scholarly journals Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Johanna Lundin ◽  
Ellen Markljung ◽  
Izabella Baranowska Körberg ◽  
Wolfgang Hofmeister ◽  
Jia Cao ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Bladder Exstrophy ◽  
Increased Risk ◽  
22Q11.2 Microduplication

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

2010 ◽  
Vol 53 (2) ◽  
pp. 61-65 ◽  
Author(s):  
Johanna Lundin ◽  
Cilla Söderhäll ◽  
Lina Lundén ◽  
Anna Hammarsjö ◽  
Iréne White ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Bladder Exstrophy ◽  
22Q11.2 Microduplication

Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients

2021 ◽  
Author(s):  
Shuang Zhou ◽  
Zhe Wang ◽  
Zhiyan Liu ◽  
Guangyan Mu ◽  
Qiufen Xie ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Clinical Outcomes ◽  
Chinese Patients ◽  
Test Results ◽  
Repeat Revascularization ◽  
Aggregation Rate ◽  
Stent Restenosis ◽  
Increased Risk ◽  
Genetic Test Results ◽  
In Stent Restenosis

Abstract Purpose Major disadvantages of the percutaneous coronary intervention (PCI) are the high occurrence of repeat revascularization due to restenosis and disease progression. The current study aimed to identify indicators that can predict the risk of repeat revascularization. Methods A total of 143 patients who underwent PCI and had genetic test results were enrolled. We retrospectively reviewed their medical records after the first PCI. P2Y12 reaction units (PRU) test results were obtained by VerifyNow; 372 SNPs of NOS3, MMP3, AGT, and AGT1R gene and 380 genes related to platelet activation-related processes and clopidogrel activity were selected for analysis. Repeat revascularization and in-stent restenosis (ISR) were used as clinical outcomes, and PRU and ADP aggregation rates were used as platelet function outcomes in analysis. Results After the first PCI, the incidence of repeat revascularization at 18, 30, and 42 months was 14.1% (20/142), 17.5% (24/137), and 39.7% (31/78), respectively. In the candidate gene analysis, Rs 78830 (NOS3) was associated with both ADP aggregation rate and 18- and 30-month ISR, and rs 62275847 (AGTR1) was associated with both ADP aggregation rate and 30-month ISR. In the pathway, gene-set analysis, the linkage rs471683 and rs7785386 of GNAI1|GNAT3 were associated with PRU and ADP aggregation rate, 18-months and 30-months ISR, and repeat revascularization within 30 months. Rs1715389 of GNAI1|GNAT3 were associated with both PRU and ADP aggregation rate, 18-months and 30-months ISR, and repeat revascularization within 30 months. Rs7313458 of ITPR2 were associated with PRU and ADP aggregation rate, 18-months and 30-months ISR, and repeat revascularization within 18 months. Conclusions The genetic polymorphisms of rs78830(NOS3), rs62275874 (AGTR1), linkage rs471683 and rs7785386 (GNAI1|GNAT3), rs1715389(GNAI1|GNAT3), and rs7313458 (ITPR2) may lead to an increased risk of in-stent restenosis and revascularization after the first PCI in Chinese patients by affecting the efficacy of clopidogrel. The above six SNP may be used as potential genetic biomarkers for high risk of in-stent restenosis and revascularization after the first PCI in Chinese patients.

scholarly journals Polymorphism in INSR Locus Modifies Risk of Atrial Fibrillation in Patients on Thyroid Hormone Replacement Therapy

2021 ◽  
Vol 12 ◽  
Author(s):  
Enrique Soto-Pedre ◽  
Moneeza K. Siddiqui ◽  
Cyrielle Maroteau ◽  
Adem Y. Dawed ◽  
Alex S. Doney ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Hormone Replacement Therapy ◽  
Thyroid Hormone ◽  
Candidate Gene ◽  
Replacement Therapy ◽  
Hormone Replacement ◽  
Thyroid Hormone Replacement ◽  
Increased Risk ◽  
Thyroid Hormone Replacement Therapy

AimsAtrial fibrillation (AF) is a risk for patients receiving thyroid hormone replacement therapy. No published work has focused on pharmacogenetics relevant to thyroid dysfunction and AF risk. We aimed to assess the effect of L-thyroxine on AF risk stratified by a variation in a candidate gene.Methods and ResultsA retrospective follow-up study was done among European Caucasian patients from the Genetics of Diabetes Audit and Research in Tayside Scotland cohort (Scotland, United Kingdom). Linked data on biochemistry, prescribing, hospital admissions, demographics, and genetic biobank were used to ascertain patients on L-thyroxine and diagnosis of AF. A GWAS-identified insulin receptor-INSR locus (rs4804416) was the candidate gene. Cox survival models and sensitivity analyses by taking competing risk of death into account were used. Replication was performed in additional sample (The Genetics of Scottish Health Research register, GoSHARE), and meta-analyses across the results of the study and replication cohorts were done. We analyzed 962 exposed to L-thyroxine and 5,840 unexposed patients who were rs4804416 genotyped. The rarer G/G genotype was present in 18% of the study population. The total follow-up was up to 20 years, and there was a significant increased AF risk for patients homozygous carriers of the G allele exposed to L-thyroxine (RHR = 2.35, P = 1.6e–02). The adjusted increased risk was highest within the first 3 years of exposure (RHR = 9.10, P = 8.5e–04). Sensitivity analysis yielded similar results. Effects were replicated in GoSHARE (n = 3,190).ConclusionHomozygous G/G genotype at the INSR locus (rs4804416) is associated with an increased risk of AF in patients on L-thyroxine, independent of serum of free thyroxine and thyroid-stimulating hormone serum concentrations.

22q11.2 Microduplication in Two Patients with Bladder Exstrophy and Hearing Impairment

2010 ◽  
Vol 6 ◽  
pp. S20-S21
Author(s):  
Agneta Nordenskjöld ◽  
Johanna Lundin ◽  
Cilla Soderhall ◽  
Lina Lundén ◽  
Anna Hammarsjö ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Bladder Exstrophy ◽  
22Q11.2 Microduplication

scholarly journals Invasive Squamous Carcinoma and Adenocarcinoma of an Unreconstructed Exstrophic Bladder with HPV Infection

2015 ◽  
Vol 9 (2) ◽  
pp. 109-112
Author(s):  
Mesut Altan ◽  
Burak Çıtamak ◽  
Hakan Bahadır Haberal ◽  
Emrullah Söğütdelen ◽  
Ali Cansu Bozaci ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Bladder Cancer ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Bladder Exstrophy ◽  
Squamous Carcinoma ◽  
Hpv Infection ◽  
Squamous Cell Carcinomas ◽  
Early Years ◽  
Increased Risk

Bladder exstrophy is a complex abnormality and is traditionally treated within the early years of life. It is associated with an increased risk of bladder cancer, with 95% of the arising tumors being adenocarcinomas and 3 to 5% being squamous cell carcinomas. HPV infections are also associated with an increased risk of bladder cancer. This case represents a patient with bladder exstrophy that gave rise to coinciding squamous cell carcinoma and adenocarcinoma. Final pathology results showed an infection with HPV. We presented the management of the case and discussed the diagnosis and treatment methods for this patient.

scholarly journals Role of ARHGAP29 nucleotide variants in the etiology of non-syndromic cleft lip with or without cleft palate.

2020 ◽  
Vol 89 (2) ◽  
pp. e414
Author(s):  
Justyna Dąbrowska ◽  
Barbara Biedziak ◽  
Agnieszka Lasota ◽  
Paweł P. Jagodziński ◽  
Adrianna Mostowska
Keyword(s):  
Cleft Palate ◽  
Candidate Gene ◽  
Cleft Lip ◽  
Association Studies ◽  
Missense Variant ◽  
P Value ◽  
Genome Wide Association Studies ◽  
Polish Population ◽  
Increased Risk ◽  
Strong Candidate

Aim. Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common birth defect of complex and heterogeneous aetiology. Genome-wide association studies (GWAS) of nsCL/P have identified an association for the 1p22.1 chromosomal region, in which ARHGAP29 was suggested as a candidate gene. Thus, the current study aimed to determine the contribution of the common and rare ARHGAP29 nucleotide variants to the risk of nsCL/P in the Polish population. Material and Methods. In total,197 common nucleotide variants (SNVs) and 22 missense variants located within the ARHGAP29 locus at chromosome 1p22.1 were genotyped by SNV microarray. The study was conducted in 269 individuals with nsCL/P and 569 healthy individuals. Results. Statistical analysis revealed that 31 common nucleotide variants located at the ARHGAP29 locus were significantly associated with the increased risk of nsCL/P. The strongest individual SNV was rs2391467 with a p-value = 2.49E-06 (OR = 1.64, 95%CI: 1.34–2.02). Besides, one potentially deleterious missense variant (rs140877322, p. Arg348Leu) was identified in a single patient with nsCLP. Conclusion. These findings confirm ARHGAP29 as a strong candidate gene for nsCL/P, with both common and rare nucleotide variants of this gene involved in the aetiology of nsCL/P in the Polish population.

scholarly journals Genetic Variation, Magnesium Sulfate Exposure, and Adverse Neurodevelopmental Outcomes Following Preterm Birth

2018 ◽  
Vol 35 (10) ◽  
pp. 1012-1022 ◽  
Author(s):  
Steven Weiner ◽  
Dwight Rouse ◽  
Brian Mercer ◽  
Uma Reddy ◽  
Jay Iams ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Candidate Gene ◽  
Magnesium Sulfate ◽  
Gene Polymorphisms ◽  
Maternal Education ◽  
Control Analysis ◽  
Neurodevelopmental Outcomes ◽  
Psychomotor Delay ◽  
Vascular Regulation ◽  
Increased Risk

Objective To evaluate the association of magnesium sulfate (MgSO4) exposure and candidate gene polymorphisms with adverse neurodevelopmental outcomes following preterm birth. Study Design We performed a nested case–control analysis of a randomized trial of maternal MgSO4 before anticipated preterm birth for the prevention of cerebral palsy (CP). Cases were children who died within 1 year of life or were survivors with abnormal neurodevelopment at age 2 years. Controls were race- and sex-matched survivors with normal neurodevelopment. We analyzed 45 candidate gene polymorphisms in inflammation, coagulation, and vascular regulation pathways and their association with (1) psychomotor delay, (2) mental delay, (3) CP, and (4) combined outcome of death/CP. Logistic regression analyses, conditional on maternal race and child sex, and adjusted for treatment group, gestational age at birth and maternal education, were performed. Results Four hundred and six subjects, 211 cases and 195 controls, were analyzed. The strongest association was for IL6R (rs 4601580) in which each additional copy of the minor allele was associated with an increased risk of psychomotor delay (adjusted odds ratio 3.3; 95% confidence interval, 1.7–6.5; p < 0.001). Conclusion Candidate gene polymorphisms are associated with death and adverse neurodevelopmental outcomes following preterm birth. MgSO4 may abrogate this genotype association for some loci.

Factors independently associated with increased risk of pain development after ophthalmic surgery

2004 ◽  
Vol 21 (2) ◽  
pp. 101-106
Author(s):  
D. Henzler ◽  
R. Kramer ◽  
U. H. Steinhorst ◽  
S. Piepenbrock ◽  
R. Rossaint ◽  
...  
Keyword(s):  
Ophthalmic Surgery ◽  
Increased Risk
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