Yıl 2020, Cilt 3 , Sayı 3, Sayfalar 168 - 172 2020-11-05

Sendromik Olmayan Microtia ve Glucocorticoid Receptor Genindeki BCL1 Variantının İlişkisi
The Relationship Between the BCL1 Variant of the Glucocorticoid Receptor Gene and Non-Syndromic Microtia

Ayşe Feyda NURSAL [1] , Kürşat ÖZDİLLİ [2] , Mehmet BEKERECİOĞLU [3] , Berker BÜYÜKGÜRAL [4] , Sacide PEHLİVAN [5]


Amaç: Microtia, basit izole küçük boyuttan tamamen kulak kaybına kadar farklı şiddet derecelerine sahip, kongenital kusurlu bir dış kulak olarak tanımlanır. Normal fetal gelişim, farklı fetal dokuların olgunlaşması ve gelişimi için kritik olan Glukokortikoidlerden (GK) etkilenir. Glukokortikoid reseptörleri (GR), GC’lerin fonksiyonlarını etkiler. Bu nedenle NR3C1 gen (GR kodlayan) BCL1 varyantı ile sendromik olmayan mikrotia gelişmesindeki rolü arasındaki ilişkiyi değerlendirmeyi amaçladık. Gereç ve Yöntem: Bu çalışmaya ondokuz mikrotia olgusu ve kırk sağlıklı kontrol dahil edildi. NR3C1 BCL1 varyantı polimeraz zincir reaksiyonu (PZR) ve sınırlayıcı parça uzunluk poliorfizmi (RFLP) yöntemini kullanarak genotipledik. Hastalar ve kontroller χ2 testi kullanılarak alel ve genotip dağılımı açısından karşılaştırıldı. Bulgular: NR3C1 BCL1 genotip dağılımı ve mikrotia arasında istatistiksel bir ilişki bulunmadı. Bununla birlikte, NR3C1 BCL1 varyant G aleli hastalarda sağlıklı kontrollere göre daha düşüktü (p=0.034, OR:2.411, 95%Cl: 1.115-5.212). Bu çalışmada, sonuçlarımız NR3C1 gen BCL1 varyantı G aleli taşıyan kişilerin daha düşük bir mikrotia riskine sahip olduğunu gösterdi. Sonuç: Bu gen varyantının, bozukluk riskinin gelişmesinde bir rolü olup olmadığını belirlemek için daha fazla çalışmaya ihtiyaç vardır.

Objective: Microtia is defined as a congenitally defective external ear which has different degrees of severity from a simple isolated reduced size to complete loss of the ear. Normal fetal development is affected by the Glucocorticoids (GCs), which are critical for the maturation and development of different fetal tissues. The glucocorticoid receptors (GR) influence the GCs' actions. Therefore, we aimed to evaluate the association between the NR3C1 (encoding GR) gene BCL1 variant and its role in the development of non-syndromic microtia. Materials and Methods: Nineteen cases with microtia and forty healthy controls enrolled in the present study. We genotyped the NR3C1 BCL1 variant using the polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (RFLP) method. The patients and controls were compared in terms of allele and genotype distribution using the χ2 test. Results: No statistical association was found between the NR3C1 BCL1 genotype distribution and microtia risk. However, the NR3C1 BCL1 variant G allele was lower in patients than in the healthy controls (p=0.034, OR:2.411, 95%Cl: 1.115-5.212) . In the current study, our results suggested that the subjects carrying the G allele in the NR3C1 gene BCL1 variant had a lower risk of microtia. Conclusion: Further studies are needed to determine whether this gene variant has a role in the risk of developing the disorder.

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Birincil Dil en
Konular Tıp
Bölüm Research Article
Yazarlar

Orcid: 0000-0001-7639-1122
Yazar: Ayşe Feyda NURSAL
Kurum: HITIT UNIVERSITY
Ülke: Turkey


Orcid: 0000-0002-7129-5024
Yazar: Kürşat ÖZDİLLİ
Kurum: ISTANBUL MEDIPOL UNIVERSITY
Ülke: Turkey


Orcid: 0000-0002-2422-7272
Yazar: Mehmet BEKERECİOĞLU
Kurum: KAHRAMANMARAS SUTCU IMAM UNIVERSITY, KAHRAMANMARAŞ VOCATIONAL SCHOOL
Ülke: Turkey


Orcid: 0000-0002-3308-8614
Yazar: Berker BÜYÜKGÜRAL
Kurum: Private Clinic for Plastic, Reconstructive & Aesthetic Surgery, Istanbul
Ülke: Turkey


Orcid: 0000-0003-1272-5845
Yazar: Sacide PEHLİVAN (Sorumlu Yazar)
Kurum: ISTANBUL UNIVERSITY, İSTANBUL FACULTY OF MEDICINE, ISTANBUL MEDICINE PR.
Ülke: Turkey


Tarihler

Başvuru Tarihi : 27 Ağustos 2020
Kabul Tarihi : 14 Ekim 2020
Yayımlanma Tarihi : 5 Kasım 2020

APA Nursal, A , Özdi̇lli̇, K , Bekereci̇oğlu, M , Büyükgüral, B , Pehli̇van, S . (2020). The Relationship Between the BCL1 Variant of the Glucocorticoid Receptor Gene and Non-Syndromic Microtia . Sağlık Bilimlerinde İleri Araştırmalar Dergisi , 3 (3) , 168-172 . Retrieved from https://dergipark.org.tr/tr/pub/sabiad/issue/57700/786359