دورية أكاديمية

Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India.

التفاصيل البيبلوغرافية
العنوان: Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India.
المؤلفون: Das KG; Allergy Immunology Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Bhattarai D; Allergy Immunology Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Kaur A; Genetic Metabolic Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Kaur A; Allergy Immunology Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Kumrah R; Allergy Immunology Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Srivastava P; Genetic Metabolic Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Rawat A; Allergy Immunology Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Singh S; Allergy Immunology Unit, Advanced Pediatrics Centre, PGIMER, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
المصدر: Journal of family medicine and primary care [J Family Med Prim Care] 2022 Sep; Vol. 11 (9), pp. 5404-5409. Date of Electronic Publication: 2022 Oct 14.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Medknow Country of Publication: India NLM ID: 101610082 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2249-4863 (Print) Linking ISSN: 22494863 NLM ISO Abbreviation: J Family Med Prim Care Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Mumbai : Medknow
مستخلص: 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.
Competing Interests: There are no conflicts of interest.
(Copyright: © 2022 Journal of Family Medicine and Primary Care.)
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فهرسة مساهمة: Keywords: CASP3 gene; Kawasaki Disease; coronary artery abnormalities; rs113420705; single nucleotide polymorphism
تواريخ الأحداث: Date Created: 20221212 Latest Revision: 20221221
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9731064
DOI: 10.4103/jfmpc.jfmpc_177_22
PMID: 36505637
قاعدة البيانات: MEDLINE
الوصف
تدمد:2249-4863
DOI:10.4103/jfmpc.jfmpc_177_22