scholarly journals KIBRA, MTNR1B, and FKBP5 genotypes are associated with decreased odds of incident delirium in elderly post-surgical patients

2022 ◽  
Vol 12 (1) ◽  
Author(s):  
Mark Terrelonge ◽  
Sara C. LaHue ◽  
Christopher Tang ◽  
Irina Movsesyan ◽  
Clive R. Pullinger ◽  
...  
Keyword(s):  
Older Adults ◽  
Postoperative Delirium ◽  
Case Control Study ◽  
Case Control ◽  
Surgical Patients ◽  
Primary Study ◽  
Diverse Populations ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Control Study

AbstractDespite the association between cognitive impairment and delirium, little is known about whether genetic differences that confer cognitive resilience also confer resistance to delirium. To investigate whether older adults without postoperative delirium, compared with those with postoperative delirium, are more likely to have specific single nucleotide polymorphisms (SNPs) in the FKBP5, KIBRA, KLOTHO, MTNR1B, and SIRT1 genes known to be associated with cognition or delirium. This prospective nested matched exploratory case–control study included 94 older adults who underwent orthopedic surgery and screened for postoperative delirium. Forty-seven subjects had incident delirium, and 47 age-matched controls were not delirious. The primary study outcome was genotype frequency for the five SNPs. Compared with participants with delirium, those without delirium had higher adjusted odds of KIBRA SNP rs17070145 CT/TT [vs. CC; adjusted odds ratio (aOR) 2.80, 95% confidence interval (CI) 1.03, 7.54; p = 0.04] and MTNR1B SNP rs10830963 CG/GG (vs. CC; aOR 4.14, 95% CI 1.36, 12.59; p = 0.01). FKBP5 SNP rs1360780 CT/TT (vs. CC) demonstrated borderline increased adjusted odds of not developing delirium (aOR 2.51, 95% CI 1.00, 7.34; p = 0.05). Our results highlight the relevance of KIBRA, MTNR1B, and FKBP5 in understanding the complex relationship between delirium, cognition, and sleep, which warrant further study in larger, more diverse populations.

scholarly journals Association between CTSS gene polymorphism and the risk of acute atherosclerotic cerebral infarction in Chinese population: a case–control study

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Lian Luo ◽  
Mingli Zhu ◽  
Jiajun Zhou
Keyword(s):  
Cerebral Infarction ◽  
Case Control Study ◽  
Case Control ◽  
Cathepsin S ◽  
Control Group ◽  
Study Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Independent Risk Factors ◽  
Control Study

Objective: To investigate the association between the gene polymorphisms of rs774320676, rs768437857, rs928508030, and rs2275235 loci of Cathepsin S (CTSS) and risk of acute atherosclerotic cerebral infarction. Methods: A total of 315 patients with acute atherosclerotic cerebral infarction (study group) and 220 healthy subjects (control group) were enrolled in the present study. The genetic polymorphism of rs774320676, rs768437857, rs928508030, and rs2275235 loci of CTSS of subjects was analyzed by PCR-Sanger sequencing. Results: The proportion of carriers with mutant T allele at rs774320676 locus and mutant G allele at rs928508030 locus of CTSS in study group was significantly higher than the proportion in control group (P=0.000, adjusted odds ratio (OR) = 1.332, 95% confidence interval (CI) = 1.200–1.460; P<0.001, adjusted OR = 1.185, 95% CI = 1.055–1.314; P=0.002). The T allele at rs774320676 locus and the G allele at rs928508030 locus of CTSS were independent risk factors for acute atherosclerotic cerebral infarction (OR = 2.534, 95% CI = 1.020–4.652, P=0.006; OR = 2.016, 95% CI = 1.031–4.385, P=0.031). Conclusion: The single nucleotide polymorphisms (SNPs) of rs774320676 and rs928508030 of CTSS gene were related with risk for acute atherosclerotic cerebral infarction. The T allele at rs774320676 locus and G allele at rs928508030 locus of CTSS were genetic susceptibility genes of acute atherosclerotic cerebral infarction.

scholarly journals Association of miR-146a, miR-149 and miR-196a2 polymorphisms with neuroblastoma risk in Eastern Chinese population: a three-center case–control study

2019 ◽  
Vol 39 (6) ◽  
Author(s):  
Chunlei Zhou ◽  
Yingzi Tang ◽  
Jinhong Zhu ◽  
Lili He ◽  
Jinghang Li ◽  
...  
Keyword(s):  
Case Control Study ◽  
Cancer Susceptibility ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Ethnic Populations ◽  
Gender And Age ◽  
Sympathetic Nervous ◽  
Control Study ◽  
Common Malignancy

Abstract Neuroblastoma is one of the most common malignancy in childhood, which originates from the developing sympathetic nervous system. Single nucleotide polymorphisms (SNPs) in primary miRNA (pri-miRNA) have shown to associate with cancer susceptibility, including neuroblastoma. Three precursor miRNA (pre-miRNA) SNPs (pre-miR-146a rs2910164, pre-miR-149 rs2292832 and pre-miR-196a2 rs11614913) were found to contribute to pathogenesis of various diseases. Here, to evaluate the association among these three pre-miRNA SNPs and neuroblastoma susceptibility in Eastern Chinese children, we carried out a three-center case–control study involving 312 neuroblastoma cases and 762 healthy controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association of these three polymorphisms with neuroblastoma risk. However, no significant association was observed among these three SNPs and neuroblastoma susceptibility, in either overall or subgroups analysis by tumor sites, gender and age. Further larger studies consisting of diverse ethnic populations are required to clarify the associations among these three pre-miRNAs polymorphisms and neuroblastoma risk.

scholarly journals Candidate single-nucleotide polymorphisms and cerebral palsy: A case-control study

2015 ◽  
Vol 3 (6) ◽  
pp. 849-852
Author(s):  
XIAO-GUANG HE ◽  
QI PENG ◽  
YAN-HUA CHEN ◽  
TING HE ◽  
HUI HUANG ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Control Study

Single nucleotide polymorphisms in androgen-related genes and prostate cancer

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21033-21033 ◽  
Author(s):  
M. Gos ◽  
M. Sadowska ◽  
P. Wiechno ◽  
T. Demkow ◽  
P. Janik
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Case Control Study ◽  
Prostate Cancer Risk ◽  
Case Control ◽  
Polish Population ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hormone Refractory ◽  
Control Study

21033 Background: Single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in androgen metabolism were suggested to influence the individual prostate cancer susceptibility and clinical course of the disease. To examine this correlation in Polish population, we have developed a case-control study to analyze whether SNPs in CYP17 (+34T/C), SRD5A2 (V89L and A49T) and UGT2B15 (D85Y) genes may influence prostate cancer risk. These SNPs were also examined for their correlation with clinical features of prostate cancer at diagnosis and disease progression to hormone-refractory state. Methods: The genomic DNA was extracted from blood samples from 182 men with histologically confirmed prostate cancer and 217 healthy men, randomly chosen from population. SNPs analyses were performed with standard molecular methods. Results: The case-control study has revealed that 85YY and 85DY variants in UGT2B15 were more prevalent among patients (83%) than in the control group (73.3%; p=0.02; OR=1.78). The +34CC genotype in CYP17 was more frequent in patients with distant metastasis (30.4%) than in patients with organ confined (T1/T2) or locally advanced (T3/T4) disease (10.2% and 22.6%, respectively; p<0.05). This variant also correlated with higher PSA level at diagnosis. The 89LL variant in SRD5A2 was more common in patients with poorly differentiated prostate cancer (Gleason >6; 17.8%) than in men with well differentiated tumor (5.4%; p=0.033, OR=3.78). The 85YY variant in UGT2B15 was more prevalent in patients that developed hormone-refractory prostate cancer within two years from the beginning of androgen blockade (47.2% vs 23.3%, p=0.025, OR=2.95). Also the analysis of progression-free survival time on hormonal therapy for D85Y polymorphism yield significant results (p=0.041, Gehan's generalized Wilcoxon test). Conclusions: The D85Y polymorphism in UGT2B15 seems to influence prostate cancer risk in Polish population. The analyzed SNPs also correlated with clinical stage and PSA level at diagnosis (+34T/C in CYP17), tumor histological grade (V89L in SRD5A2) and response to hormonal therapy (D85Y in UGT2B15). No significant financial relationships to disclose.

Investigation of Leptin and its receptor (LEPR) for single nucleotide polymorphisms in colorectal cancer: A case-control study involving 2,306 subjects.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e16100-e16100
Author(s):  
Jing Lin ◽  
Yu Chen ◽  
Bin Lan ◽  
Zeng-qing Guo ◽  
Wei-feng Tang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Case Control Study ◽  
Case Control ◽  
Nucleotide Polymorphisms ◽  
Case Control Studies ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Subgroup Analyses ◽  
Control Study

e16100 Background: Colorectal cancer is a leading cause of cancer deaths, with poor prognosis. Some studies have reported that obesity and overweight are risk factor for the development of CRC. Leptin ( LEP) and its receptor ( LEPR) single nucleotide polymorphisms (SNPs) might regulate energy balance and be implicated in the development of CRC. The aim of this case-control study was to assess the association of LEP rs2167270 G > A, rs7799039 A > G, LEPR rs6588147 G > A, rs1137100 G > A and rs1137101 G > A SNPs with susceptibility to CRC in Eastern Chinese Han population. Methods: 1,003 CRC cases and 1,303 matched controls was compared. Five functional SNPs in LEP and LEPR genes were chosen to evaluate the correlation of these chosen SNPs with CRC susceptibility. We used the SNPscan genotyping assay to genotype LEP and LEPR SNPs. Results: A significantly decreased risk of CRC was found to be associated with the LEPR rs6588147 polymorphism (GA vs. GG: crude P= 0.007 and GA/AA vs. GG: crude P= 0.018). With adjustments for risk factors (e.g. age, gender, drinking, BMI and smoking), these associations were not changed. In subgroup analyses, the association of LEP rs2167270 with a decreased risk of CRC was found in the ≥61 years old subgroup. For LEPR rs1137100, the association of this SNP with an increased susceptibility of CRC was found in the BMI < 24 kg/m2 subgroup. In subgroup analyses for LEPR rs6588147, we identified that this locus also decreased the susceptibility of CRC in the male subgroup, < 61 years old subgroup, never smoking subgroup and never drinking subgroup. For LEPR rs1137101, the relationship of this polymorphism with a decreased susceptibility to CRC was found in the never drinking subgroup. Conclusions: The present study highlights that LEPR rs6588147, rs1137101 and LEP rs2167270 may decrease the risk of CRC. However, LEPR rs1137100 is associated with susceptibility to CRC. Further case-control studies with larger sample sizes should be conducted to validate our findings.

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