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Krüppel-like factor 1 (KLF1) gene single nucleotide polymorphisms in sickle cell disease and its association with disease-related morbidities.

Ann Hematol. 2021 Feb;100(2):365-373. Epub 2021 Jan 03
Ravindra Kumar 1 , Rajiv Yadav 1 , Sweta Mishra 1 , M P S S Singh 1 , Anil Gwal 1 , Praveen K Bharti 1 , Shanmugam Rajasubramaniam 2
Ravindra Kumar 1 , Rajiv Yadav 1 , Sweta Mishra 1 , M P S S Singh 1 , Anil Gwal 1 , Praveen K Bharti 1 , Shanmugam Rajasubramaniam 2
+ et al

[No authors listed]

Author information
  • 1 ICMR-National Institute of Research in Tribal Health, Nagpur Road, P.O. Garha, Jabalpur, 482003, India.
  • 2 ICMR-National Institute of Research in Tribal Health, Nagpur Road, P.O. Garha, Jabalpur, 482003, India. raja.rmrct@gmail.com.

摘要


Sickle cell disease has varied clinical symptoms, and patients having high fetal hemoglobin (HbF) have milder symptoms. Various genetic factors are known to modulate the HbF levels. Krüppel-like factor 1 (KLF1) is a transcription factor that regulates the beta-like globin gene expression. Any variation in KLF1 gene may alter the sickle cell disease phenotype. Xmn-I polymorphism is also known to regulate the gamma globin gene expression. Present studies were carried out to investigate the effect of KLF1 gene mutations and Xmn-I polymorphism on the sickle cell disease severity and to ascertain the genotype-phenotype correlation. One hundred and eighteen sickle cell disease patients having a median follow-up of 5 years (3-10 years) were recruited. Clinical details were recorded from their retrospective medical records. Xmn-I polymorphism were analyzed using PCR-RFLP method. Variations in KLF1 gene were identified using Sanger sequencing. Out of 118 patients, 24 had acute chest syndrome and 21 patients had more than 2 pain episodes per year. There were no significant differences in sickle cell disease-related morbidities in male and females barring leg ulcers. A total of 6 polymorphism were observed in KLF1 gene, out of which 3 are novel (c.-304G > C, c.*141A > G and c.*178A > G). No statistically significant association of any of SNPs identified in KLF1 gene or Xmn-I polymorphism was seen with HbF levels as well as the sickle cell disease-related morbidities. No association exists between fetal hemoglobin or sickle cell disease-related morbidities and Xmn-I polymorphism or with SNPs identified in KLF1 gene in the studied cohort.

KEYWORDS: Fetal hemoglobin, Krüppel-like factor 1, Morbidities, Sickle cell disease, Xmn-I polymorphism