scholarly journals Association of VPREB1 Gene Copy Number Variation and Rheumatoid Arthritis Susceptibility

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Muhammad Muaaz Aslam ◽  
Peter John ◽  
Kang-Hsien Fan ◽  
Attya Bhatti ◽  
Eleanor Feingold ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
B Cells ◽  
Copy Number Variation ◽  
Copy Number ◽  
Gene Copy Number ◽  
Total Sample ◽  
Gene Copy ◽  
Pakistani Population ◽  
Gene Copy Number Variation ◽  
Number Variation

Objective. Copy number variation (CNV) is a structural variation in the human genome that has been associated with multiple clinical phenotypes. B cells are important components of rheumatoid arthritis- (RA-) mediated immune response; hence, CNV in the regulators of B cells (such as VPREB1) can influence RA susceptibility. In this study, we aimed to explore the association of CNV in the VPREB1 gene with RA susceptibility in the Pakistani population. Methods. A total of 1,106 subjects (616 RA cases, 490 healthy controls) were selected from three rheumatology centers in Pakistan. VPREB1 CNV was determined using the TaqMan® CN assay (Hs02879734_cn, Applied Biosystems, Foster City, CA, USA), and CNV was estimated by using CopyCaller® (version 2.1; Applied Biosystems, USA) software. Odds ratio (OR) was calculated by logistic regression with sex and age as covariates in R. Results. A significant association between >2 VPREB1 CNV and RA risk was observed with an OR of 3.92 (95% CI: 1.27 - 12.12; p=0.01746) in the total sample. Whereas <2 CNV showed a significantly protective effect against RA risk in women with an OR of 0.48 (95% CI: 0.29-0.79; p=0.00381). Conclusion. CNV>2 of VPREB1 is a risk factor for RA in the total Pakistani population, while CNV<2 is protective in women.

The potential role of VPREB1 gene copy number variation in susceptibility to rheumatoid arthritis

2011 ◽  
Vol 48 (11) ◽  
pp. 1338-1343 ◽  
Author(s):  
Seon-Hee Yim ◽  
Yeun-Jun Chung ◽  
Eun-Heui Jin ◽  
Seung-Cheol Shim ◽  
Ji-Young Kim ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Potential Role ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Gene Copy Number Variation ◽  
Number Variation

Genetic variability of CYP2D6, CYP3A4 and CYP3A5 among the Egyptian population

2021 ◽  
Author(s):  
Thuraya M Mutawi ◽  
Mohamed M Zedan ◽  
Raida S Yahya ◽  
Mahmoud M Zakria ◽  
Mamdouh R El-Sawi ◽  
...  
Keyword(s):  
Genetic Variability ◽  
Copy Number Variation ◽  
Copy Number ◽  
Middle Eastern ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Allelic Variants ◽  
Gene Copy Number Variation ◽  
Number Variation ◽  
Study Participants

Aim: This study investigated major allelic variants of CYP2D6, CYP3A4 and CYP3A5 in Egyptians, an Arabic population for which there is little information regarding these important pharmacogenes. Patients & methods: CYP2D6*2, *4, *5, *10, *41 and gene copy number variation, as well as CYP3A4*22 and CYP3A5*3 were determined with commercially available TaqMan assays in 145 healthy study participants. Results: The CYP2D6 alleles identified suggest that the prevalence of poor metabolizers is low as none were found among the 145 subjects investigated. The frequency for CYP3A5 nonexpressers was 74.5% and the CYP3A4*22 allele frequency was low at 2.0%. Conclusion: These preliminary findings indicate that pharmacogene variation in Egyptians is different from those of other Middle Eastern/Arabic populations and warrants further investigation.

Gene copy number variation in schizophrenia

2007 ◽  
Vol 96 (1-3) ◽  
pp. 93-99 ◽  
Author(s):  
S SUTRALA ◽  
D GOOSSENS ◽  
N WILLIAMS ◽  
L HEYRMAN ◽  
R ADOLFSSON ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Gene Copy Number Variation ◽  
Number Variation

scholarly journals Gene copy number variation and its significance in cyanobacterial phylogeny

2012 ◽  
Vol 12 (1) ◽  
pp. 177 ◽  
Author(s):  
Bettina E Schirrmeister ◽  
Daniel A Dalquen ◽  
Maria Anisimova ◽  
Homayoun C Bagheri
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Gene Copy Number ◽  
Gene Copy ◽  
Gene Copy Number Variation ◽  
Number Variation
Sign in / Sign up

Export Citation Format

Share Document