Ayşe Feyda NURSAL, Kürşat ÖZDİLLİ, Mehmet BEKERECİOĞLU, Berker BÜYÜKGÜRAL, Sacide PEHLİVAN

Sendromik Olmayan Microtia ve Glucocorticoid Receptor Genindeki BCL1 Variantının İlişkisi

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.

Anahtar Kelimeler:

Microtia, DNA, glukokortikoid reseptör, BCL1, varyant

The Relationship Between the BCL1 Variant of the Glucocorticoid Receptor Gene and Non-Syndromic Microtia

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.

Keywords:

Microtia, DNA, glucocorticoid receptor, BCL1, variant,

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