Association between HLA-DRB1 gene polymorphisms and genetic susceptibility of early-onset severe preeclampsia / 中国当代儿科杂志

OBJECTIVES@#To explore the correlation between the single nucleotide polymorphisms (SNP) of rs3135388, rs114293611 and rs142804168 of HLA-DRB1 gene and early-onset severe preeclampsia (sPE).@*METHODS@#Blood samples were collected from 102 early-onset sPE mothers and their neonates (sPE group), as well as 120 normotensive mothers and their neonates (control group). Sanger sequencing was performed to compare the genotype distribution, allele frequencies, and differences in genotype distribution after maternal-infant compatibility between the two groups.@*RESULTS@#Statistically significant differences in genotype distribution at rs114293611 of HLA-DRB1 gene were observed between sPE and control groups in both mothers and neonates (P<0.05). The frequency of the T allele at rs114293611 was higher in the sPE group of neonates than that in the control group (P<0.05), while no significant difference was found between the two groups of mothers (P>0.05). The maternal-infant genotype compatibility analysis showed significant differences in genotype distribution between sPE and control groups (P<0.05). There were no significant differences in genotype distribution and allele frequencies at rs3135388 and rs142804168 of HLA-DRB1 gene between the two groups of mothers and neonates (P>0.05).@*CONCLUSIONS@#The SNP at rs114293611 of HLA-DRB1 gene may be associated with the development of early-onset sPE in mothers. Maternal-infant genotype compatibility abnormality at rs114293611 of HLA-DRB1 gene may be a predisposition factor for the development of sPE.

Examining Caries Risk With the Caracteristic of HLA-DRB1 Gene

@#Introduction: HLA-DRB1 alleles were derived from MHC class II molecules. These alleles encoded sIgA secretion which contribute as a barrier to S. mutans colonization. HLA-DRB1 was known as genes with high mutations causing differences in peptide bond, thus affecting the progression and vulnerability to a disease. The purpose of this study was to determine the effect of mutations in HLA-DRB1 alleles in different dental caries risk. Methods: In this study, we extracted the genomic DNA from whole blood samples of 30 patients with low level dental caries (indeks def-t < 2) as control group and high level dental caries (deft > 3) as case group. HLA-DRB1 varians were studied through genomic DNA isolation for PCR-RFLP. RFLP is analyzed through BseRI, BsaJI, RsaI, and Sau961 restriction enzymes was used in this assay. Results: The PCR-RFLP typing method was evaluated on 60 genomic DNA samples, result found that all samples were divided into 5 groups of variants, two variants in the control group and three variants in the case group. Conclusion: PCR-RFLP was shown to be a sensitive method for the detection of mutation in HLADRB1 alleles caused a dental caries level differences. HLA-DRB mutations caused changes in signal transduction and therefore contributes to imunogenetik pathway of dental caries.

Association analysis of human leukocyte antigen class II (DRB1) alleles with leprosy in individuals from São Luís, state of Maranhão, Brazil

Epidemiological studies have demonstrated that the variability of the clinical response to infection caused by Mycobacterium leprae is associated with host genetic factors. The present study investigated the frequency of human leukocyte antigen (HLA) class II (DRB1) alleles in patients with leprosy from São Luís, Maranhão, Brazil. A case-control study was performed in 85 individuals with leprosy and 85 healthy subjects. All samples were analysed via polymerase chain reaction-sequence specific oligonucleotide probes. The HLA-DRB1*16 allele showed a higher frequency in the group with leprosy [(9.41% vs. 4.12%) odds ratio (OR) = 2.41 95% confidence interval (CI) (0.96-6.08) p = 0.05], whereas the HLA-DRB1*11 allele was less frequent in the group with leprosy [(6.47% vs. 11.76%) OR = 0.51 95% CI (0.23-1.12) p = 0.09]. The frequency of HLA-DRB1* alleles between the control group and leprosy patient subgroups presenting different forms of the disease showed that the HLA-DRB1*16 (16.13% vs. 8.24%, OR = 4.10, CI = 1.27-13.27, p = 0.010) and HLA-DRB1*14 (5% vs. 3.53%, OR = 4.63, CI = 1.00-21.08, p = 0.032) alleles were significantly more frequent in patients with different clinical subtypes of leprosy. The sample size was a limitation in this study. Nevertheless, the results demonstrated the existence of a genetic susceptibility associated with the clinical forms of leprosy. The low frequency of the HLA-DRB1*11 allele should be further studied to investigate the possible protective effect of this allele.

Association between HLA-DRB1 allele polymorphism and susceptibility to chronic myelogenous leukemia in Chinese Han / 中国免疫学杂志

Objective: The aim was to explore the association between the HLA-DRB1 allele polymorphism and susceptibility to chronic myelogenous leukemia(CML)in Chinese Han population.Methods: The polymorphism of HLA-DRB1 alleles in 762 CML patients and 2 264 normal umbihcal cord blood samples were tested by polymerase chain reaction with sequence specific primer(PCR-SSP).Results: The most common allele in DRB1 locus in normal population was DRB1 * 15(17.25%), whereas DRB1 * 10 was the least frequent allele(1.39%).Compared with normal controls, the frequency of HLA-DRB1 * 08 was significantly increased in all CML groups(7.48%vs 5.39%, X~2 =8.963,OR= 1.023, P =0.004)and CML male groups(7.72%vs 5.39%,X~2 = 8.059,OR= 1.025,P = 0.007).But there was no significant difference between the normal controls and CML female patients.Conclusion: It should be concluded that DRB1 * 08 could be considered a susceptible allele for CML male patients.

The Effect of Pretransplantation Fetomaternal Microchimerism Detected in Peripheral Blood on Graft Survival in Renal Transplantation / 대한이식학회지

BACKGROUND: Microchimerism detected after solid organ transplatnation has been reported to be associated with improved graft survival with some controversies. However, the effect of pretransplantation microchimerism on the graft survival has not been studied to date. The aim of this study was to investigate the effect of pretransplantation fetomaternal microchimerism on the graft survival in renal transplantation. METHODS: A total of 27 cases of renal transplantation performed between mother and child pairs during the period from 1996 to 2004 at the Seoul National University Hospital were studied retrospectively. Presence of pretransplantation fetomaternal microchimerism was detected using DNA samples extracted from peripheral blood collected before the operation. Microchimerism for the HLA-DRB1 gene of non-inherited maternal antigen was detected using nested PCR-single strand conformation polymorphism (SSCP) method. The function and survival of allograft was compared between the groups with and without microchimerism. RESULTS: Microchimerism was detected in 10 (37%) of the 27 cases. In the group with microchimerism, serum creatinine levels at one and three years after transplantation tended to be lower in the patients with microchimerism than in those without microchimerism (one year, 1.1 vs 1.3 mg/dL, P=0.133; three years, 1.2 vs 1.5 mg/dL, P=0.083). The rejection free survival tended to be longer in the patients with microchimerism than in those without microchimerism (113.5 vs 72.5 months, P=0.146). CONCLUSIONS: This study was limited by small number of cases, and an extended study on a larger number of patients is needed to clarify the role of pretransplantation fetomaternal microchimerism on allograft survival.

Study on the correlation between HLA-DRB1 genes and unexplained recurrent spontaneous abortions in Xiangxi Tujia and Han population / 中国综合临床

Objective To analyze the HLA - DRB1 gene polymorphism and the hereditary association with unexplained recurrent spontaneous abortions(URSA)in a population of Tujia and Han nationality from west part of Hunan province in China. Methods The alleles at the HLA-DRB1 typing were analyzed by polymerase chain reac-tion-sequence specific primers (PCR-SSP) in 76 URSA Tujia population and 68 URSA Han population and 82 healthy Tujia population and 75 healthy Han population. Results ①DRB1*04 frequency of URSA in Tujia and Han population was strikingly higher than that of the healthy Tujia and Han population(RR>1,Pc <0.01),but the DRB1*12 frequency was strikingly lower than that of the healthy Tujia and Han population respectively(RR<1,Pc <0.01). ②DRB1*07 frequency of URSA in Tujia population was strikingly higher than that of the URSA in Han population (18.08% : 5.28%, Pc<0.01). Conclusion HLA-DRB1*04 maybe predisposing genes of URSA in Tujia and Han population,and HLA-DRB1*12 maybe associated with an antagonist effect in the pathogenesis of UR-SA in this population.

Association between rheumatoid arthritis and shared epitope of HLA-DRB1 gene in Shandong population / 中华风湿病学杂志

Objective To investigate the association between rheumatoid arthritis (RA) and the presence of the shared epitope (SE) of HLA DRB1 gene in Han nationality of Shandong population.Methods The method of DNA amplification with sequence specific primers (PCR SSP) was used to determine 17 alleles of HLA DRB101,04,10 genotypes in 132 RA patients and 130 healthy controls from the Han nationality population in Shandong.Results The frequencies of SE were significantly increased in RA patients compared with controls (50 0% vs 22 3%, P

Association between rheumatoid arthritis and shared epitope of HLA-DRB1 gene in Han nationality Neimenggu population / 中华风湿病学杂志

Objective To investigate the assoiation between rheumatoid arthritis(RA)and the pres- ence of the shared epitope(SE)of HLA-DRBI gene in Han nationality of Neimenggu population.Methods The method of DNA amplification with sequence-specific primers(PCR-SSP)was used to determine 17 alleles of HLA-DRB1*01,*04,*10 genotypes in 80 RA patients and 110 healthy controls from the Han nationality population in Neimenggu.Results The frequencies of SE were significantly increased in RA patiens com- pared with controls(48.8%:20%,P＜0.01).Epitope analysis revealed that the most predominant allele subtype of DR4(*0405)was usceptible sequence in Neimenggu patients with RA(28.8%:12%,P＜0.01).No statisticall significant difference of other subtypes of DR1,DR4 nd DR10 was noted including DRB1*0101(2.5%:0.9%), *0102(2.5%:0),*0103(1.25%:0.9%),*0104(2.5%:0),*0401(6.25:1.8%),*0402(3.75%:0.9%),*0403 (1.25%:1.8%),*0404(2.5%:1.8%),*0406(2.5%:2.7%),*0407(1.25%:0.9%),*0408(3.75 %:0.9%),*0409 (1.25%:0),*0410(2.5%:0.9%),*0411(0:0)and *1001(8.75%:4.5%)respectively.Logistic regression analy- sis showed that the disease of patients with SE homozgote was more severe than that of patients with heterozy- gote(P＜0.01).Conclusion The results suggest that there is an association between SE of HLA-DRBI gene and susceptibility and severity of RA,especially,HLA-DR4 subtypes are strongly associated with RA in Han nationality in Neimenggu population.