Abstract
BackgroundThe positive association of multiple myeloma (MM) risk with HLA-C loci C*07:02 g and C*02:02 g, and the negative association of that with C*05:01 g were statistically significant in Whites have recently been reported. However, no association between HLA-C alleles and MM risk was found in Asians/Pacific Islanders. Here we identified 316 Chinese patients with MM, and reported the results of our investigation of HLA-C in MM in Chinese population.MethodsWe identified 316 Chinese patients with MM diagnosed in our hospital, and typed for HLA-C by using Sanger sequence-based typing. The control was from laboratories of China Marrow Donor Program (CMDP), where HLA high resolution was provided in 564,856 volunteer adult donors.ResultsIn contrast to the association of MM risk in Whites, we did not find the similar association in Chinese population. Nevertheless, four new associations between the MM risk were identified in Chinese patients. Our data demonstrated that Chinese patients with MM carry significantly increased frequencies of HLA-C*03:03 (FDR = 0.0269), HLA-C*07:63 (FDR = 0.0278) and HLA-C*08:22 (FDR = 0.0442) comparing with controls, while significantly decreased frequency of HLA-C*01:02 (FDR = 0.0414) comparing with controls.ConclusionTherefore, HLA-C region is a key risk locus for MM in Chinese population.
Highlights
The positive association of multiple myeloma (MM) risk with human leukocyte antigen (HLA)-C loci C*07:02 g and C*02:02 g, and the negative association of that with C*05:01 g were statistically significant in Whites have recently been reported
The allele frequencies, i.e. gene frequencies, instead of phenotype frequencies were examined as recommended for HLA-disease association studies [8]
The results indicated that the frequencies of C*01:02 (11.8671% vs. 15.8875%, Odds ratio (OR) = 0.713), C*03:02 (3.9557% vs. 5.93195%, OR = 0.652), C*07:02 (12.3418% vs. 15.19139%, OR = 0.786) were decreased, whereas the frequencies of C*03:03 (9.9684% vs. 6.93407%, OR = 1.486), C*06:02 (11.5506% vs. 8.85456%, OR = 1.344), C*07:63 (0.3165% vs. 0.00938%, OR = 33.831), C*08:22 (2.0570% vs. 0.87066%, OR = 2.391), C*12:02 (4.5886% vs. 3.13204%, OR = 1.487), C*17:01 (0.4747% vs. 0.10215%, OR = 4.664) were increased in Chinese patients with MM
Summary
The positive association of multiple myeloma (MM) risk with HLA-C loci C*07:02 g and C*02:02 g, and the negative association of that with C*05:01 g were statistically significant in Whites have recently been reported. No association between HLA-C alleles and MM risk was found in Asians/Pacific Islanders. Genetic predisposition studies in patients with hematological neoplasm include a large number of significant associations with the human leukocyte antigen (HLA) region. Niens et al provided evidence that HLA-A*01:01 was associated with an increased and A*02:01 with a decreased risk of EBV+ Hodgkin lymphoma [1]. Alcoceba et al found diffuse large B cell lymphoma (DLBCL) patients had a higher phenotypic frequency of HLADRB1*01 and a lower frequency of HLA-C*03 compared with healthy individuals [2].
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