Association study of inflammatory genes with rheumatic heart disease in North Indian population: A multi-analytical approach

Gupta, Urvashi; Mir, Snober S.; Garg, Naveen; Agarwal, Surendra Kumar; Pande, Shantanu; Mittal, Balraj

doi:10.1016/j.imlet.2016.04.012

Cited by 10 publications

(17 citation statements)

References 58 publications

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“…Interleukin 1 beta (IL‐1β) SNP (‐511C>T, rs2853550) has been shown to play significant role in inflammatory diseases (Azad, Rojanasakul, & Vallyathan, ; Zienolddiny et al, ). Association between RHD and IL‐1β (‐511C>T, rs2853550) SNP (Chou et al, ; Gupta et al, ) have been investigated in Indian and Chinese populations, respectively. Gupta et al, associated the IL‐1β SNP with RHD in the Indian population, whereas earlier report showed no significant difference in the distribution of genotypes and allelic frequencies among Chinese RHD cases and healthy controls (Chou et al, ; Gupta et al, ).…”

Section: Resultsmentioning

confidence: 99%

“…Association between RHD and IL‐1β (‐511C>T, rs2853550) SNP (Chou et al, ; Gupta et al, ) have been investigated in Indian and Chinese populations, respectively. Gupta et al, associated the IL‐1β SNP with RHD in the Indian population, whereas earlier report showed no significant difference in the distribution of genotypes and allelic frequencies among Chinese RHD cases and healthy controls (Chou et al, ; Gupta et al, ). Meta‐analysis of the IL‐1β (rs2853550) SNP showed statistically significant association with RHD (Bhatt et al, ).…”

Section: Resultsmentioning

confidence: 99%

“…Meta‐analysis of the IL‐1β (rs2853550) SNP showed statistically significant association with RHD (Bhatt et al, ). The meta‐analysis included a total of 515 RHD cases from Asia (400 from India and 115 from China) and 463 controls (300 from India and 163 from China; Bhatt et al, ; Chou et al, ; Gupta et al, ).…”

Section: Resultsmentioning

confidence: 99%

“…Interleukin 1 beta (IL-1β) SNP (-511C>T, rs2853550) has been shown to play significant role in inflammatory diseases (Azad, Rojanasakul, & Vallyathan, 2008;Zienolddiny et al, 2004). Association between RHD and IL-1β (-511C>T, rs2853550) SNP (Chou et al, 2005;Gupta et al, 2016)…”

Section: Interleukin 1 Betamentioning

confidence: 99%

“…This is further supported by aberrant differences in cytokine gene expression between rheumatic fever (RF) and RHD patients compared with healthy controls (Guilherme et al, ). Candidate gene studies have also reported associations in genes such as Toll‐like receptor 2 ( TLR‐2 ; Berdeli, Celik, Ozyurek, Dogrusoz, & Aydin, ), tumor necrosis factor alpha ( TNF‐α ; Gupta et al, ), transforming growth factor beta 1 ( TGF‐β1 ; Kamal et al, ), mannose‐binding lectin 2 ( MBL2 ; Schafranski, Pereira Ferrari, Scherner, Torres, & Jensenius, 2008), and mannan‐binding lectin serine protease 2, also known as mannose‐binding protein‐associated serine protease 2 ( MASP2 ; Catarino et al, ).…”

Section: Introductionmentioning

confidence: 99%

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Genetic variants in rheumatic fever and rheumatic heart disease

Muhamed

Shaboodien

Engel

2020

American J of Med Genetics Pt C

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Genetic association studies in rheumatic heart disease (RHD) have the potential to contribute toward our understanding of the pathogenetic mechanism, and may shed light on controversies about RHD etiology. Furthermore, genetic association studies may uncover biomarkers that can be used to identify susceptible individuals, and contribute toward developing vaccine and novel therapeutic targets. Genetic predisposition to rheumatic fever and RHD has been hypothesized by findings from familial studies and observed associations between genes located in the human leukocyte antigens on chromosome 6p21.3 and elsewhere in the genome. We sought to summarize, from published Genetic association studies in RHD, evidence on genetic variants implicated in RHD susceptibility. Using HuGENet™ systematic review methods, we evaluated 66 studies reporting on 42 genes. Existing meta‐analyses of candidate gene studies suggest that TGF‐β1 [rs1800469], and IL‐1β [rs2853550] single nucleotide polymorphisms (SNPs) contribute to susceptibility to RHD, whereas the TNF‐α [rs1800629 and rs361525], TGF‐β1 [rs1800470 and rs4803457], IL‐6 [rs1800795], IL‐10 [rs1800896] were not associated with RHD. However, candidate gene studies in RF/RHD are relatively small, thus lacking statistical power to identify reliable and reproducible findings, emphasizing the need for large‐scale multicenter studies with different populations.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Interleukin 1 Betamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Genetic variants in rheumatic fever and rheumatic heart disease

Muhamed

Shaboodien

Engel

2020

American J of Med Genetics Pt C

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Influence of IL-1β, STAT3 & 5 and TLR-5 gene polymorphisms on rheumatic heart disease susceptibility in north Indian population

Bhatt

Kumar

Garg

et al. 2019

International Journal of Cardiology

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The Human Leukocyte Antigen Locus and Rheumatic Heart Disease Susceptibility in South Asians and Europeans

Auckland

Mittal

Cairns

et al. 2020

Sci Rep

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Rheumatic heart disease (RHD), an autoinflammatory heart disease, was recently declared a global health priority by the World Health organization. Here we report a genome-wide association study (GWAS) of RHD susceptibility in 1,163 South Asians (672 cases; 491 controls) recruited in India and Fiji. We analysed directly obtained and imputed genotypes, and followed-up associated loci in 1,459 Europeans (150 cases; 1,309 controls) from the UK Biobank study. We identify a novel susceptibility signal in the class iii region of the human leukocyte antigen (HLA) complex in the South Asian dataset that clearly replicates in the Europeans (rs201026476; combined odds ratio 1.81, 95% confidence intervals 1.51-2.18, P = 3.48×10 −10). importantly, this signal remains despite conditioning on the lead class i and class ii variants (P = 0.00033). These findings suggest the class III region is a key determinant of RHD susceptibility offering important new insight into pathogenesis while partly explaining the inconsistency of earlier reports. Rheumatic heart disease (RHD) is one of the leading causes of cardiovascular death and disability in children and young adults globally 1,2. The disease is caused by an aberrant immunological response to Streptococcus pyogenes (also termed group A streptococcus), a process that causes scarring and thickening of the heart valves 3. Beginning in childhood, RHD gradually causes the heart to fail, leading to complications including arrhythmias, stroke and early death 3. A recent analysis by the Global Burden of Disease Consortium estimated 319,400 deaths and 10.5 million disability-adjusted life-years (DALYs) each year globally due to RHD 2 , a substantial disease burden, especially in comparison to other diseases with infectious aetiology 4,5. In 2015, the highest age-standardised mortality due to RHD outside Oceania was observed in South Asia, with a total of 119,110 deaths in India alone 2. While much about the pathogenesis of RHD remains uncertain, the disease is generally considered to be autoimmune in nature with several factors relating to the pathogen itself and the environment of the host likely to impact risk 6. In addition, host genetic variation is widely thought to play a role 7 , not least because of the higher concordance of acute rheumatic fever among monozygotic compared to dizygotic twins 8. To date, two genome-wide association studies (GWAS) have been published: the first set in diverse populations in Oceania 9 , and the second in Aboriginal Australians 10. Consistent with several studies predating the GWAS era, which linked the disease to the human leukocyte antigen (HLA) complex on chromosome 6 11 , the Australian study found a signal that peaked in the class II region of HLA just below genome-wide significance, which was fine-mapped to a single nucleotide polymorphism (SNP) located within intron 1 of HLA-DQA1 10. The pre-GWAS results should be

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Association study of inflammatory genes with rheumatic heart disease in North Indian population: A multi-analytical approach

Cited by 10 publications

References 58 publications

Genetic variants in rheumatic fever and rheumatic heart disease

Genetic variants in rheumatic fever and rheumatic heart disease

Influence of IL-1β, STAT3 & 5 and TLR-5 gene polymorphisms on rheumatic heart disease susceptibility in north Indian population

The Human Leukocyte Antigen Locus and Rheumatic Heart Disease Susceptibility in South Asians and Europeans

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