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. 2022 Jan;65(1):246-249.
doi: 10.1007/s00125-021-05581-6. Epub 2021 Oct 7.

Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study

Jonathan M Locke  1 , Petra Dusatkova  2 , Kevin Colclough  3 , Alice E Hughes  4 , John M Dennis  4 , Beverley Shields  4 , Sarah E Flanagan  4 , Maggie H Shepherd  4   5 , Emma L Dempster  4 , Andrew T Hattersley  4 , Michael N Weedon  4 , Stepanka Pruhova  2 , Kashyap A Patel  6
Affiliations

Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study

Jonathan M Locke et al. Diabetologia. 2022 Jan.
No abstract available

Keywords: Birthweight; Hepatocyte nuclear factor-4 alpha (HNF4A); Maturity-onset diabetes of the young (MODY); Penetrance.

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Figures

Fig. 1
Fig. 1
HNF4A mutations are associated with a maternal glucose-independent increase in birthweight and a higher birthweight is associated with relative protection from diabetes. (a) Sex and gestation-corrected birthweights for individuals with HNF4A mutations, split by presence of maternal diabetes during pregnancy, and non-carrier relatives. p values were calculated by Mann–Whitney U tests. The horizontal line within each box represents the median, and the top and bottom of the box represent the 75th and 25th percentiles, respectively. The whiskers indicate the maximum and minimum values, excluding outliers. Filled circles indicate outliers. (b) Kaplan–Meier plot of survival from diabetes split by median birthweight for individuals with HNF4A mutations (n = 186)
See this image and copyright information in PMC

References

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    1. Hughes AE, Hattersley AT, Flanagan SE, Freathy RM. Two decades since the fetal insulin hypothesis: what have we learned from genetics? Diabetologia. 2021;64(4):717–726. doi: 10.1007/s00125-021-05386-7. - DOI - PMC - PubMed

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