The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad

Abstract Background The genetic association studies of type 2 diabetes mellitus (T2DM) hitherto undertaken among the Indian populations are grossly inadequate representation of the ethnic and geographic heterogeneity of the country. In view of this and due to the inconsistent nature of the results o...

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Autores principales:	Kumuda Irgam, Battini Sriteja Reddy, Sai Gayathri Hari, Swathi Banapuram, Battini Mohan Reddy
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Complex disorder Ethnicity Gender specific Insulin resistance Metabolic and reproductive pathways SNPs Internal medicine RC31-1245 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/1f2b51f1526f4ce9af4a7236b6f93f2d
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spelling	oai:doaj.org-article:1f2b51f1526f4ce9af4a7236b6f93f2d2021-11-21T12:04:25ZThe genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad10.1186/s12920-021-01129-01755-8794https://doaj.org/article/1f2b51f1526f4ce9af4a7236b6f93f2d2021-11-01T00:00:00Zhttps://doi.org/10.1186/s12920-021-01129-0https://doaj.org/toc/1755-8794Abstract Background The genetic association studies of type 2 diabetes mellitus (T2DM) hitherto undertaken among the Indian populations are grossly inadequate representation of the ethnic and geographic heterogeneity of the country. In view of this and due to the inconsistent nature of the results of genetic association studies, it would be prudent to undertake large scale studies in different regions of India considering wide spectrum of variants from the relevant pathophysiological pathways. Given the reproductive dysfunctions associated with T2DM, it would be also interesting to explore if some of the reproductive pathway genes are associated with T2DM. The present study is an attempt to examine these aspects in the southern Indian population of Hyderabad. Methods A prioritized panel of 92 SNPs from a large number of metabolic and reproductive pathway genes was genotyped on 500 cases and 500 controls, matched for ethnicity, age and BMI, using AGENA MassARRAYiPLEX™ platform. Results The allelic association results suggested 14 SNPs to be significantly associated with T2DM at P ≤ 0.05 and seven of those—rs2241766-G (ADIPOQ), rs6494730-T (FEM1B), rs1799817-A and rs2059806-T (INSR), rs11745088-C (FST), rs9939609-A and rs9940128-A (FTO)—remained highly significant even after correction for multiple testing. A great majority of the significant SNPs were risk in nature. The ROC analysis of the risk scores of the significant SNPs yielded an area under curve of 0.787, suggesting substantial power of our study to confer these genetic variants as predictors of risk for T2DM. Conclusions The associated SNPs of this study are known to be specifically related to insulin signaling, fatty acid metabolism and reproductive pathway genes and possibly suggesting the role of overlapping phenotypic features of insulin resistance, obesity and reproductive dysfunctions inherent in the development of diabetes. Large scale studies involving gender specific approach may be required in order to identify the precise nature of population and gender specific risk profiles for different populations, which might be somewhat distinct.Kumuda IrgamBattini Sriteja ReddySai Gayathri HariSwathi BanapuramBattini Mohan ReddyBMCarticleComplex disorderEthnicityGender specificInsulin resistanceMetabolic and reproductive pathwaysSNPsInternal medicineRC31-1245GeneticsQH426-470ENBMC Medical Genomics, Vol 14, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Complex disorder Ethnicity Gender specific Insulin resistance Metabolic and reproductive pathways SNPs Internal medicine RC31-1245 Genetics QH426-470
spellingShingle	Complex disorder Ethnicity Gender specific Insulin resistance Metabolic and reproductive pathways SNPs Internal medicine RC31-1245 Genetics QH426-470 Kumuda Irgam Battini Sriteja Reddy Sai Gayathri Hari Swathi Banapuram Battini Mohan Reddy The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad
description	Abstract Background The genetic association studies of type 2 diabetes mellitus (T2DM) hitherto undertaken among the Indian populations are grossly inadequate representation of the ethnic and geographic heterogeneity of the country. In view of this and due to the inconsistent nature of the results of genetic association studies, it would be prudent to undertake large scale studies in different regions of India considering wide spectrum of variants from the relevant pathophysiological pathways. Given the reproductive dysfunctions associated with T2DM, it would be also interesting to explore if some of the reproductive pathway genes are associated with T2DM. The present study is an attempt to examine these aspects in the southern Indian population of Hyderabad. Methods A prioritized panel of 92 SNPs from a large number of metabolic and reproductive pathway genes was genotyped on 500 cases and 500 controls, matched for ethnicity, age and BMI, using AGENA MassARRAYiPLEX™ platform. Results The allelic association results suggested 14 SNPs to be significantly associated with T2DM at P ≤ 0.05 and seven of those—rs2241766-G (ADIPOQ), rs6494730-T (FEM1B), rs1799817-A and rs2059806-T (INSR), rs11745088-C (FST), rs9939609-A and rs9940128-A (FTO)—remained highly significant even after correction for multiple testing. A great majority of the significant SNPs were risk in nature. The ROC analysis of the risk scores of the significant SNPs yielded an area under curve of 0.787, suggesting substantial power of our study to confer these genetic variants as predictors of risk for T2DM. Conclusions The associated SNPs of this study are known to be specifically related to insulin signaling, fatty acid metabolism and reproductive pathway genes and possibly suggesting the role of overlapping phenotypic features of insulin resistance, obesity and reproductive dysfunctions inherent in the development of diabetes. Large scale studies involving gender specific approach may be required in order to identify the precise nature of population and gender specific risk profiles for different populations, which might be somewhat distinct.
format	article
author	Kumuda Irgam Battini Sriteja Reddy Sai Gayathri Hari Swathi Banapuram Battini Mohan Reddy
author_facet	Kumuda Irgam Battini Sriteja Reddy Sai Gayathri Hari Swathi Banapuram Battini Mohan Reddy
author_sort	Kumuda Irgam
title	The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad
title_short	The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad
title_full	The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad
title_fullStr	The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad
title_full_unstemmed	The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad
title_sort	genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern indian population of hyderabad
publisher	BMC
publishDate	2021
url	https://doaj.org/article/1f2b51f1526f4ce9af4a7236b6f93f2d
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The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad

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