TÜRK SAĞLIKLI BİREYLERDE CDKAL1 rs7754840 G>C POLİMORFİZMİNİN ALEL VE GENOTİP SIKLIKLARI: POPÜLASYON TEMELLİ BİR ÇALIŞMA

Abstract

Amaç: CDKAL1 rs7754840 G>C polimorfizmi, kusurlu insülin salınımı ve tip 2 diyabet riskinin artmasıyla bağlantılıdır. Bu araştırmanın amacı, sağlıklı Türk bireylerde rs7754840 G>C polimorfizminin alel ve genotip sıklıklarını belirlemek ve bunları diğer popülasyonlarda gözlenen sıklıklarla karşılaştırmaktır. Bulgular ayrıca, diyabet riski ve tedavi yanıtı üzerindeki rolü hakkındaki önceki araştırmalara dayanarak tartışılmıştır.

Gereç ve Yöntem: CDKAL1 rs7754840 polimorfizmi, 112 sağlıklı Türk bireyden alınan DNA örneklerinde polimeraz zincir reaksiyonu ve restriksiyon fragman uzunluk polimorfizmi yöntemiyle incelendi. Alel ve genotip sıklıkları değerlendirildi ve farklı popülasyonlardan elde edilen verilerle istatistiksel olarak karşılaştırıldı.

Sonuç ve Tartışma: Genotip analizinde homozigot varyant için %7.1, heterozigot için %40.2 ve homozigot yabanıl tip için %52.7 sıklıkları belirlendi; bu da %27.2 (varyant) ve %72.8 (yabanıl tip) alel sıklıklarına karşılık geliyordu. CDKAL1 rs7754840 varyant alelinin sıklıkları, Amerikan, Finli olmayan Avrupalı, Güney Asyalı ve çoğu Doğu Asyalı popülasyonda belirlenen sıklıklarla tutarlıydı (p>0,05). Ancak, varyant alel sıklığı Afrika kökenli popülasyonlarda bildirilen sıklıktan önemli ölçüde farklıydı. Sonuç olarak, bu araştırma sağlıklı Türk bireylerinde CDKAL1 rs7754840 varyantının sıklığı hakkında güncel veriler sunmaktadır. Türk popülasyonu ile diğer bazı etnik gruplar arasında genotip ve alel frekanslarının önemli ölçüde farklı olduğu gözlemlendi. Bu bulguların genetik epidemiyoloji, farmakogenetik ve kişiselleştirilmiş tıp alanındaki gelecekteki araştırmalara katkı sağlayabilir.

Keywords

• CDKAL1
• polimorfizm
• rs7754840
• Türk popülasyonu

Supporting Institution

Yazarlar bu çalışma için herhangi bir finansal destek sağlanmadığını bildirmektedirler.

Ethical Statement

Çalışma için Mersin Üniversitesi Etik Kurulu'ndan onay alındı ​​(02 Eylül 2020, Referans Numarası: 2020/614). Bu çalışmada kullanılan DNA örnekleri, Mersin Üniversitesi Etik Kurulu tarafından daha önce onaylanan bir projeden elde edildi (22 Ekim 2015, Referans Numarası: 2015/317). Kan alımı sırasında tüm gönüllülerden yazılı onam alındı.

ALLELE AND GENOTYPE FREQUENCIES OF THE CDKAL1 rs7754840 G>C POLYMORPHISM IN TURKISH HEALTHY INDIVIDUALS: A POPULATION-BASED STUDY

Abstract

Objective: The CDKAL1 rs7754840 G>C polymorphism is link to defective insulin release and an elevated risk of type 2 diabetes mellitus. The objective of the current research was to identify the frequencies of alleles and genotypes for the rs7754840 G>C polymorphism in healthy Turkish individuals and to contrast them with those observed in other populations. The findings were also discussed based on previous research about its role in diabetes risk and treatment response.

Material and Method: The CDKAL1 rs7754840 polymorphism was examined in DNA samples obtained from 112 healthy Turkish subjects through polymerase chain reaction and restriction fragment length polymorphism process. Allele and genotype frequencies were assessed and statistically compared with data from diverse populations.

Result and Discussion: Genotype analysis revealed frequencies of 7.1% for homozygous variant, 40.2% for heterozygous, and 52.7% for homozygous witd-type, corresponding to allele frequencies of 27.2% (variant) and 72.8% (wild-type). The frequencies of the CDKAL1 rs7754840 variant allele were consistent with those determined in American, non-Finnish European, South Asian, and most East Asian populations (p>0.05). However, the variant allele frequency differed significantly from that reported in populations of Black ancestry. In conclusion, the present research offers current data on the frequency of the CDKAL1 rs7754840 variant in healthy Turkish individuals. Genotype and allele frequencies were observed to be significantly distinct between the Turkish population and several other ethnic groups. These findings may contribute to future research in genetic epidemiology, pharmacogenetics, and personalized medicine.

Keywords

• CDKAL1
• polymorphism
• rs7754840
• Turkish population

Supporting Institution

The authors report that no financial support was provided for this study.

Ethical Statement

Approval for the study was received from the Mersin University Ethics Committee (02 September 2020, Reference Number: 2020/614). The DNA samples utilized in this study were derived from a previous project endorsed by the Mersin University Ethics Committee (22 October 2015, Reference Number: 2015/317). Written informed consent was received from all volunteers during blood collection.

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