| Autor: |
K Gokul Das, Dharmagat Bhattarai, Anupriya Kaur, Anit Kaur, Rajni Kumrah, Priyanka Srivastava, Amit Rawat, Surjit Singh |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of Family Medicine and Primary Care, Vol 11, Iss 9, Pp 5404-5409 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2249-4863 |
| DOI: |
10.4103/jfmpc.jfmpc_177_22 |
| Popis: |
Background: Kawasaki disease is a pediatric, systemic, vasculitic disorder. Its exact etiology is still unknown. Genetic polymorphisms are being investigated as susceptibility factor for this disorder. These are likely to vary among different populations. Aim: To investigate the association of single nucleotide polymorphism (SNP) rs113420705 of CASP3 in Kawasaki disease (KD) from North India. Settings and Design: Observational, case–control study. Methods: Polymerase chain reaction and bidirectional Sanger sequencing was used for determining genotypes of SNP rs113420705 in 45 cases of KD and 50 healthy age- and sex-matched controls. Allele and genotype frequencies were assessed and compared between the groups. Results: Among 45 cases, 32 had TT (71.1%), 13 had CT (28.9%) and none had CC genotype of SNP rs113420705. No significant differences in allele, genotype, or carrier frequencies of rs113420705 were found between the two groups. A comparison was also made between subgroups of KD with coronary abnormality (7 children; 15.5%) and KD with normal coronaries (38 children; 84.4%). The C allele was significantly overexpressed in KD with coronary abnormality group (P = 0.005). However, no difference was noted in the genotype frequencies. Conclusion: CT genotype of rs113420705 of CASP3 showed a trend to significance with the occurrence of KD in children in North India. However, we could not establish any association between minor allele C and susceptibility to KD. C allele appeared to be over expressed in children with KD with coronary abnormalities. Larger studies will help us to reach conclusive evidence applicable to all ethnicities. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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