Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in North Indian children with Kawasaki disease
© 2022. The Author(s), under exclusive licence to Springer Nature B.V..
BACKGROUND: Kawasaki disease (KD) is the commonest systemic vasculitis in children. It predisposes to development of coronary artery abnormalities (CAAs). Thrombomodulin (THBD) gene polymorphism rs1042579 is associated with high risk of cerebrovascular diseases. However, association of THBD polymorphism (rs1042579) and plasma thrombomodulin (TM) levels with susceptibility to KD and CAAs remains unclear.
METHODS AND RESULTS: Polymorphism in THBD gene (rs1042579) was analysed in 50 KD patients and 50 age, gender and ethnicity matched controls using Sanger sequencing. Plasma TM levels were measured by ELISA.
RESULTS: Mean plasma TM level (± SD) in KD patients was 2549.41 (± 853.18) pg/ml and in controls was 2298.03 (± 869.14) pg/ml; p = 0.042. Mean plasma TM levels in CC genotype was 2299.98 (± 834.88) pg/ml and in CT/TT genotype was 2837.96 (± 857.14) pg/ml; p = 0.005. Genotyping data did not reveal significant differences in patients with KD as compared to controls (p = 0.25), and in KD patients with and without CAAs (p = 0.407). Odds of finding T allele in cases were 2.07 times greater than in controls (p = 0.093).
CONCLUSIONS: This is the first study from India, and second in the world, that investigates association of THBD gene polymorphism with KD. This is also the first study to assess plasma TM levels in KD patients. Our data show that plasma TM levels were significantly higher in KD patients with CT/TT genotypes. Further, the polymorphism rs1042579 at exon 1 of THBD gene was found to be more common in KD patients than in controls although the difference was not statistically significant.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2022 |
|---|---|
| Erschienen: |
2022 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:49 |
|---|---|
| Enthalten in: |
Molecular biology reports - 49(2022), 8 vom: 19. Aug., Seite 7399-7407 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Singh, Ankita [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Etiology |
|---|
| Anmerkungen: |
Date Completed 25.07.2022 Date Revised 26.07.2022 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1007/s11033-022-07533-8 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM34110597X |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM34110597X | ||
| 003 | DE-627 | ||
| 005 | 20231226011016.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1007/s11033-022-07533-8 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1136.xml |
| 035 | |a (DE-627)NLM34110597X | ||
| 035 | |a (NLM)35587845 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Singh, Ankita |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in North Indian children with Kawasaki disease |
| 264 | 1 | |c 2022 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 25.07.2022 | ||
| 500 | |a Date Revised 26.07.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2022. The Author(s), under exclusive licence to Springer Nature B.V. | ||
| 520 | |a BACKGROUND: Kawasaki disease (KD) is the commonest systemic vasculitis in children. It predisposes to development of coronary artery abnormalities (CAAs). Thrombomodulin (THBD) gene polymorphism rs1042579 is associated with high risk of cerebrovascular diseases. However, association of THBD polymorphism (rs1042579) and plasma thrombomodulin (TM) levels with susceptibility to KD and CAAs remains unclear | ||
| 520 | |a METHODS AND RESULTS: Polymorphism in THBD gene (rs1042579) was analysed in 50 KD patients and 50 age, gender and ethnicity matched controls using Sanger sequencing. Plasma TM levels were measured by ELISA | ||
| 520 | |a RESULTS: Mean plasma TM level (± SD) in KD patients was 2549.41 (± 853.18) pg/ml and in controls was 2298.03 (± 869.14) pg/ml; p = 0.042. Mean plasma TM levels in CC genotype was 2299.98 (± 834.88) pg/ml and in CT/TT genotype was 2837.96 (± 857.14) pg/ml; p = 0.005. Genotyping data did not reveal significant differences in patients with KD as compared to controls (p = 0.25), and in KD patients with and without CAAs (p = 0.407). Odds of finding T allele in cases were 2.07 times greater than in controls (p = 0.093) | ||
| 520 | |a CONCLUSIONS: This is the first study from India, and second in the world, that investigates association of THBD gene polymorphism with KD. This is also the first study to assess plasma TM levels in KD patients. Our data show that plasma TM levels were significantly higher in KD patients with CT/TT genotypes. Further, the polymorphism rs1042579 at exon 1 of THBD gene was found to be more common in KD patients than in controls although the difference was not statistically significant | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Etiology | |
| 650 | 4 | |a Genetics | |
| 650 | 4 | |a India | |
| 650 | 4 | |a Kawasaki disease | |
| 650 | 4 | |a Single nucleotide polymorphisms | |
| 650 | 4 | |a Thrombomodulin gene | |
| 650 | 4 | |a Thrombomodulin levels | |
| 650 | 7 | |a THBD protein, human |2 NLM | |
| 650 | 7 | |a Thrombomodulin |2 NLM | |
| 700 | 1 | |a Rawat, Amit |e verfasserin |4 aut | |
| 700 | 1 | |a Kaur, Anit |e verfasserin |4 aut | |
| 700 | 1 | |a Kaur, Anupriya |e verfasserin |4 aut | |
| 700 | 1 | |a Kumrah, Rajni |e verfasserin |4 aut | |
| 700 | 1 | |a Johnson, Nameirakpam |e verfasserin |4 aut | |
| 700 | 1 | |a Chaudhary, Himanshi |e verfasserin |4 aut | |
| 700 | 1 | |a Pilania, Rakesh Kumar |e verfasserin |4 aut | |
| 700 | 1 | |a Srivastava, Priyanka |e verfasserin |4 aut | |
| 700 | 1 | |a Singh, Surjit |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Molecular biology reports |d 1973 |g 49(2022), 8 vom: 19. Aug., Seite 7399-7407 |w (DE-627)NLM000008168 |x 1573-4978 |7 nnns |
| 773 | 1 | 8 | |g volume:49 |g year:2022 |g number:8 |g day:19 |g month:08 |g pages:7399-7407 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1007/s11033-022-07533-8 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 49 |j 2022 |e 8 |b 19 |c 08 |h 7399-7407 | ||