Frequency and relationship of HLA allele in Turkish patients with Fanconi anemia

Behnoush Nasr Zanjani; Hayriye Şentürk Çiftçi; Çiğdem Kekik Çınar; Tülin Tiraje Celkan; Nevin Yalman; Fatma Savran Oğuz

Makale detayları

Frequency and relationship of HLA allele in Turkish patients with Fanconi anemia

Yazarlar:

Behnoush Nasr Zanjani | Hayriye Şentürk Çiftçi | Çiğdem Kekik Çınar | Tülin Tiraje Celkan | Nevin Yalman | Fatma Savran Oğuz

Yayıncı:

Cukurova University

Ana Başlıklar:

Çocuk Hematolojisi ve Onkolojisi | İmmünogenetik

Dergi:

Cukurova Medical Journal Vol.49 Issue 3, pp.607-613

Belge Tipi:

Makale

Yayın Tarihi:

9/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001327849

pISSN:

2602-3032

Anahtar kelimeler:

Özet:

 Purpose: Fanconi anemia FA is a childhood disorder inherited in an autosomal recessive manner. It is characterized by bone marrow failure, a range of congenital physical abnormalities, increased susceptibility to cancer, chromosomal instability, and heightened sensitivity to cross-linking agents. The aim of this study was to determine the role of the HLA Class I and Class II alleles in genetic susceptibility to Fanconi anemia in Turkish patients. Materials and Methods: In this study, we retrospectively evaluated the HLA-A, -B, and -DRB1 allele frequencies of patients with Fanconi anemia who underwent hematopoietic stem cell transplantation between 2010 and 2021. HLA-A, -B, -DR of all patients and healthy Turkish individuals were genotyped. Results: The study included 86 patients with Fanconi anemia and 300 healthy controls. The most common antigens in patients with Fanconi were HLA-A02, HLA-B35 and DRB111. Moreover, in the patient group, the HLA-A23 allele was significantly lower than the control group. When we evaluated the patient group according to gender the HLA-A01 allele was significantly higher in the female patient group. Conclusion: Our study provides valuable insights into the genetic susceptibility of Turkish patients with Fanconi anemia, focusing on the role of HLA Class I and Class II alleles. HLA-B14 may be a risk factor and HLA-A23 may be protective for Fanconi anemia. These results contribute to our understanding of the complex genetic factors underlying Fanconi anemia and may have implications for improved diagnosis, prognosis, and potential therapeutic interventions for affected individuals.

 Purpose: Fanconi anemia FA is a childhood disorder inherited in an autosomal recessive manner. It is characterized by bone marrow failure, a range of congenital physical abnormalities, increased susceptibility to cancer, chromosomal instability, and heightened sensitivity to cross-linking agents. The aim of this study was to determine the role of the HLA Class I and Class II alleles in genetic susceptibility to Fanconi anemia in Turkish patients. Materials and Methods: In this study, we retrospectively evaluated the HLA-A, -B, and -DRB1 allele frequencies of patients with Fanconi anemia who underwent hematopoietic stem cell transplantation between 2010 and 2021. HLA-A, -B, -DR of all patients and healthy Turkish individuals were genotyped. Results: The study included 86 patients with Fanconi anemia and 300 healthy controls. The most common antigens in patients with Fanconi were HLA-A02, HLA-B35 and DRB111. Moreover, in the patient group, the HLA-A23 allele was significantly lower than the control group. When we evaluated the patient group according to gender the HLA-A01 allele was significantly higher in the female patient group. Conclusion: Our study provides valuable insights into the genetic susceptibility of Turkish patients with Fanconi anemia, focusing on the role of HLA Class I and Class II alleles. HLA-B14 may be a risk factor and HLA-A23 may be protective for Fanconi anemia. These results contribute to our understanding of the complex genetic factors underlying Fanconi anemia and may have implications for improved diagnosis, prognosis, and potential therapeutic interventions for affected individuals.

 Purpose: Fanconi anemia FA is a childhood disorder inherited in an autosomal recessive manner. It is characterized by bone marrow failure, a range of congenital physical abnormalities, increased susceptibility to cancer, chromosomal instability, and heightened sensitivity to cross-linking agents. The aim of this study was to determine the role of the HLA Class I and Class II alleles in genetic susceptibility to Fanconi anemia in Turkish patients. Materials and Methods: In this study, we retrospectively evaluated the HLA-A, -B, and -DRB1 allele frequencies of patients with Fanconi anemia who underwent hematopoietic stem cell transplantation between 2010 and 2021. HLA-A, -B, -DR of all patients and healthy Turkish individuals were genotyped. Results: The study included 86 patients with Fanconi anemia and 300 healthy controls. The most common antigens in patients with Fanconi were HLA-A02, HLA-B35 and DRB111. Moreover, in the patient group, the HLA-A23 allele was significantly lower than the control group. When we evaluated the patient group according to gender the HLA-A01 allele was significantly higher in the female patient group. Conclusion: Our study provides valuable insights into the genetic susceptibility of Turkish patients with Fanconi anemia, focusing on the role of HLA Class I and Class II alleles. HLA-B14 may be a risk factor and HLA-A23 may be protective for Fanconi anemia. These results contribute to our understanding of the complex genetic factors underlying Fanconi anemia and may have implications for improved diagnosis, prognosis, and potential therapeutic interventions for affected individuals.

 Amaç: Fanconi anemisi FA, kemik iliği yetmezliği, çeşitli konjenital fiziksel anomaliler, kansere yatkınlık, kromozomal instabilite ve çapraz bağlayıcı ajanlara karşı aşırı duyarlılık ile karakterize otozomal resesif geçişli bir çocukluk çağı hastalığıdır. Bu çalışmanın amacı, Türk hastalarda HLA Sınıf I ve Sınıf II alellerinin Fanconi anemisine genetik yatkınlıktaki rolünü belirlemektir. Gereç ve Yöntem: Bu çalışmada, 2010-2021 yılları arasında hematopoietik kök hücre nakli gerçekleşen Fanconi anemisi hastalarının HLA-A, -B, -DRB1 alel frekanslarını retrospektif olarak değerlendirdik. Tüm hastalara HLA tiplemesi yapıldı ve ayrıca sağlıklı Türk bireylerde de alelleri genotiplendirdik. Bulgular: Çalışmaya 86 Fanconi anemili hasta ve 300 sağlıklı control dahil edilmiştir. Fanconi hastalarında en yaygın antijenler HLA-A02, HLA-B35 ve DRB111 idi. Ayrıca, hasta grubunda HLA-A23 aleli kontrol grubuna göre anlamlı derecede düşüktü. Hasta grubunu cinsiyete göre değerlendirdiğimizde, HLA-A01 aleli kadın hasta grubunda anlamlı olarak daha yüksekti. Sonuç: Çalışmamız, HLA Sınıf I ve Sınıf II alellerinin rolüne odaklanarak, türk hastalarda Fanconi anemisinin genetik duyarlılığı hakkında değerli öngörüler sunmaktadır. HLA-B14, Fanconi anemisi için bir risk faktörü olabilirken, HLA-A23 koruyucu olabilir. Bu sonuçlar, Fanconi anemisinin karmaşık genetik faktörlerini anlamamıza katkıda bulunmakla beraber, etkilenen bireyler için daha iyi teşhis, prognoz ve potansiyel tedavi müdahaleleri açısından önemli olabilir.

Makale detayları

Frequency and relationship of HLA allele in Turkish patients with Fanconi anemia

Yazarlar:

Behnoush Nasr Zanjani | Hayriye Şentürk Çiftçi | Çiğdem Kekik Çınar | Tülin Tiraje Celkan | Nevin Yalman | Fatma Savran Oğuz

Yayıncı:

Cukurova University

Ana Başlıklar:

Çocuk Hematolojisi ve Onkolojisi | İmmünogenetik

Dergi:

Cukurova Medical Journal Vol.49 Issue 3, pp.607-613

Belge Tipi:

Makale

Yayın Tarihi:

9/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001327849

pISSN:

2602-3032

Fanconi anemia

HLA

genotyping

homozygosityFanconi anemisi

HLA

genotipleme

homozigotluk

Sayı

Makale detayları

Yazarlar: Behnoush Nasr Zanjani | Hayriye Şentürk Çiftçi | Çiğdem Kekik Çınar | Tülin Tiraje Celkan | Nevin Yalman | Fatma Savran Oğuz

Yayıncı: Cukurova University

Ana Başlıklar: Çocuk Hematolojisi ve Onkolojisi | İmmünogenetik

Dergi: Cukurova Medical Journal Vol.49 Issue 3, pp.607-613

Belge Tipi: Makale

Yayın Tarihi: 9/2024

Belge Dili: İngilizce

Document ID (Org No.): 2001327849

pISSN: 2602-3032

Sayı

Yazarlar:

Behnoush Nasr Zanjani | Hayriye Şentürk Çiftçi | Çiğdem Kekik Çınar | Tülin Tiraje Celkan | Nevin Yalman | Fatma Savran Oğuz

Yayıncı:

Cukurova University

Ana Başlıklar:

Çocuk Hematolojisi ve Onkolojisi | İmmünogenetik

Dergi:

Cukurova Medical Journal Vol.49 Issue 3, pp.607-613

Belge Tipi:

Makale

Yayın Tarihi:

9/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001327849

pISSN:

2602-3032