BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridYazar, Metin/0000-0002-2657-3072
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidYazar, Metin/ABA-3934-2020
dc.contributor.authorPamuk, Omer Nuri
dc.contributor.authorGurkan, Hakan
dc.contributor.authorPamuk, Gulsum Emel
dc.contributor.authorTozkir, Hilmi
dc.contributor.authorDuymaz, Julide
dc.contributor.authorYazar, Metin
dc.date.accessioned2024-06-12T11:02:33Z
dc.date.available2024-06-12T11:02:33Z
dc.date.issued2017
dc.departmentTrakya Üniversitesien_US
dc.description.abstractWe aimed to evaluate the relationship between some important genetic variations and expressions of these genes in our SLE population. We also determined their association with clinical parameters. Eighty-four SLE patients (79 F, 5 M) and 105 healthy controls (98 F, 7 M) were included in the study. rs13277113, rs2736340, rs7829816, rs6983130, rs2613310, and rs704853 polymorphisms, gene expressions of Src family kinases (Blk, Hck, Lck, and Lyn), and Syk kinases (Syk, ZAP70) were studied by real-time PCR. The heterozygous genotypic pattern (GA) for rs13277113 polymorphism was more frequent in patients with SLE when compared to that in controls (48.8 vs. 31.4%, p = 0.035). Other genotype variants were similar in SLE patients and controls. In the SLE group, the heterozygous genotype for rs13277113 was significantly less frequent in active SLE patients (58.8 vs. 26.7%, p = 0.01). SLE flares according to the SELENA-SLEDAI flare index were significantly more frequent in GA (rs13277113) (70 vs. 37%) and CT (rs2736340) genotypes (66.7 vs. 35.2%) than those in other genotypes (p values < 0.01). The relative expression of Blk gene was significantly decreased in the SLE group as compared to that in controls (0.52 times, 95%CI 0.19-0.85). The gene expressions of Blk and ZAP70 were significantly lower in SLE patients who had flares according to the SELENA-SLEDAI flare index when compared to those in others (p values 0.01 and 0.017). We observed more frequent heterozygous GA genotypic pattern (rs13277113) in our SLE patients compared to that in controls; and it was associated with disease flares. Blk gene expression in SLE was lower, especially in relapsing patients.en_US
dc.description.sponsorshipTrakya University Scientific Research Fund (TUBAP)en_US
dc.description.sponsorshipThis study was supported by the Trakya University Scientific Research Fund (TUBAP).en_US
dc.identifier.doi10.1007/s10067-016-3475-7
dc.identifier.endpage109en_US
dc.identifier.issn0770-3198
dc.identifier.issn1434-9949
dc.identifier.issue1en_US
dc.identifier.pmid27864698en_US
dc.identifier.scopus2-s2.0-84996835638en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage103en_US
dc.identifier.urihttps://doi.org/10.1007/s10067-016-3475-7
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21324
dc.identifier.volume36en_US
dc.identifier.wosWOS:000392309000014en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer London Ltden_US
dc.relation.ispartofClinical Rheumatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGene Expressionen_US
dc.subjectGeneticsen_US
dc.subjectPolymorphismen_US
dc.subjectSystemic Lupus Erythematosusen_US
dc.subjectSystemic-Lupus-Erythematosusen_US
dc.subjectMessenger-Rna Expressionen_US
dc.subjectDisease-Activityen_US
dc.subjectT-Cellsen_US
dc.subjectSusceptibilityen_US
dc.subjectProteinen_US
dc.subjectKinaseen_US
dc.subjectPolymorphismsen_US
dc.subjectTnfaip3en_US
dc.subjectPtpn22en_US
dc.titleBLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flaresen_US
dc.typeArticleen_US

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