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Association of genetic variants and behavioral factors with the risk of metabolic syndrome in Pakistanis

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Abstract

Metabolic syndrome (MetS) is a cluster of cardio-metabolic risk factors. Genetic and environmental/behavioral factors are major predictors of MetS. We aimed to seek the association of genetic variants (FTO rs1421085, TMEM18 rs7561317, and NEGR1 rs2815752) with MetS in a sample of Pakistanis. Moreover, behavioral factors for the manifestation of MetS have also been assessed. A total of 612 subjects (MetS cases: 277; non-MetS controls: 335) were genotyped by allelic discrimination assays and their anthropometric parameters, blood pressure, and metabolic parameters were measured using standard procedures/biochemical analyses. In addition, the signs of acanthosis nigricans (AN) were examined and the tendency towards fat-dense food (TFDF) and the levels of physical activity (PA) were assessed by a questionnaire. The logistic regression analyses were used for association tests. The study revealed that among FTO rs1421085, TMEM18 rs7561317, and NEGR1 rs2815752, onlyTMEM18 rs7561317 was found to increase ~1.7 times the risk of having MetS according to the recessive model. The AN was identified as a clinical marker of MetS. Moreover, low PA and moderate-to-high TFDF were identified as the behavioral factors for increased risk of MetS. In conclusion, the rs7561317 may increase the MetS risk in Pakistanis independent of age, gender, and BMI. Moreover, the study identifies AN as a clinical marker of MetS and also emphasizes lifestyle interventions for countering the incidence of MetS.

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All data generated or analyzed during this study are included in this published article.

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Abbreviations

AHA:

American Heart Association

AN:

Acanthosis nigricans

BMI:

Body mass index

CI:

Confidence interval

DBP:

Diastolic blood pressure

FBG:

Fasting blood glucose

FTO :

Fat mass and obesity-associated

GRS:

Genetic risk score

GWAS :

Genome-wide association studies

HDL-C:

High-density lipoprotein cholesterol

HWE:

Hardy–Weinberg equilibrium

IDF:

International Diabetes Federation

IEC:

Independent Ethics Committee

LPA:

Low physical activity

MetS:

Metabolic syndrome

MRS:

Metabolic risk score

NCEP ATP III:

National Cholesterol Education Program/Adult Treatment Panel III

NEGR1 :

Neuronal growth regulator 1

NHLBI:

National Heart, Lung, and Blood Institute

OR:

Odds ratio

OW/OB:

Overweight/obesity

PA:

Physical activity

PCR:

Polymerase chain reaction

RA:

Risk allele

rs:

Reference sequence

SBP:

Systolic blood pressure

SD:

Standard deviation

TFDF:

Tendency towards fat dense food

TGs:

Triglycerides

TMEM18 :

Transmembrane protein 18

WC:

Waist circumference

WHO:

World Health Organization

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Acknowledgments

The authors appreciate all the study participants for their contribution to the study.

Funding

This study was funded by a research grant awarded by the Higher Education Commission (HEC) of Pakistan (Ref. No. 5740/Sindh/NRPU/R&D/HEC/2016) and a recurring grant awarded by the International Center for Chemical and Biological Sciences. The funding agencies did not contribute to any part of the study.

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Authors and Affiliations

Authors

Contributions

Adil Anwar Bhatti contributed to data curation, investigation, methodology, formal analysis, and in writing the original draft. Sobia Rana contributed to conceptualization, data curation, investigation, methodology, funding acquisition, supervision, and reviewing and editing the manuscript. Both authors read and approved the final manuscript.

Corresponding author

Correspondence to Sobia Rana.

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Ethics approval

All procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional Independent Ethics Committee (IEC) and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the Independent Ethics Committee (IEC) of the International Center for Chemical and Biological Sciences (ICCBS), University of Karachi, Pakistan.

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All study subjects or their parents/guardians signed the written informed consent before participation of the subjects in the study.

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Not applicable.

Conflict of interest

The authors declare that they have no conflicts of interest.

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Bhatti, A.A., Rana, S. Association of genetic variants and behavioral factors with the risk of metabolic syndrome in Pakistanis. Biologia 77, 829–839 (2022). https://doi.org/10.1007/s11756-021-00983-8

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  • DOI: https://doi.org/10.1007/s11756-021-00983-8

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