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  4. Vol 6, Issue 2, 2025

Clinical study of serum HCY and MTHFR gene C677T polymorphism in patients with uremia

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DOI: 10.23977/medsc.2025.060205 | Downloads: 16 | Views: 378

Author(s)

Li Dai 1, Zongjiang Zou 1, Juan Li 2

Affiliation(s)

1 Department of Internal Medicine, Second People's Hospital, Jiangjin District, Chongqing, 402289, China
2 Department of Scientific Research Management, Affiliated Hospital of Panzhihua University, Panzhihua, 617001, China

Corresponding Author

Juan Li

ABSTRACT

This study aims to elucidate the relationship between serum homocysteine (HCY) levels, methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism, and the prevalence of H-type hypertension and chronic kidney disease (CKD) in uremic patients in the Jiangjin region of Chongqing city. A cohort of 180 uremic patients admitted to our hospital between January 2020 and December 2023 was selected. The patients were categorized into three groups: H-type hypertension CKD group (n=90), common hypertension CKD group (n=43), and normal blood pressure CKD group (n=47). MTHFR C677T gene polymorphism was detected using Sanger sequencing, and HCY levels were measured. The frequencies of the CT and TT genotypes and the T allele were significantly elevated in the H-type hypertension group compared to the common hypertension and normal blood pressure groups (P < 0.05). The serum HCY level in the TT genotype group was higher than in the CC and CT genotype groups. Multiple linear regression analysis demonstrated a positive correlation between serum HCY levels and creatinine (P<0.005) and a negative correlation with glomerular filtration rate (eGFR) (P<0.005). No significant correlation was found between MTHFR genotype and serum creatinine (Scr) or eGFR (P>0.05). In conclusion, the MTHFR C677T gene mutation is associated with elevated serum HCY levels and H-type hypertension in uremic patients.  Elevated HCY levels are a risk factor for CKD development, although the gene mutation itself may not be directly implicated in the onset and progression of chronic kidney disease.

KEYWORDS

Uremia; serum homocysteine (HCY); methylenetetrahydrofolate reductase; gene polymorphism

CITE THIS PAPER

Li Dai, Zongjiang Zou, Juan Li, Clinical study of serum HCY and MTHFR gene C677T polymorphism in patients with uremia. MEDS Clinical Medicine (2025) Vol. 6: 32-37. DOI: http://dx.doi.org/10.23977/medsc.2025.060205.

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