prikaz prve stranice dokumenta Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis
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Scientific paper - Original scientific paper
Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis
PLoS ONE, 9 (2014), 3; e91385. urn:nbn:hr:184:010146
Etobeke, Godfrey Essien; Bulat-Kardum, Ljiljana; Munthe, Lidvig Andre; Balen, Sanja; Dembić, Zlatko

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Etobeke, G. E., Bulat Kardum, Lj., Munthe, L. A., Balen, S. & Dembić, Z. (2014). Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis. PLoS ONE, 9. (3). Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:010146

Etobeke, Godfrey Essien, et al. "Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis." PLoS ONE, vol. 9, no. 3, 2014. https://urn.nsk.hr/urn:nbn:hr:184:010146

Etobeke, Godfrey Essien, Ljiljana Bulat Kardum, Lidvig Andre Munthe, Sanja Balen and Zlatko Dembić. "Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis." PLoS ONE 9, no. 3 (2014). https://urn.nsk.hr/urn:nbn:hr:184:010146

Etobeke, G. E., et al. (2014) 'Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis', PLoS ONE, 9(3). Available at: https://urn.nsk.hr/urn:nbn:hr:184:010146 (Accessed 28 April 2024)

Etobeke GE, Bulat Kardum Lj, Munthe LA, Balen S, Dembić Z. Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis. PLoS ONE [Internet]. 2014 March 13 [cited 2024 April 28];9(3). Available at: https://urn.nsk.hr/urn:nbn:hr:184:010146

G. E. Etobeke, Lj. Bulat Kardum, L. A. Munthe, S. Balen and Z. Dembić, "Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis", PLoS ONE, vol. 9, no. 3, March 2014. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:010146. [Accessed: 28 April 2024]

Metadata
Title (english)Association of Variable Number of Tandem Repeats in the Coding Region of the FAM46A Gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with Susceptibility to Tuberculosis
AuthorGodfrey Essien Etobeke
AuthorLjiljana Bulat-Kardum
AuthorLidvig Andre Munthe
AuthorSanja Balen
MBZ: 236875
AuthorZlatko Dembić
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Clinical Laboratory Diagnostics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
We analyzed for association between the Family with sequence similarity 46, member A (FAM46A) gene (located on chromosome 6q14.1), BCL2-Associated Athanogene 6 (BAG6) gene (located on chromosome 6p21.3) and tuberculosis in Croatian Caucasian. We genotyped the FAM46A rs11040 SNP, FAM46A VNTR and BAG6 rs3117582 polymorphisms in a case-control study with 257 tuberculosis patients and 493 healthy individuals in a Croatian Caucasian population. We found that genotype FAM46A 3/3 (three VNTR repeats homozygote) was associated with susceptibility to tuberculosis (p<0.0015, Pcorr.<0.029, Odds ratio = 2.42, 95% Confidence Interval = 1.34–4.3). This association suggests that the protein domain encoded by the VNTR might be important for the function of the FAM46A protein, which, in turn, could be relevant in developing tuberculosis. In addition, we found that FAM46A rs11040 SNP:FAM46A VNTR:BAG6 haplotype 132 (G-3-C) is associated with susceptibility to tuberculosis (p<0.012, pcorr.<0.024, Odds ratio 3.45, 95% Confidence Interval = 1.26–9.74). This may suggests that the interaction between the FAM46A and BAG6 proteins may be involved in tuberculosis etiology. We found also that infection of human macrophages with heat-killed M. tuberculosis (H37Rv) led to over-expression of FAM46A (VNTR 3/4) transcript. This is the first study to show associations between the FAM46A gene VNTR polymorphisms, FAM46A rs11040 SNP:FAM46A VNTR:BAG6 haplotypes and any disease.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review - international
Publication versionPublished version
Journal titlePLoS ONE
Numberingvol. 9, no. 3, e91385
e-ISSN1932-6203
URN:NBNurn:nbn:hr:184:010146
Publication2014-03-13
Document URLhttps://doi.org/10.1371/journal.pone.0091385
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-05-19 15:31:55