The polymorphism of Knops blood group system in Korean population and their relationship with HLA system

The main purpose of this report is to provide baseline gene frequencies of Knops blood group in the complement receptor 1 gene (CR1) in Korean population. In addition, possible relationship between the CR1 polymorphism and HLA specificities were studied, because the two systems had principal importance in immunity. CR1, which contains Knops antigens, was investigated by PCR-direct sequencing from 238 cord blood from Koreans. HLA data was archived from the enrolled cord blood units. Among the 7 SNPs, only 4843 (for KCAM antigen) and 4223 (for Yk^a) nucleotide positions showed polymorphism. The genotype frequencies of KCAM were A/A (62.2%), A/G (33.2%), and G/G (4.6%); Yk^a were C/C (29.4%), C/T (50%), and T/T (20.6%). KCAM (A/A) associated with HLA-DRB1^∗13 (p = 0.003, P_c = 0.0513); KCAM (G/G) with HLA-A^∗30 (p < 0.001, P_c = 0.0012). The Knops blood group system in Korean population has no diversity, except SNPs for KCAM and Yk^a, and the genotype of KCAM related with specific HLA alleles.     

Meta-analysis of the relationship between 14bp insertion/deletion polymorphism of HLA-G gene and susceptibility to systemic lupus erythematosus

We performed a meta-analysis to examine the relationship between the human leukocyte antigen-G (HLA-G) 14 base pairs sequence (14bp) insertion (ins)/deletion (del) polymorphism to systemic lupus erythematosus (SLE). Eligible studies were extracted in PubMed, Embase, Cochrane Library and CNKI (Chinese) up to March 31, 2014. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated to evaluate the strength of the association. Finally, 7 studies with 1864 cases and 2259 controls were involved in this meta-analysis. Overall, the HLA-G 14bp ins/del polymorphism was significantly associated with SLE susceptibility (ins vs. del: OR = 1.179, 95%CI = 1.037–1.341, P = 0.012; ins/ins vs. del/del: OR = 1.394, 95%CI = 1.153–1.684, P = 0.001; ins/del vs. del/del: OR = 1.199, 95%CI = 1.041–1.382, P = 0.012; ins/ins + ins/del vs. del/del: OR = 1.252, 95%CI = 1.097–1.430, P = 0.001). When stratified by ethnicity, significance was found in Asians (ins/ins vs. del/del: OR = 1.326, 95%CI = 1.001–1.756, P = 0.049) and Caucasians (ins/ins vs. del/del: OR = 1.454, 95%CI = 1.126–1.878, P = 0.004; ins/del vs. del/del: OR = 1.288, 95%CI = 1.051–1.579, P = 0.015; ins/ins + ins/del vs. del/del: OR = 1.340, 95%CI = 1.106–1.623, P = 0.003). Our results suggest that the HLA-G 14bp insertion allele might act as an increased risk against SLE. Besides, this is the first meta-analysis to report an association between the HLA-G 14bp ins/del polymorphism and SLE. Larger and well-designed studies are needed to further confirm these findings.     

Prevalence of 4977bp Deletion in Mitochondrial DNA from Patients with Chronic Kidney Disease Receiving Conservative Treatment or Hemodialysis in Southern Brazil

Background. Damage to mitochondrial DNA (mtDNA) has been described in patients with chronic kidney disease (CKD). The presence of mtDNA 4977bp deletion in many different tissues can serve as a marker of this damage. However, no attempt has been made to detect the presence of mtDNA 4977bp in blood cells of patients with CKD. Methods. Polymerase chain reaction techniques (PCR) were used to detect mtDNA 4977bp deletion in blood samples of 94 CKD patients. Results. The prevalence of 4977bp deletion in mtDNA was 73.1% (38/52) in patients with CKD undergoing hemodialysis, 57.1% (27/42) in patients with CKD receiving conservative treatment, and 27.8% (15/54) in control samples (p < 0.001). Higher prevalence of this mutation was not associated with patient age (p?=?0.54) or time on hemodialysis (p?=?0.70). Conclusion. The higher prevalence of mtDNA 4977bp deletion in patients in this study indicates that the CKD can induce damage to mtDNA in blood cells and could be exacerbated by hemodialysis.     

Donor derived HLA-G polymorphisms have a significant impact on acute rejection in kidney transplantation

Human leucocyte antigen G (HLA-G) is a non-classical HLA-class I antigen that exerts immunoregulatory functions. The polymorphisms 14-base pair (bp) insertion/deletion (ins/del) (rs1704) and +3142C > G (rs1063320) could modify the expression level of HLA-G.We genotyped 175 kidney recipients (41 with acute rejection and 134 without rejection) and additionally the corresponding donors for both polymorphisms in order to assess their impact on acute rejections one year after transplantation. In addition, we analyzed soluble HLA-G (sHLA-G) levels in sera of 32 living kidney donors and compared the sHLA-G levels in terms of the present genotype.In kidney transplant recipients we did not observe an impact of the 14-bp ins/ins and the +3142GG genotypes on acute rejection. In contrast, we found a higher frequency of these genotypes in the donors of the no-rejection collective compared to the rejection collective (4.9% vs. 24.6%; p = 0.010; 9.8% vs. 31.3%; p = 0.006). Soluble HLA-G levels were highest in healthy kidney donors homozygous for the 14-bp insertion.We conclude that the HLA-G polymorphisms of the donor are of importance for susceptibility of acute rejection in kidney transplantation. We suggest that the 14-bp ins/ins and the +3142GG genotypes are protective against kidney transplant rejection.     

mtDNA~(CD4977)与老年性聋相关性的研究进展

半个世纪以来,老年性聋发病率在全球范围内持续增长。据美国公共卫生署统计,75岁以上的老年人约40%~66%的有听力损失,而超过80岁的老年人80%以上有听力损失[1-3]。老年性聋是随着年龄逐步进展,双耳对称性的,以感音神经性为主的慢性进行性听力减退,又称年龄相关的听力损失[4-6]。它是年龄增长后听觉器官逐步衰老的过程,是听觉系统精细结构处理信息发生障碍的过程[7]。老年性聋是由多种危险因子的长期累积损害而成,其中年龄是最重要的危险因子。而长期慢性疾病,如高血压、糖尿病能引起内耳供血的减少,也会进一步加重听力的损害[1,8-9]。随着生物医学的不断发展,许多学者发现老年性聋患者不仅伴有核基因组的改变,线粒体DNA(mitochondrial DNA,mtDNA)的突变和缺失在老年性聋的发生、发展过程中也发挥重要作用[2,6,10]。