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The American Society for Histocompatibility and Immunogenetics HLA common and well-documented (CWD) catalog, CWD 2.0.0 catalog and European Federation for Immunogenetics (EFI) CWD catalog have been published, which are useful for improving the accuracy of HLA genotyping in laboratories. Here, we studied the Chinese HLA CWD catalog. A total of 812 211 unrelated volunteer donors from the China Marrow Donor Program (CMDP) were analyzed. Six hundred seventy-six alleles at the HLA-A, -B, -C, -DRB1, and -DQB1 loci were defined as CWD alleles in the Chinese population, including 159 common and 517 well-documented alleles. The distribution of HLA alleles in the Chinese CWD catalog is different from that in the EFI CWD catalog. Thirty-two percent (215/676) of CWD alleles in the Chinese CWD catalog are shared with those in the EFI CWD catalog. Fifty-six percent (380/676) of alleles in the Chinese CWD catalog are not found in the EFI CWD catalog, while 655 alleles in the EFI CWD catalog are neither common nor well-documented alleles in the Chinese CWD catalog. The Chinese CWD catalog described in this study may help to improve high-resolution histocompatibility testing for CMDP-accredited laboratories in China. However, to accommodate an increasing number of HLA alleles, this Chinese CWD catalog should be regularly updated., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Strong associations between HLA alleles and infectious and autoimmune diseases are well established. Although obesity is also associated with these diseases, the relationship between HLA and obesity has not been systematically investigated in a large cohort. In the current study, we analyzed the association of HLA alleles with BMI using data from 1.3 million healthy adult donors from the Chinese Marrow Donor Program (CMDP). We found 23 HLA alleles, including 12 low-resolution and 11 high-resolution alleles, were significantly associated with BMI after correction for multiple testing. Alleles associated with high BMI were enriched in haplotypes that were common in both Chinese and European populations, whereas the alleles associated with low BMI were enriched in haplotypes common only in Asians. Alleles B*07, DRB1*07, DRB1*12, and C*03:02 provided the strongest associations with BMI ( P = 6.89 × 10 -10 , 1.32 × 10 -9 , 1.52 × 10 -9 , and 4.45 × 10 -8 , respectively), where B*07 and DRB1*07 also had evidence for sex-specific effects ( P heterogeneity = 0.0067 and 0.00058, respectively). These results, which identify associations between alleles of HLA-B , DRB1 , and C with BMI in Chinese young adults, implicate a novel biological connection between HLA alleles and obesity., (© 2018 by the American Diabetes Association.)

GlobalFiler™ Express amplification kit incorporates 21 commonly used autosomal short tandem repeat (STR) loci and three gender determination loci. In this study, we analyzed GlobalFiler STR loci on 1006 unrelated individuals sampled of the Han population from Xiamen city, Fujian province, China. No deviations from Hardy-Weinberg equilibrium were observed. The combined probability of exclusion (CPE) for all 21 STR loci were >0.99999999771. A comparison of the allele frequencies in the population under study has been performed with other published from East Asian population for the same loci. Multiple STR loci showed significant differences between Han population from Xiamen and Korea, as well as Japan., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Our aim was to investigate whether genetic polymorphism of IL-1F7 (rs3811047) was involved in the susceptibility to rheumatoid arthritis (RA) in Chinese Han population. Single nucleotide polymorphism (SNP) of IL-1F7 gene (rs3811047) was analyzed in 184 unrelated Chinese Han patients with RA and 184 healthy controls by ligase detection reaction based on high temperature ligase detection reactions polymerase chain reaction (LDR-PCR). There were no statistically significant differences in the genetic polymorphism (genotypes and allele frequencies) of IL-1F7 (rs3811047) in the patients with RA compared with control. Although all of the clinical and laboratory measures were similar to each other among patients with different genotypes, RA patients carrying AA or AG genotypes had lower swollen joint count, swollen joint index, rest pain and health assessment questionnaire (HAQ) score than that in patients having GG genotype (P < 0.05). These findings show that no evidence for the involvement of a pro-inflammatory polymorphism in the IL-1F7 in the susceptibility to RA in China. Patients carrying A allele had less severe disease activity than those not carrying this allele, suggesting that the A allele of IL-1F7 gene (rs3811047) may have a protective effect on RA., (© 2012 Blackwell Publishing Ltd.)

Background: Leprosy is a chronic infectious disease caused by Mycobacterium leprae. Cell-mediated (Th1) immune response and humoral (Th2) immune response play different roles in leprosy infection. Interleukin 4 (IL-4) is a typical Th2 cytokine. It is a critical mediator of the Th1/Th2 balance., Objective: The objective of this study is to investigate the association between IL-4 gene -590T/C polymorphism and the susceptibility to leprosy in a Chinese population., Methods: The IL-4 variant -590T/C was detected by polymerase chain reaction-restriction fragment length polymorphism in 432 leprosy cases and 465 age-matched healthy controls. Data were analyzed using the chi-square test., Results: Frequencies of the IL-4-590TC and CC genotypes and the -590C allele were significantly lower in patients with leprosy than in healthy controls (odds ratio [OR]=0.74, 95% confidence interval [CI] 0.55-0.99, p=0.044; OR=0.46, 95% CI 0.25-0.84, p=0.010; and OR=0.68, 95% CI 0.54-0.86, p=0.001, respectively)., Conclusions: Our data suggest that the -590T/C polymorphism of the IL-4 gene is associated with decreased susceptibility of leprosy.