Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India
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 singl...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2022-01-01
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| Series: | Journal of Family Medicine and Primary Care |
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| Online Access: | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2022;volume=11;issue=9;spage=5404;epage=5409;aulast=Das |
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| author | K Gokul Das Dharmagat Bhattarai Anupriya Kaur Anit Kaur Rajni Kumrah Priyanka Srivastava Amit Rawat Surjit Singh |
| author_facet | K Gokul Das Dharmagat Bhattarai Anupriya Kaur Anit Kaur Rajni Kumrah Priyanka Srivastava Amit Rawat Surjit Singh |
| author_sort | K Gokul Das |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T10:55:23Z |
| format | Article |
| id | doaj.art-3026739c0b744d89a8e05de14cc68d87 |
| institution | Directory Open Access Journal |
| issn | 2249-4863 |
| language | English |
| last_indexed | 2024-04-13T10:55:23Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj.art-3026739c0b744d89a8e05de14cc68d872022-12-22T02:49:33ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632022-01-011195404540910.4103/jfmpc.jfmpc_177_22Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North IndiaK Gokul DasDharmagat BhattaraiAnupriya KaurAnit KaurRajni KumrahPriyanka SrivastavaAmit RawatSurjit SinghBackground: 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.http://www.jfmpc.com/article.asp?issn=2249-4863;year=2022;volume=11;issue=9;spage=5404;epage=5409;aulast=Dascasp3 genecoronary artery abnormalitieskawasaki diseasers113420705single nucleotide polymorphism |
| spellingShingle | K Gokul Das Dharmagat Bhattarai Anupriya Kaur Anit Kaur Rajni Kumrah Priyanka Srivastava Amit Rawat Surjit Singh Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India Journal of Family Medicine and Primary Care casp3 gene coronary artery abnormalities kawasaki disease rs113420705 single nucleotide polymorphism |
| title | Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India |
| title_full | Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India |
| title_fullStr | Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India |
| title_full_unstemmed | Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India |
| title_short | Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India |
| title_sort | association of single nucleotide polymorphism rs113420705 of casp3 in children with kawasaki disease from north india |
| topic | casp3 gene coronary artery abnormalities kawasaki disease rs113420705 single nucleotide polymorphism |
| url | http://www.jfmpc.com/article.asp?issn=2249-4863;year=2022;volume=11;issue=9;spage=5404;epage=5409;aulast=Das |
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