Polymorphisms in the pituitary growth hormone gene and its receptor associated with coronary artery disease in a predisposed cohort from India

Maitra, Arindam; Shanker, Jayashree; Dash, Debabrata; Sannappa, Prathima R.; John, Shibu; Siwach, Pratibha; Rao, Veena S.; Hebbagodi, Sridhara; Kakkar, Vijay V.

doi:10.1007/s12041-010-0062-6

Cited by 5 publications

(1 citation statement)

References 45 publications

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“…In this study, we identified that the BWM gene SNP rs2005172 appears to have an impact on the pathological progression of renal fibrosis. The specific mechanism involves impairing glomerular permeability, stimulating epithelial–mesenchymal transition of podocytes, and promoting the expression of the fibrosis-associated classic molecule - transforming growth factor β ( 34 , 35 ). Meanwhile, rs35874463 has also been confirmed to enhance inflammatory responses and increase the transcription levels of the fibrosis signaling pathway transforming growth factor β/smads, thereby exacerbating renal fibrosis ( 36 , 37 ).…”

Section: Discussionmentioning

confidence: 99%

Whole-body water mass and kidney function: a Mendelian randomization study

Wei,

Long,

Fan

et al. 2024

Front. Endocrinol.

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BackgroundThe morbidity and mortality of chronic kidney disease (CKD) are increasing worldwide, making it a serious public health problem. Although a potential correlation between body water content and CKD progression has been suggested, the presence of a causal association remains uncertain. This study aimed to determine the causal effect of body water content on kidney function.MethodsGenome-wide association study summary data sourced from UK Biobank were used to evaluate single-nucleotide polymorphisms (SNPs) associated with whole-body water mass (BWM). The summary statistics pertaining to kidney function were extracted from the CKDGen consortium. The primary kidney function outcome measures included estimated glomerular filtration rate (eGFR), albuminuria, CKD stages 3–5, and rapid progression to CKD (CKDi25). Two-sample Mendelian randomization (MR) analysis estimated a potential causal relationship between the BWM and kidney function. The inverse variance weighted MR method was used as the primary analysis, accompanied by several sensitive MR analyses.ResultsThe increase of BWM exhibited a correlation with a reduction in eGFR (β = −0.02; P = 6.95 × 10−16). Excluding 13 SNPs responsible for pleiotropy (P = 0.05), the increase of BWM was also associated with the decrease of the ratio of urinary albumin to creatinine (β = −0.16; P = 5.91 × 10−36). For each standard deviation increase in BWM, the risk of CKD stages 3–5 increases by 32% (OR, 1.32; 95% CI, 1.19–1.47; P = 1.43 × 10−7), and the risk of CKDi25 increases by 22% (OR, 1.22; 95% CI, 1.07–1.38; P = 0.002).ConclusionThe increase of BWM is associated with impaired kidney function. Proactively managing body water content is of great significance in preventing the progression of CKD.

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Section: Discussionmentioning

confidence: 99%

Whole-body water mass and kidney function: a Mendelian randomization study

Wei,

Long,

Fan

et al. 2024

Front. Endocrinol.

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The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults

Martins

Fernandes-Rosa

Espineira

et al. 2014

Growth Hormone & IGF Research

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Genetics of coronary artery disease – A clinician's perspective

Sasidhar

Reddy

Naik³

et al. 2014

Indian Heart Journal

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Coronary artery disease (CAD) is the major cause of fatality and disability among all cardiovascular diseases (CVD). Intricate interactions of genes and environment dictate the outcomes of CAD. Technological advances in the different fields of genetics including linkage studies (LS), candidate gene studies (CGS) and genome-wide association studies (GWA studies) have augmented the knowledge of pathogenesis of CAD. LS were more successful in identifying genetic variants among monogenic disease. GWA studies were relatively popular in identification of variation in polygenic disease. Until now, GWA studies recognized about 50 loci determining around 6% of the heritability in CAD. Clinical utility of the above knowledge would result in better CAD management, but validation of the variants in native population is warranted for active adoption into the clinic. The major aim of this review is to provide an adequate perspective of our current understanding and advances of genetics in CAD.

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Polymorphisms in the pituitary growth hormone gene and its receptor associated with coronary artery disease in a predisposed cohort from India

Cited by 5 publications

References 45 publications

Whole-body water mass and kidney function: a Mendelian randomization study

Whole-body water mass and kidney function: a Mendelian randomization study

The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults

Genetics of coronary artery disease – A clinician's perspective

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