Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils.

IF 2 3区 生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Journal of Applied Genetics Pub Date : 2025-03-14 DOI:10.1007/s13353-025-00955-7
G Priyadarshini, A Dhinesh, Sreejith Parameswaran, Jayaprakash Sahoo, Sandhiya Selvarajan, Medha Rajappa
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引用次数: 0

Abstract

The progressive degradation of the renal parenchyma and reduction of functional nephrons characterise chronic kidney disease (CKD). Disorders of bone mineral metabolism is one of the leading causes of morbidity and mortality in CKD. Calcium-sensing receptor (CASR) allows cells to detect changes in blood calcium levels and regulate its concentration. Hence, we aim to study the relationship between genetic variants of CASR and CKD and their relation with mineral bone disease (MBD). A total of 180 CKD patients and 180 controls were recruited. Bone mineral density of the lumbar spine, hip, and forearm was measured using a dual X-ray absorptiometry (DEXA) scan. Circulating levels of parathyroid hormone (PTH) were measured by ELISA. Genotyping was done by real-time quantitative PCR. A significant difference in the distribution of the GAG haplotype (rs7652589, rs1501899, rs1801725) was observed between CKD patients and controls. Participants with the GT genotype of rs1801725 had lower BMD in the forearm. The TT genotype of rs1801725 was associated with decreased serum calcium levels. A regression model indicated that the GT genotype of rs1801725 and AG and GG genotypes of rs7652589 were significant predictors of forearm BMD. GAG haplotype of CASR SNPs is linked to CKD risk in South Indian Tamils. GT genotype of rs1801725 and AG and GG genotype of rs7652589 are independent predictors of MBD in patients with CKD.

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来源期刊
Journal of Applied Genetics
Journal of Applied Genetics 生物-生物工程与应用微生物
CiteScore
4.30
自引率
4.20%
发文量
62
审稿时长
6-12 weeks
期刊介绍: The Journal of Applied Genetics is an international journal on genetics and genomics. It publishes peer-reviewed original papers, short communications (including case reports) and review articles focused on the research of applicative aspects of plant, human, animal and microbial genetics and genomics.
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Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils. Pivotal role of biallelic frequency analysis in identifying copy number alterations using genome-wide methods in tumors with a high level of aneuploidy. MiRNA signature analysis in LSCC gene expression profiles indicates hsa-miR-299-5p as a new tumor suppressor. Identification of SNP markers associated with yield in winter oilseed rape (Brassica napus L.) hybrids. Endometrial factors and pregnancy loss frequency in recurrent pregnancy loss patients: comparing RT-PCR microbiology, microbial cultures, and immunohistochemistry of endometrium biopsy.
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