scholarly journals Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development

2021 ◽  
Vol 62 (10) ◽  
pp. 16
Author(s):  
Annechien E. G. Haarman ◽  
Clair A. Enthoven ◽  
Milly S. Tedja ◽  
Jan R. Polling ◽  
J. Willem L. Tideman ◽  
...  
Keyword(s):  
Risk Genotype

Joint Effect of ABCA7 rs4147929 and Body Mass Index on Progression from Mild Cognitive Impairment to Alzheimer’s Disease: The Shanghai Aging Study

2020 ◽  
Vol 17 (2) ◽  
pp. 185-195
Author(s):  
Jianxiong Xi ◽  
Ding Ding ◽  
Qianhua Zhao ◽  
Xiaoniu Liang ◽  
Li Zheng ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Body Mass Index ◽  
Cognitive Impairment ◽  
Mild Cognitive Impairment ◽  
Body Mass ◽  
Joint Effect ◽  
Genome Wide Association Studies ◽  
Risk Genotype ◽  
Aging Study

Background: Approximately 40 independent Single Nucleotide Polymorphisms (SNPs) have been associated with Alzheimer’s Disease (AD) or cognitive decline in genome-wide association studies. Methods: We aimed to evaluate the joint effect of genetic polymorphisms and environmental factors on the progression from Mild Cognitive Impairment (MCI) to AD (MCI-AD progression) in a Chinese community cohort. Conclusion: Demographic, DNA and incident AD diagnosis data were derived from the follow-up of 316 participants with MCI at baseline of the Shanghai Aging Study. The associations of 40 SNPs and environmental predictors with MCI-AD progression were assessed using the Kaplan-Meier method with the log-rank test and Cox regression model. Results: Rs4147929 at ATP-binding cassette family A member 7 (ABCA7) (AG/AA vs. GG, hazard ratio [HR] = 2.43, 95% confidence interval [CI] 1.24-4.76) and body mass index (BMI) (overweight vs. non-overweight, HR = 0.41, 95% CI 0.22-0.78) were independent predictors of MCI-AD progression. In the combined analyses, MCI participants with the copresence of non-overweight BMI and the ABCA7 rs4147929 (AG/AA) risk genotype had an approximately 6-fold higher risk of MCI-AD progression than those with an overweight BMI and a non-risk genotype (HR = 6.77, 95% CI 2.60-17.63). However, a nonsignificant result was found when participants carried only one of these two risk factors (nonoverweight BMI and AG/AA of ABCA7 rs4147929). Conclusion: ABCA7 rs4147929 and BMI jointly affect MCI-AD progression. MCI participants with the rs4147929 risk genotype may benefit from maintaining an overweight BMI level with regard to their risk for incident AD.

scholarly journals Fat mass and obesity-associated obesity-risk genotype is associated with lower foetal growth: an effect that is reversed in the offspring of smoking mothers

2011 ◽  
Vol 3 (01) ◽  
pp. 10-20 ◽  
Author(s):  
J. A. Marsh ◽  
C. E. Pennell ◽  
N. M. Warrington ◽  
D. Mook-Kanamori ◽  
L. Briollais ◽  
...  
Keyword(s):  
Fat Mass ◽  
Obesity Risk ◽  
Risk Genotype ◽  
Foetal Growth

Late Breaking Abstract - Enhanced IL-33 response in differentiated human TH2 cells carrying the IL-1RL1 asthma risk genotype

2021 ◽  
Author(s):  
Akshaya Keerthi Saikumar Jayalatha ◽  
Laura Hesse ◽  
Marlies Ketelaar ◽  
Maarten Van Den Berge ◽  
Victor Gurvey ◽  
...  
Keyword(s):  
Th2 Cells ◽  
Risk Genotype ◽  
Asthma Risk

scholarly journals Relationship between CAD Risk Genotype in the Chromosome 9p21 Locus and Gene Expression. Identification of Eight New ANRIL Splice Variants

PLoS ONE ◽  
2009 ◽  
Vol 4 (11) ◽  
pp. e7677 ◽  
Author(s):  
Lasse Folkersen ◽  
Theodosios Kyriakou ◽  
Anuj Goel ◽  
John Peden ◽  
Anders Mälarstig ◽  
...  
Keyword(s):  
Gene Expression ◽  
Splice Variants ◽  
Chromosome 9P21 ◽  
Risk Genotype ◽  
9P21 Locus ◽  
Cad Risk

scholarly journals APOL1 Genotype and Renal Function of Black Living Donors

2018 ◽  
Vol 29 (4) ◽  
pp. 1309-1316 ◽  
Author(s):  
Mona D. Doshi ◽  
Mariella Ortigosa-Goggins ◽  
Amit X. Garg ◽  
Lihua Li ◽  
Emilio D. Poggio ◽  
...  
Keyword(s):  
Renal Function ◽  
High Risk ◽  
Confidence Interval ◽  
Kidney Donors ◽  
Living Kidney Donors ◽  
Risk Genotype ◽  
Risk Alleles ◽  
Lower Egfr ◽  
Developing Kidney ◽  
Egfr Decline

Black living kidney donors are at higher risk of developing kidney disease than white donors. We examined the effect of the APOL1 high-risk genotype on postdonation renal function in black living kidney donors and evaluated whether this genotype alters the association between donation and donor outcome. We grouped 136 black living kidney donors as APOL1 high-risk (two risk alleles; n=19; 14%) or low-risk (one or zero risk alleles; n=117; 86%) genotype. Predonation characteristics were similar between groups, except for lower mean±SD baseline eGFR (CKD-EPI equation) in donors with the APOL1 high-risk genotype (98±17 versus 108±20 ml/min per 1.73 m2; P=0.04). At a median of 12 years after donation, donors with the APOL1 high-risk genotype had lower eGFR (57±18 versus 67±15 ml/min per 1.73 m2; P=0.02) and faster decline in eGFR after adjusting for predonation eGFR (1.19; 95% confidence interval, 0 to 2.3 versus 0.4; 95% confidence interval, 0.1 to 0.7 ml/min per 1.73 m2 per year, P=0.02). Two donors developed ESRD; both carried the APOL1 high-risk genotype. In a subgroup of 115 donors matched to 115 nondonors by APOL1 genotype, we did not find a difference between groups in the rate of eGFR decline (P=0.39) or any statistical interaction by APOL1 status (P=0.92). In conclusion, APOL1 high-risk genotype in black living kidney donors associated with greater decline in postdonation kidney function. Trajectory of renal function was similar between donors and nondonors. The association between APOL1 high-risk genotype and poor renal outcomes in kidney donors requires validation in a larger study.

scholarly journals Relationship between Multiple Sclerosis-Associated IL2RA Risk Allele Variants and Circulating T Cell Phenotypes in Healthy Genotype-Selected Controls

Cells ◽  
2019 ◽  
Vol 8 (6) ◽  
pp. 634 ◽  
Author(s):  
Sophie Buhelt ◽  
Helle Bach Søndergaard ◽  
Annette Oturai ◽  
Henrik Ullum ◽  
Marina Rode von Essen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
T Cells ◽  
T Cell ◽  
Cd4 T Cells ◽  
Interleukin 2 ◽  
T Cell Subsets ◽  
Multiparameter Flow Cytometry ◽  
Risk Genotype ◽  
Increased Risk ◽  
New Findings

Single nucleotide polymorphisms (SNPs) in or near the IL2RA gene, that encodes the interleukin-2 (IL-2) receptor α (CD25), are associated with increased risk of immune-mediated diseases including multiple sclerosis (MS). We investigated how the MS-associated IL2RA SNPs rs2104286 and rs11256593 are associated with CD25 expression on T cells ex vivo by multiparameter flow cytometry in paired genotype-selected healthy controls. We observed that MS-associated IL2RA SNPs rs2104286 and rs11256593 are associated with expression of CD25 in CD4+ but not CD8+ T cells. In CD4+ T cells, carriers of the risk genotype had a reduced frequency of CD25+ TFH1 cells (p = 0.001) and an increased frequency of CD25+ recent thymic emigrant cells (p = 0.006). Furthermore, carriers of the risk genotype had a reduced surface expression of CD25 in post-thymic expanded CD4+ T cells (CD31−CD45RA+), CD39+ TReg cells and in several non-follicular memory subsets. Our study found novel associations of MS-associated IL2RA SNPs on expression of CD25 in CD4+ T cell subsets. Insight into the associations of MS-associated IL2RA SNPs, as these new findings provide, offers a better understanding of CD25 variation in the immune system and can lead to new insights into how MS-associated SNPs contribute to development of MS.

scholarly journals High risk genotype distribution of human papillomavirus (HPV) according to age groups in Iranian asymptomatic men

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Mehrdad Davarmanesh ◽  
Seyed Mohammad Jazayeri ◽  
Mehrouz Dezfulian ◽  
Mohammad Javad Gharavi
Keyword(s):  
Human Papillomavirus ◽  
High Risk ◽  
Age Groups ◽  
Genotype Distribution ◽  
Risk Genotype ◽  
Asymptomatic Men

Age and geographic variability of human papillomavirus high-risk genotype distribution in a large unvaccinated population and of vaccination impact on HPV prevalence

2014 ◽  
Vol 60 (3) ◽  
pp. 257-263 ◽  
Author(s):  
Francesca Carozzi ◽  
Laura De Marco ◽  
Anna Gillio-Tos ◽  
Annarosa Del Mistro ◽  
Salvatore Girlando ◽  
...  
Keyword(s):  
Human Papillomavirus ◽  
High Risk ◽  
Genotype Distribution ◽  
Geographic Variability ◽  
Risk Genotype ◽  
Hpv Prevalence
Sign in / Sign up

Export Citation Format

Share Document