PMID- 34784930
OWN - NLM
STAT- MEDLINE
DCOM- 20220302
LR  - 20220302
IS  - 1755-8794 (Electronic)
IS  - 1755-8794 (Linking)
VI  - 14
IP  - 1
DP  - 2021 Nov 16
TI  - 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.
PG  - 272
LID - 10.1186/s12920-021-01129-0 [doi]
LID - 272
AB  - 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.
CI  - (c) 2021. The Author(s).
FAU - Irgam, Kumuda
AU  - Irgam K
AD  - Department of Genetics and Biotechnology, Osmania University, Amberpet, 
      Hyderabad, Telangana, 500007, India.
FAU - Reddy, Battini Sriteja
AU  - Reddy BS
AD  - Dr Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation, 
      Vijayawada, Andhra Pradesh, 521286, India.
FAU - Hari, Sai Gayathri
AU  - Hari SG
AD  - Department of Genetics and Biotechnology, Osmania University, Amberpet, 
      Hyderabad, Telangana, 500007, India.
FAU - Banapuram, Swathi
AU  - Banapuram S
AD  - Department of Genetics and Biotechnology, Osmania University, Amberpet, 
      Hyderabad, Telangana, 500007, India.
FAU - Reddy, Battini Mohan
AU  - Reddy BM
AD  - Department of Genetics and Biotechnology, Osmania University, Amberpet, 
      Hyderabad, Telangana, 500007, India. bmrisi@gmail.com.
AD  - Molecular Anthropology Laboratory, Indian Statistical Institute, Street No. 8, 
      Habsiguda, Hyderabad, Telangana, 500007, India. bmrisi@gmail.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20211116
PL  - England
TA  - BMC Med Genomics
JT  - BMC medical genomics
JID - 101319628
SB  - IM
MH  - Alleles
MH  - Cohort Studies
MH  - Diabetes Mellitus, Type 2/*genetics/physiopathology
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - India
MH  - Infertility, Female/*genetics
MH  - Infertility, Male/*genetics
MH  - Male
MH  - Polymorphism, Single Nucleotide
PMC - PMC8597259
OTO - NOTNLM
OT  - Complex disorder
OT  - Ethnicity
OT  - Gender specific
OT  - Insulin resistance
OT  - Metabolic and reproductive pathways
OT  - SNPs
COIS- The authors state that they have no competing interests.
EDAT- 2021/11/18 06:00
MHDA- 2022/03/03 06:00
PMCR- 2021/11/16
CRDT- 2021/11/17 05:38
PHST- 2021/03/10 00:00 [received]
PHST- 2021/11/12 00:00 [accepted]
PHST- 2021/11/17 05:38 [entrez]
PHST- 2021/11/18 06:00 [pubmed]
PHST- 2022/03/03 06:00 [medline]
PHST- 2021/11/16 00:00 [pmc-release]
AID - 10.1186/s12920-021-01129-0 [pii]
AID - 1129 [pii]
AID - 10.1186/s12920-021-01129-0 [doi]
PST - epublish
SO  - BMC Med Genomics. 2021 Nov 16;14(1):272. doi: 10.1186/s12920-021-01129-0.