HLA allele and haplotype polymorphisms among Croatian patients in an unrelated hematopoietic stem cell donor search program

Grubić, Zorana; Janković, Katarina Štingl; Maskalan, Marija; Serventi‐Seiwerth, Ranka; Mikulić, Mirta; Kamenarić, Marija Burek; Nemet, Damir; Žunec, Renata

doi:10.1016/j.trim.2014.06.007

Cited by 8 publications

(14 citation statements)

References 45 publications

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“…Moreover, we also revealed that besides the HLA-B * 58:01 allele, several other alleles, such as HLA-A * 33:03, HLA-A * 24:02, HLA-B * 58:01, HLA-A * 02:01 and HLA-A * 29:01, also appeared in patients with gout at a high frequency. This result is in accordance with previous reports [ 17 , 26 , 30 , 31 ]. However, we found that there was no significant difference in the frequency of these alleles in patients with ALP-induced MCARs compared with those in ALP-tolerant patients, as represented by the odds ratios shown in Table 4 .…”

Section: Discussionsupporting

confidence: 94%

Predominant HLA Alleles and Haplotypes in Mild Adverse Drug Reactions Caused by Allopurinol in Vietnamese Patients with Gout

et al. 2021

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Allopurinol (ALP) is commonly used as a drug for gout treatment. However, ALP is known to cause cutaneous adverse reactions (CARs) in patients. The HLA-B*58:01 allele is considered a biomarker of severe CAR (SCAR) in patients with gout, with symptoms of Stevens Johnson syndrome, and with toxic epidermal necrolysis. However, in patients with gout and mild cutaneous adverse drug reactions (MCARs), the role of HLA-allele polymorphisms has not been thoroughly investigated. In this study, 50 samples from ALP-tolerant patients and ALP-induced MCARs patients were genotyped in order to examine the polymorphisms of their HLA-A and HLA-B alleles. Our results showed that the frequencies of HLA-A*02:01/HLA-A*24:02 and HLA-A*02:01/HLA-A*29:01, the dual haplotypes in HLA-A, in patients with ALP-induced MCARs were relatively high, at 33.3% (7/21), which was HLA-B*58:01-independent, while the frequency of these dual haplotypes in the HLA-A locus in ALP-tolerant patients was only 3.45% (1/29). The HLA-B*58:01 allele was detected in 38% (8/21) of patients with ALP-induced MCARs, and in 3.45% (1/29) of ALP-tolerant patients. Notably, although HLA-B*58:01 may be a cause for the occurrence of MCARs in patients with gout, this correlation was not as strong as that previously reported in patients with SCAR. In conclusion, in addition to the HLA-B*58:01 allele, the presence of the dual haplotypes of HLA-A*02:01/HLA-A*24:02 and/or HLA-A*02:01/HLA-A*29:01 in the HLA-A locus may also play an important role in the appearance of ALP-induced MCARs in the Vietnamese population. The obtained primary data may contribute to the development of suitable treatments for patients with gout not only in Vietnam but also in other Asian countries.

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Section: Discussionsupporting

confidence: 94%

Predominant HLA Alleles and Haplotypes in Mild Adverse Drug Reactions Caused by Allopurinol in Vietnamese Patients with Gout

et al. 2021

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“…The most interesting finding from our previous study regarding HLA‐DRB1 matching was also observed in the present analysis 12 . Namely, in this larger group of patients, the HLA‐DRB1*11:04 ‐positive patients had a lower chance of finding a 10/10 MUD in comparison to patients carrying the HLA‐DRB1*11:01 allele.…”

Section: Discussionsupporting

confidence: 86%

An intermediate‐sized donor registry experience: HLA barriers in matching procedures

Grubic,

Maskalan,

Stingl Jankovic

et al. 2024

HLA

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The data enabling the estimation of the possibility of finding a matched unrelated donor (MUD) within a relatively short time is important for the success of hematopoietic stem cell transplantation (HSCT). In the present study, 738 unrelated Croatian patients in the program of unrelated HSCT were retrospectively analyzed for gender matching, donor origin (national or international), the distribution of HLA alleles and haplotypes, as well as for the probability of finding a 9‐10/10 MUD. Almost 70% of the patients in our study group had a 10/10 MUD, while among the patients with a 9/10 MUD, a 1st field resolution level mismatched donor was selected for 55.0% of patients. The majority of pairs were HLA‐A mismatched (33.8%). A comparison of HLA allele frequencies between two subgroups of patients revealed significant differences for 13 alleles. However, after p value correction, the difference in frequency remained significant only for four alleles; three HLA alleles (B*08:01, C*07:01, and DRB1*03:01) demonstrated a significantly higher frequency among patients with a 10/10 MUD (Pcorr < 0.0001, Pcorr = 0.0096, and Pcorr < 0.0001, respectively), while the B*35:08 allele was significantly more present among patients with a 9/10 MUD (Pcorr = 0.0328). The comparison of the distribution of HLA haplotypes between patients with a 10/10 MUD and patients with a 9/10 MUD showed significant differences for a number of two‐locus and three‐locus haplotypes, as well as for one five‐locus haplotype (HLA‐A*01:01~B*08:01~C*07:01~DRB1*03:01~DQB1*02:01), which was significantly more present in the group of patients with a 10/10 MUD. At least one HLA haplotype from the group of non‐frequent HLA haplotypes (positions >1000) was carried by patients with a 9/10 MUD. The data obtained by the present study will contribute to a better estimation of the probability of finding a suitable 9‐10/10 MUD for Croatian patients in need of HSCT.

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“…Since a majority of donors of European origin are found in three national registries (Germany, UK, and USA), the question may arise about the utility of small or intermediate size European registries. Because low frequency HLA haplotypes often present a more restricted geographic distribution, such registries may still provide highly matched donors to a substantial number of national patients as shown by four registries of small/intermediate size . The Swiss registry SBSC (Swiss Blood Stem Cells), part of Swiss Transfusion SRC Ltd, has now more than 130 000 HLA‐typed donors.…”

Section: Introductionmentioning

confidence: 99%

“…as shown by four registries of small/intermediate size. [6][7][8][9] The Swiss registry SBSC (Swiss Blood Stem Cells), part of Swiss Transfusion SRC Ltd, has now more than 130 000 HLA-typed donors. It provides compatible HSC donors for <10% of national patients, essentially due to the high variability of HLA haplotypes in the Swiss population.…”

mentioning

confidence: 99%

A study of selected hematopoietic stem cell donors provided by an intermediate size registry

Nicoloso

Kürsteiner

Bussmann

et al. 2019

European J of Haematology

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Objective Planning new hematopoietic stem cell (HSC) donor recruitment strategies requires a sound understanding of the factors underlying donor selection, especially considering HLA‐matching criteria. Method A total of 182 consecutive workups of Swiss donors performed from 2014 to 2017 were analyzed for HLA match level, locus disparities, number of potentially 10/10 matched donors in the international database, donor ranking on the lists, donor date of registration, age, ABO, CMV, gender matching, patient genotype frequency, and country performing the search. Results Matching status of the selected donors was 10/10 for 38.5%, 10‐12/12 for 35.1%, and 8‐9/10 for 26.4% donors, without differences in average donor age in the three categories. HLA‐A and ‐C mismatches were most frequent and ‐DRB1 very rare. 8.2% patients were matched for HLA‐DPB1 (12/12). ABO matching was 46.3%, and CMV matching was 59.1%. Based on “HaploStat”‐derived genotype frequencies, 50.3% patients belonged to the “good,” 38.5% to the “fair,” and 11.2% to the “poor” search prognosis categories. 37.9% of transplants were gender‐mismatched, and 42.3% of donors were female. Conclusion HLA typing quality (high resolution, all loci typed), great diversity of haplotypes and donor age are main factors impacting the selection of Swiss donors, while gender and ABO matching seem to be of secondary importance.

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HLA allele and haplotype polymorphisms among Croatian patients in an unrelated hematopoietic stem cell donor search program

Cited by 8 publications

References 45 publications

Predominant HLA Alleles and Haplotypes in Mild Adverse Drug Reactions Caused by Allopurinol in Vietnamese Patients with Gout

Predominant HLA Alleles and Haplotypes in Mild Adverse Drug Reactions Caused by Allopurinol in Vietnamese Patients with Gout

An intermediate‐sized donor registry experience: HLA barriers in matching procedures

A study of selected hematopoietic stem cell donors provided by an intermediate size registry

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