Our results showed reduced percentages of the G allele of rs13277113 of BLK in GD (P = 0.037, odds ratio [OR] = 0.78, 95% confidence interval [CI] = 0.62-0.99) and HT (P = 0.002, OR = 0.54, 95% CI = 0.36-0.81), compared to the controls.
Our eQTL analysis finally detected three lncRNA-eQTLs, rs793544 in 3q13.12 (odds ratio [OR] = 1.15; confidence interval [CI]:1.09-1.22; P = 2.30 × 10<sup>-6</sup> ), rs7234707 in 18p11.31 (OR = 1.1; CI:1.05-1.15; P = 9.01 × 10<sup>-5</sup> ) and rs1600249 in 8p23.1 (OR = 1.1; CI:1.05-1.16; P = 1.27 × 10<sup>-4</sup> ), that were consistently associated with the risk of lung cancer.
Our eQTL analysis finally detected three lncRNA-eQTLs, rs793544 in 3q13.12 (odds ratio [OR] = 1.15; confidence interval [CI]:1.09-1.22; P = 2.30 × 10<sup>-6</sup> ), rs7234707 in 18p11.31 (OR = 1.1; CI:1.05-1.15; P = 9.01 × 10<sup>-5</sup> ) and rs1600249 in 8p23.1 (OR = 1.1; CI:1.05-1.16; P = 1.27 × 10<sup>-4</sup> ), that were consistently associated with the risk of lung cancer.
Our eQTL analysis finally detected three lncRNA-eQTLs, rs793544 in 3q13.12 (odds ratio [OR] = 1.15; confidence interval [CI]:1.09-1.22; P = 2.30 × 10<sup>-6</sup> ), rs7234707 in 18p11.31 (OR = 1.1; CI:1.05-1.15; P = 9.01 × 10<sup>-5</sup> ) and rs1600249 in 8p23.1 (OR = 1.1; CI:1.05-1.16; P = 1.27 × 10<sup>-4</sup> ), that were consistently associated with the risk of lung cancer.
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.
The CC (rs1234314, rs1234315) and AA (rs1600249, rs13277113) genotypes provided protective effects against AR, whereas the AG (rs13277113) genotype presented a risk factor for AR.
The results revealed that the BLK rs13277113 and rs2736340 polymorphisms increased the risk of autoimmune diseases in the total analysis (A vs G: OR = 1.33, 95% CI = 1.27-1.39, P < .01; T vs C: OR = 1.34, 95% CI = 1.27-1.41, P < .01), and rs4840568 was positively associated with systemic lupus erythematosus (SLE) (A vs G: OR = 1.32, 95% CI = 1.22-1.43, P = .01).
The CC (rs1234314, rs1234315) and AA (rs1600249, rs13277113) genotypes provided protective effects against AR, whereas the AG (rs13277113) genotype presented a risk factor for AR.
This meta-analysis shows that the BLK (rs13277113, rs2736340, rs4840568) polymorphisms may be a risk factor for developing autoimmune diseases, especially for Asian populations and SLE.
Our present study demonstrated that strong allele association was observed in overall PM/DM and PM patients for rs2736340 (P c = 6.48 × 10(-3); P c = 0.013, respectively), rs7812879 (P c = 0.017; P c = 0.034, respectively) and rs13277113 (P c = 0.011; P c = 0.047, respectively).
The FAM167A-BLK single nucleotide polymorphisms (SNPs) rs2736340, rs7812879, rs13277113, rs2618479, rs2254546 and rs2248932 were analyzed in polymyositis (PM) patients (n = 310), DM patients (n = 535) and 968 ethnically matched healthy controls, with the Sequenom MassArray system.
In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with systemic lupus erythematosus.
In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with systemic lupus erythematosus.
Our results indicated that the SNPs (rs2736340, rs13277113) of the FAM167A-BLK region, but not the BANK1 SNPs (rs4522865, rs17266594, and rs10516487), were associated with the development of pSS in Han Chinese.
Weak associations were observed when the SNPs in TNFSF4 (rs2205960, rs844648 and rs704840) and FAM167A-BLK (rs7812879, rs2254546 and rs2618479) were directly analyzed or analyzed under dominant model between pSS and controls (all P<0.05).
Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families.
Five rare mutations at the BLK locus, including only one non-synonymous p.A71T variant, were reported to segregate with diabetes in three MODY families.
From our findings, the BLK-p.A71T mutation may weakly influence type 2 diabetes risk in the context of obesity; however, this will require further validation.
From our findings, the BLK-p.A71T mutation may weakly influence type 2 diabetes risk in the context of obesity; however, this will require further validation.