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Genetic association study of ACE I/D, 4a/b of eNOS, rs1801133 of MTHFR, and T344C of CYP11B2 with chronic kidney disease (CKD) in the Jammu region of North Indian population

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Abstract

Chronic kidney diseases are described by the decreased ability of the kidney to perform its normal functions, which include removing waste products from the blood, controlling blood pressure, and producing erythropoietin. In the current molecular epidemiological study we aimed to find out the association between the ACE I/D, 4a/b of eNOS, rs1801133 of MTHFR, and T344C of CYP11B2 polymorphism and chronic kidney diseases (CKD) in the population of Jammu region of the north Indian population. Convenient-based random sampling and simple random sampling approach were utilized to draw patients and control respectively. DNA was isolated from the collected blood sample and after target sequence amplification, the PCR–RFLP genotyping method was utilized to detect polymorphism and the result was confirmed by statistical analysis. We observed that risk allele i.e., CC of T344C, 4a/b variation of eNOS and rs1801133 of MTHFR was found to be significantly associated with CKD with an association value of OR 1.33, 95% CIs [1.02–1.72] (p value = 0.007), OR 1.72, 95% CIs 1.72 [1.24–2.38] (p value = 0.001) and OR 5.98, 95% CIs [2.05–17.42] (p value = 0.0002) respectively. In conclusion, this molecular epidemiology study shows the variation in CYP11B2, eNOS, and MTHFR (T344C, 4a/b allele, and rs1801133 respectively) significantly increases the risk of CKD in the region of Jammu of the north Indian population.

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The data that has been generated in the present study, has been included in the manuscript.

Abbreviations

CKD:

Chronic kidney diseases

NKF:

National kidney foundation

eGFR:

Estimated glomerular filtration rate

GBD-2019:

Global burden disorder- 2019

ACE :

Angiotensin-converting enzyme

e-NOS :

Endothelial nitric oxide synthase

MTHFR :

Methylenetetrahydrofolate reductase

CYP11B2 :

Cytochrome P450 family 11 subfamily B member 2

VNTR:

Variable number of tandem repeats

ASCOMS:

Acharaya Shri Chander college of medical sciences

UT:

Union territory

EDTA:

Ethylenediaminetetraacetic acid solution

GAS:

Genetic association study

IEC:

Institutional ethical committee

GUI:

Graphical user interface

OR:

Odds ratio

CI:

Confidence interval

BMI:

Body mass index

WHR:

Waist hip ratio

SBP:

Systolic blood pressure

DBP:

Diastolic blood pressure

PR:

Pulse rate

FBS:

Fasting blood sugar

LDL-C:

Low density lipoprotein-cholesterol

HDL-C:

High-density lipoprotein-cholesterol

HWE:

Hardy–Weinberg equilibrium

ESRD:

End stage renal diseases

SF-1:

Steroidogenic transcription factor

HTN:

Hypertension

T2DM:

Type 2 diabetes

5,10-MTHF:

5,10-Methylenetetrahydrofolate

5-MTHF:

5-Methyltetrahydrofolate

CVD:

Cardio vascular diseases

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Acknowledgements

The authors gratefully acknowledged the patients and their family’s cooperation in giving their permission to participate in the study. Also the authors are highly thankful to Department of Nephrology, Government medical college, Jammu. The Institute of Human Genetics, University of Jammu, which provided the lab space, is also gratefully acknowledged by the authors.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. Department of Zoology, University of Jammu, Baba Saheb Ambedkar Road, Jammu, Jammu and Kashmir, 180006, India

    Meenakshi Bhagat, Isha Sharma, Rakesh K. Panjalia & Parvinder Kumar

  2. Institute of Human Genetics, University of Jammu, Baba Saheb Ambedkar Road, Jammu, Jammu and Kashmir, 180006, India

    Jyotdeep Kour Raina, Minakashee Sharma, Amrit Sudershan, Kanak Mahajan, Isha Sharma & Parvinder Kumar

  3. Department of Human Genetics, Gandhi Memorial Science College, Jammu, Cluster University of Jammu, Jammu, Jammu and Kashmir, 180006, India

    Jyotdeep Kour Raina

  4. Department of Human Genetics, Sri Pratap College, Srinagar, Cluster University of Srinagar, Kashmir, 190001, Jammu and Kashmir, India

    Amrit Sudershan

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  1. Meenakshi Bhagat
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Contributions

PK contributed to the study design, MB, JKR, MS and AS drafted the manuscript, edited the pictures and tables, MB, JKR, and MS analyse the data, MB, KM, IS collected the data, RKP and PK edited the manuscript, PK finalizes the manuscript.

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Correspondence to Parvinder Kumar.

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Bhagat, M., Raina, J.K., Sharma, M. et al. Genetic association study of ACE I/D, 4a/b of eNOS, rs1801133 of MTHFR, and T344C of CYP11B2 with chronic kidney disease (CKD) in the Jammu region of North Indian population. Nucleus (2023). https://doi.org/10.1007/s13237-023-00433-7

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