CI 5.6 to 70.5). Age ≥2 years (OR 1.4; 95%CI 0.1 to 14.3) and male sex (OR 1.2; 95%CI 0.1 to 10.8) were not significant risk factors for mortality.Conclusion Stage ≥III is a risk factor for mortality in children with Wilms tumor.

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