Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.

Viswanathan MohanVenkatesan RadhaThong T NguyenEric W StawiskiKanika Bajaj PahujaLeonard D GoldsteinJennifer TomRanjit Mohan AnjanaMonica Kong-BeltranTushar BhangaleSuresh JahnaviRadhakrishnan ChandniVijay GayathriPaul GeorgeNa ZhangSakthivel MuruganSameer PhalkeSubhra ChaudhuriRavi GuptaJingli ZhangSam SanthoshJeremy StinsonZora ModrusanV L RamprasadSomasekar SeshagiriAndrew S Peterson

Published in: BMC medical genetics (2018)

Our findings showed HNF1A and ABCC8 to be the most frequently mutated MODY genes in south India. Further we provide evidence for additional MODY relevant genes, such as NKX6-1, and these require further validation.

Keyphrases

genome wide
end stage renal disease
ejection fraction
type diabetes

newly diagnosed
cardiovascular disease
prognostic factors
copy number

genome wide identification
bioinformatics analysis
dna methylation
gene expression

immune response
glycemic control
skeletal muscle