Attitudes of Chinese couples in Hong Kong regarding using preimplantation genetic diagnosis (PGD) and human leukocyte antigens (HLA) typing to conceive a ‘Saviour Child’

Abstract Antiretroviral therapy (ART) aims at suppressing viral replication and strengthening immune system in patients with HIV-1. Human Leukocyte Antigens (HLA) are among factors responsible for effectiveness of ART. The aim of this study was to determine the effect of HLA Class II alleles on the response to long-time ART, assessed by a change in CD4+ T-cell count in relation to viral load. The sample included 69 patients (17 females and 52 males) aged 20 to 50 with HIV-1 infection, who were undergoing ART in the Latvian Centre of Infectious Diseases. The median period of observation was 5.7 years. CD4+ T-cell count and viral load were analysed at the baseline and end of the period of observation. HLA typing was performed by polymerase chain reaction with low resolution sequence specific primers. Multiple hierarchical linear regression analysis confirmed that an increase in HIV-1 viral load was associated with a decrease in the level of CD4+ T-cell count. In addition, HLA-DRB1*04 and HLA-DQB1*06:01 alleles contributed negatively to the level of CD4+ T-cell count.

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Choosing Embryos to Avoid Disease

Designing Babies ◽

10.1093/med/9780190054472.003.0006 ◽

2019 ◽

pp. 75-107

Author(s):

Robert L. Klitzman

Keyword(s):

Severe Disease ◽

Genetic Diagnosis ◽

Human Leukocyte ◽

Beta Thalassemia ◽

Whole Genome ◽

Human Leukocyte Antigens ◽

Leukocyte Antigens ◽

Whole Exome ◽

Future Child ◽

Near Future

Preimplantation genetic diagnosis (PGD) lets patients reject embryos with certain genes (e.g., for breast cancer, cystic fibrosis, or Down syndrome). Increasingly, researchers are also using whole-genome and whole-exome sequencing to identify genetic markers associated with other diseases. Doctors and patients can also choose embryos with certain immune system markers or human leukocyte antigens to enable the future child to donate stem cells or other tissues to an existing child with a severe disease and be a so-called savior sibling. This procedure has been used for sickle-cell anemia and beta-thalassemia. In the near future, CRISPR (clustered regularly interspaced short palindromic repeats) also will let doctors insert desired genes into embryos. But providers and patients struggle with when to use PGD, for which conditions, how to decide, how many times to attempt PGD if it fails, whether to select embryos to create savior siblings, whether patients should always be told the results of genetic tests on embryos, whether to test the fetus to confirm the results, and what to do with leftover embryos—whether to freeze, discard, or donate them.

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Complex preimplantation genetic diagnosis for beta-thalassaemia, sideroblastic anaemia, and human leukocyte antigen (HLA)-typing

Systems Biology in Reproductive Medicine ◽

10.3109/19396368.2015.1100692 ◽

2015 ◽

Vol 62 (1) ◽

pp. 69-76 ◽

Cited By ~ 7

Author(s):

Georgia Kakourou ◽

Christina Vrettou ◽

Antonis Kattamis ◽

Aspasia Destouni ◽

Myrto Poulou ◽

...

Keyword(s):

Human Leukocyte Antigen ◽

Preimplantation Genetic Diagnosis ◽

Genetic Diagnosis ◽

Human Leukocyte ◽

Hla Typing ◽

Leukocyte Antigen ◽

Beta Thalassaemia ◽

Sideroblastic Anaemia

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Association of ERAP2 polymorphisms in Colombian HLA-B27+ or HLA-B15+ patients with SpA and its relationship with clinical presentation: axial or peripheral predominance

RMD Open ◽

10.1136/rmdopen-2020-001250 ◽

2020 ◽

Vol 6 (2) ◽

pp. e001250

Author(s):

John Londono ◽

Ana M Santos ◽

Juan C Rueda ◽

Enrique Calvo-Paramo ◽

Ruben Burgos-Vargas ◽

...

Keyword(s):

Genomic Dna ◽

Clinical Presentation ◽

Human Leukocyte ◽

The Other ◽

Hla Typing ◽

Human Leukocyte Antigens ◽

Nucleotide Polymorphisms ◽

Hla B27 ◽

Single Nucleotide ◽

Leukocyte Antigens

ObjectiveTo determine the association between endoplasmic reticulum aminopeptidase (ERAP)1 and ERAP2 single-nucleotide polymorphisms (SNPs) and human leukocyte antigens (HLA)-B27+ or HLA-B15+ patients with spondyloarthritis (SpA).Methods104 patients with SpA according to Assessment of Spondyloarthritis International Society criteria were included in the study. HLA typing was performed by PCR. The polymorphisms were determined by real-time PCR on genomic DNA using customised probes for SNPs rs27044, rs17482078, rs10050860 and rs30187 in ERAP1, and rs2910686, rs2248374 and rs2549782 in ERAP2.Results70 of the104 patients with SpA were HLA-B27+ and 34 were HLA-B15+. The distribution of ERAP1 and ERAP2 SNPs between the HLA-B15+ and HLA-B27+ patients with SpA did not reveal differences. Likewise, no differences in the frequencies of ERAP1 SNP haplotypes and alleles HLA-B15 or HLA-B27 were found. Interestingly, however, the frequencies of three particular haplotypes formed by ERAP2 SNPs rs2549782/rs2248374/rs2910686 varied between HLA-B15+ and HLA-B27+ patients: the ERAP2 SNPs haplotype TGT was more common in HLA-B15+ patients with SpA (OR 2.943, 95% CI 1.264 to 6.585; P=0.009), whereas the ERAP2 SNP haplotypes TGC and CAT were more associated with HLA-B27+ patients with SpA: (OR 4.483, 95% CI 1.524 to 13.187; p=0.003) and (OR 9.014, 95% CI 1.181 to 68.807; p=0.009), respectively.ConclusionAn association was found between HLA-B15+ patients with SpA and haplotype TGT of ERAP2 SNPs. On the other hand, HLA-B27+ patients with SpA were associated with ERAP2 haplotypes TGC and CAT. These associations could be related to the clinical presentation of the disease, specifically with a peripheral or axial predominance, respectively.

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HLA alleles associated with asparaginase hypersensitivity in Chinese children

Journal of Hematology & Oncology ◽

10.1186/s13045-021-01201-3 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Gilbert T. Chua ◽

Jaime S. Rosa Duque ◽

Daniel Ka Leung Cheuk ◽

Alex Wing Kwan Leung ◽

Wilfred Hing Sang Wong ◽

...

Keyword(s):

Human Leukocyte ◽

Chinese Children ◽

Hla Typing ◽

Chinese Patients ◽

Human Leukocyte Antigens ◽

Hla Alleles ◽

Non Hodgkin Lymphoma ◽

Leukocyte Antigens ◽

Mixed Phenotype ◽

Important Drug

AbstractAsparaginase is an important drug to treat childhood haematological malignancies. Data on the association between human leukocyte antigens (HLA) and asparaginase hypersensitivity among Chinese are lacking. We conducted a retrospective study to identify HLA alleles associated with asparaginase hypersensitivity among Chinese children with acute lymphoblastic leukaemia (ALL), mixed phenotype leukaemia and non-Hodgkin lymphoma (NHL), who received asparaginases with HLA typing performed between 2009 and 2019. 107 Chinese patients were analysed. 66.3% (71/107) developed hypersensitivity to at least one of the asparaginases. HLA-B*46:01 (OR 3.8, 95% CI 1.4–10.1, p < 0.01) and DRB1*09:01 (OR 4.3, 95% CI 1.6–11.4, p < 0.01) were significantly associated with l-asparaginase hypersensitivities, which remained significant after adjustment for age, gender and B cell ALL [HLA-B*46:01 (adjusted OR 3.5, 95% 1.3–10.5, p = 0.02) and DRB1*09:01 (OR 4.4, 95% CI 1.6–13.3, p < 0.01)].

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