Paraoxonase Gene Polymorphism Analysis in Pediatric Diabetic Patients

Yıl 2025, Cilt: 52 Sayı: 3, 535 - 542, 16.09.2025

Pınar Kanlıoğlu Selahattin Tekeş , Ruken Yıldırım , Diclehan Oral , Yusuf Kenan Haspolat

https://doi.org/10.5798/dicletip.1785093

Öz

Objective: Identifying gene polymorphisms linked to childhood-onset diabetes mellitus (DM), a multifactorial disease, will illuminate its genetic underpinnings. This study aimed to explore the association between childhood DM and the polymorphisms Paraoxonase1 (PON1) 55 and PON1 192.
Method: A total of 129 children who applied to our Child Health and Diseases Endocrinology outpatient clinic participated in this prospective research. The study included 75 children with diabetes, aged 3–15 years (Patient Group-PG), and 54 healthy children (Control Group-CG) as a control. Genotyping of PON1 55 and PON1 192 polymorphisms was performed in study patients using Polymerase Chain Reaction (PCR) and RFLP methods following DNA isolation.
Results: Of 54 CG, 21 (38.9%) displayed the homozygous normal (LL) PON1 55 genotypes. The PG contained 25 (33.3%) homozygous normal patients out of 75. In the CG, 25 participants (46.3%) and 39 participants in the PG (52.0%) had the heterozygous (LM) genotype. The homozygous mutant (MM) genotype was observed in 8 (14.8%) of CG and 11 (14.7%) of PG. The CG showed 67 L alleles, representing 62.0% of the total alleles. On the other hand, the number was 89 (59.3%) in the PG. The two groups showed no statistically significant differences in gene polymorphisms, allele frequencies, and M and R allele distribution.
Conclusion: No significant relationship was observed between PON1 55 and PON1 192 gene polymorphisms and DM in our study.

Anahtar Kelimeler

Diabetes mellitus , DNA Extraction , Paraoxonase Gene , Polymerase Chain Reaction , Polymorphism

Etik Beyan

All procedures were conducted in accordance with institutional and national ethical standards, and the 2008 Helsinki Declaration revision. The ethics committee (Approval No. 334, 05.08.2014) approved our study, and we obtained informed consent from all participants’ legal representatives.

Pediatrik Diyabetik Hastalarda Paraoksonaz Gen Polimorfizm Analizi

Öz

Amaç: Çok faktörlü bir hastalık olan çocukluk çağı başlangıçlı diyabet (DM) ile ilişkili gen polimorfizmlerinin belirlenmesi, hastalığın genetik temellerini aydınlatacaktır. Bu çalışma, çocukluk çağı DM ile Paraoksonaz 1 (PON1) 55 ve PON1 192 polimorfizmleri arasındaki ilişkiyi araştırmayı amaçlamaktadır.
Yöntemler: Bu prospektif araştırmaya Çocuk Sağlığı ve Hastalıkları Endokrinoloji polikliniğimize başvuran toplam 129 çocuk katılmıştır. Çalışmaya 3-15 yaş arası 75 diyabetli çocuk (Hasta Grubu-HG) ve kontrol grubu olarak 54 sağlıklı çocuk (Kontrol Grubu-KG) dahil edilmiştir. Çalışma hastalarında DNA izolasyonunu takiben Polimeraz Zincir Reaksiyonu (PCR) ve RFLP yöntemleri kullanılarak PON1 55 ve PON1 192 polimorfizmlerinin genotiplendirmesi gerçekleştirildi.
Sonuçlar: 54 KG'nin 21'i (%38,9) homozigot normal (LL) PON1 55 genotipini gösterdi. PG, 75 hastanın 25'ini (%33,3) homozigot normal hastadan oluşturdu. KG'de 25 katılımcı (%46,3) ve HG'de 39 katılımcı (%52,0) heterozigot (LM) genotipe sahipti. Homozigot mutant (MM) genotipi, KG'nin 8'inde (%14,8) ve HG'nin 11'inde (%14,7) gözlendi. KG, toplam alellerin %62,0'sini temsil eden 67 L aleli gösterdi. HG'de ise bu sayı 89 (%59,3) idi. İki grup arasında gen polimorfizmleri, alel frekansları ve M ve R alel dağılımı açısından istatistiksel olarak anlamlı bir fark görülmedi.
Sonuç: Çalışmamızda PON1 55 ve PON1 192 gen polimorfizmleri ile DM arasında anlamlı bir ilişki gözlenmedi.

Anahtar Kelimeler

Diabetes mellitus , DNA Ekstraksiyonu , Paraoksonaz Geni , Polimeraz Zincir Reaksiyonu , Polimorfizm.

Kaynakça

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