Genetic influences on the association between fetal growth and susceptibility to type 2 diabetes

Journal of Developmental Origins of Health and Disease

Volumn 1, Issue 2, 2010, Pages 96-105

  Shields, B M ^a   Freathy, R M ^a   Hattersley, A T ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

birth weight; diabetes; fetal; genetic

Indexed keywords

EID: 84863630711     PISSN: 20401744     EISSN: 20401752     Source Type: Journal    
DOI: 10.1017/S2040174410000127     Document Type: Review

References (118)

1. Godfrey, K. The developmental origins hypothesis: epidemiology. In Developmental Origins of Health and Disease (eds. Gluckman PD, Hanson MA), 2006; pp. 6–32. Cambridge University Press, Cambridge.
2. Barker, DJP. Mothers, Babies and Health in Later Life. 1998. Harcourt Brace & Co Ltd, Edinburgh.
3. Yajnik, CS, Godbole, K, Otiv, SR, Lubree, HG. Fetal programming of type 2 diabetes: is sex important? Diabetes Care. 2007; 30, 2754–2755.
4. Poulsen, P, Grunnet, LG, Pilgaard, K, et-al. Increased risk of type 2 diabetes in elderly twins. Diabetes. 2009; 58, 1350–1355.
5. Poulsen, P, Vaag, AA, Kyvik, KO, Moller Jensen, D, Beck-Nielsen, H. Low birth weight is associated with NIDDM in discordant monozygotic and dizygotic twin pairs. Diabetologia. 1997; 40, 439–446.
6. Hattersley, AT, Tooke, JE. The fetal insulin hypothesis: an alternative explanation of the association of low birthweight with diabetes and vascular disease. Lancet. 1999; 353, 1789–1792.
7. Kramer, MS. Determinants of low birth weight: methodological assessment and meta-analysis. Bull World Health Organ. 1987; 65, 663–737.
8. Cogswell, ME, Yip, R. The influence of fetal and maternal factors on the distribution of birthweight. Semin Perinatol. 1995; 19, 222–240.
9. Guihard-Costa, AM, Grange, G, Larroche, JC, Papiernik, E. Sexual differences in anthropometric measurements in French newborns. Biol Neonate. 1997; 72, 156–164.
10. Guihard-Costa, AM, Papiernik, E, Grange, G, Richard, A. Gender differences in neonatal subcutaneous fat store in late gestation in relation to maternal weight gain. Ann Hum Biol. 2002; 29, 26–36.
11. Copper, RL, Goldenberg, RL, Cliver, SP, et-al. Anthropometric assessment of body size differences of full-term male and female infants. Obstet Gynecol. 1993; 81, 161–164.
12. Yajnik, CS, Fall, CH, Coyaji, KJ, et-al. Neonatal anthropometry: the thin-fat Indian baby. The Pune Maternal Nutrition Study. Int J Obes Relat Metab Disord. 2003; 27, 173–180.
13. Shields, BM, Knight, BA, Powell, RJ, Hattersley, AT, Wright, DE. Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size. BMC Pediatr. 2006; 6, 24.
14. Shiono, PH, Klebanoff, MA, Graubard, BI, Berendes, HW, Rhoads, GG. Birth weight among women of different ethnic groups. JAMA. 1986; 255, 48–52.
15. Yajnik, CS, Lubree, HG, Rege, SS, et-al. Adiposity and hyperinsulinemia in Indians are present at birth. J Clin Endocrinol Metab. 2002; 87, 5575–5580.
16. Denham, M, Schell, LM, Gallo, M, Stark, A. Neonatal size of low socio-economic status Black and White term births in Albany County, NYS. Ann Hum Biol. 2001; 28, 172–183.
17. Tanner, JM, Lejarraga, H, Turner, G. Within-family standards for birth-weight. Lancet. 1972; 2, 193–197.
18. Morton, NE. The inheritance of human birth weight. Ann Hum Genet. 1955; 20, 125–134.
19. Langhoff-Roos, J, Lindmark, G, Gustavson, KH, Gebre-Medhin, M, Meirik, O. Relative effect of parental birth weight on infant birth weight at term. Clin Genet. 1987; 32, 240–248.
20. Hennessy, E, Alberman, E. Intergenerational influences affecting birth outcome. I. Birthweight for gestational age in the children of the 1958 British birth cohort. Paediatr Perinat Epidemiol. 1998; 12(Suppl 1), 45–60.
21. Catalano, PM, Drago, NM, Amini, SB. Factors affecting fetal growth and body composition. Am J Obstet Gynecol. 1995; 172, 1459–1463.
22. Wilcox, MA, Newton, CS, Johnson, IR. Paternal influences on birthweight. Acta Obstet Gynecol Scand. 1995; 74, 15–18.
23. Knight, B, Shields, BM, Turner, M, et-al. Evidence of genetic regulation of fetal longitudinal growth. Early Hum Dev. 2005; 81, 823–831.
24. Klebanoff, MA, Mednick, BR, Schulsinger, C, Secher, NJ, Shiono, PH. Father's effect on infant birth weight. Am J Obstet Gynecol. 1998; 178, 1022–1026.
25. Magnus, P. Causes of variation in birth weight: a study of offspring of twins. Clin Genet. 1984; 25, 15–24.
26. Magnus, P. Further evidence for a significant effect of fetal genes on variation in birth weight. Clin Genet. 1984; 26, 289–296.
27. Magnus, P, Berg, K, Bjerkedal, T, Nance, WE. Parental determinants of birth weight. Clin Genet. 1984; 26, 397–405.
28. Magnus, P, Gjessing, HK, Skrondal, A, Skjaerven, R. Paternal contribution to birth weight. J Epidemiol Community Health. 2001; 55, 873–877.
29. Gielen, M, Lindsey, PJ, Derom, C, et-al. Modeling genetic and environmental factors to increase heritability and ease the identification of candidate genes for birth weight: a twin study. Behav Genet. 2008; 38, 44–54.
30. Lunde, A, Melve, KK, Gjessing, HK, Skjaerven, R, Irgens, LM. Genetic and environmental influences on birth weight, birth length, head circumference, and gestational age by use of population-based parent-offspring data. Am J Epidemiol. 2007; 165, 734–741.
31. Clausson, B, Lichtenstein, P, Cnattingius, S. Genetic influence on birthweight and gestational length determined by studies in offspring of twins. BJOG. 2000; 107, 375–381.
32. Vlietinck, R, Derom, R, Neale, MC, et-al. Genetic and environmental variation in the birth weight of twins. Behav Genet. 1989; 19, 151–161.
33. Johnston, LB, Clark, AJ, Savage, MO. Genetic factors contributing to birth weight. Arch Dis Child Fetal Neonatal Ed. 2002; 86, F2–F3.
34. Li, M, Squire, JA, Weksberg, R. Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet. 1998; 79, 253–259.
35. Fisher, AM, Thomas, NS, Cockwell, A, et-al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet. 2002; 111, 290–296.
36. King, H, Rewers, M. Global estimates for prevalence of diabetes mellitus and impaired glucose tolerance in adults. WHO Ad Hoc Diabetes Reporting Group. Diabetes Care. 1993; 16, 157–177.
37. Barroso, I. Genetics of Type 2 diabetes. Diabet Med. 2005; 22, 517–535.
38. Gloyn, AL, McCarthy, MI. The genetics of type 2 diabetes. Best Pract Res Clin Endocrinol Metab. 2001; 15, 293–308.
39. Rich, SS. Mapping genes in diabetes. Genetic epidemiological perspective. Diabetes. 1990; 39, 1315–1319.
40. Stumvoll, M, Goldstein, BJ, van Haeften, TW. Type 2 diabetes: principles of pathogenesis and therapy. Lancet. 2005; 365, 1333–1346.
41. Altshuler, D, Hirschhorn, JN, Klannemark, M, et-al. The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet. 2000; 26, 76–80.
42. Gloyn, AL, Weedon, MN, Owen, KR, et-al. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes. 2003; 52, 568–572.
43. Grant, SF, Thorleifsson, G, Reynisdottir, I, et-al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet. 2006; 38, 320–323.
44. Sandhu, MS, Weedon, MN, Fawcett, KA, et-al. Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet. 2007; 39, 951–953.
45. Winckler, W, Weedon, MN, Graham, RR, et-al. Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes. 2007; 56, 685–693.
46. Gudmundsson, J, Sulem, P, Steinthorsdottir, V, et-al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet. 2007; 39, 977–983.
47. Prokopenko, I, Langenberg, C, Florez, JC, et-al. Variants in MTNR1B influence fasting glucose levels. Nat Genet. 2009; 41, 77–81.
48. Sladek, R, Rocheleau, G, Rung, J, et-al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007; 445, 881–885.
49. Zeggini, E, Weedon, MN, Lindgren, CM, et-al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007; 316, 1336–1341.
50. Saxena, R, Voight, BF, Lyssenko, V, et-al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007; 316, 1331–1336.
51. Scott, LJ, Mohlke, KL, Bonnycastle, LL, et-al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007; 316, 1341–1345.
52. Steinthorsdottir, V, Thorleifsson, G, Reynisdottir, I, et-al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet. 2007; 39, 770–775.
53. Frayling, TM, Timpson, NJ, Weedon, MN, et-al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science. 2007; 316, 889–894.
54. Zeggini, E, Scott, LJ, Saxena, R, et-al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet. 2008; 40, 638–645.
55. Yasuda, K, Miyake, K, Horikawa, Y, et-al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet. 2008; 40, 1092–1097.
56. Unoki, H, Takahashi, A, Kawaguchi, T, et-al. SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet. 2008; 40, 1098–1102.
57. Lyssenko, V, Nagorny, CL, Erdos, MR, et-al. Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet. 2009; 41, 82–88.
58. Bouatia-Naji, N, Bonnefond, A, Cavalcanti-Proenca, C, et-al. A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk. Nat Genet. 2009; 41, 89–94.
59. Rung, J, Cauchi, S, Albrechtsen, A, et-al. Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. Nat Genet. 2009; 41, 1110–1115.
60. Prokopenko, I, McCarthy, MI, Lindgren, CM. Type 2 diabetes: new genes, new understanding. Trends Genet. 2008; 24, 613–621.
61. Weedon, MN, McCarthy, MI, Hitman, G, et-al. Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med. 2006; 3, e374.
62. Lango, H, Palmer, CN, Morris, AD, et-al. Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes. 2008; 57, 3129–3135.
63. Lyssenko, V, Jonsson, A, Almgren, P, et-al. Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med. 2008; 359, 2220–2232.
64. van Hoek, M, Dehghan, A, Witteman, JC, et-al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes. 2008; 57, 3122–3128.
65. Meigs, JB, Shrader, P, Sullivan, LM, et-al. Genotype score in addition to common risk factors for prediction of type 2 diabetes. N Engl J Med. 2008; 359, 2208–2219.
66. Lin, X, Song, K, Lim, N, et-al. Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score – the CoLaus Study. Diabetologia. 2009; 52, 600–608.
67. Frayling, TM, Hattersley, AT. The role of genetic susceptibility in the association of low birth weight with type 2 diabetes. Br Med Bull. 2001; 60, 89–101.
68. Froguel, P, Zouali, H, Vionnet, N, et-al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med. 1993; 328, 697–702.
69. Hattersley, AT, Beards, F, Ballantyne, E, et-al. Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet. 1998; 19, 268–270.
70. Edghill, EL, Bingham, C, Slingerland, AS, et-al. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet Med. 2006; 23, 1301–1306.
71. Slingerland, AS, Hattersley, AT. Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. J Clin Endocrinol Metab. 2006; 91, 2782–2788.
72. Stoy, J, Edghill, EL, Flanagan, SE, et-al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007; 104, 15040–15044.
73. Babenko, AP, Polak, M, Cave, H, et-al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med. 2006; 355, 456–466.
74. Pearson, ER, Boj, SF, Steele, AM, et-al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med. 2007; 4, e118.
75. Aparicio, L, Carpenter, MW, Schwartz, R, Gruppuso, PA. Prenatal diagnosis of familial neonatal hyperinsulinemia. Acta Paediatr. 1993; 82, 683–686.
76. McCarthy, MI, Hattersley, AT. Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes. 2008; 57, 2889–2898.
77. Lindsay, RS, Dabelea, D, Roumain, J, et-al. Type 2 diabetes and low birth weight: the role of paternal inheritance in the association of low birth weight and diabetes. Diabetes. 2000; 49, 445–449.
78. Davey Smith, G, Sterne, JA, Tynelius, P, Rasmussen, F. Birth characteristics of offspring and parental diabetes: evidence for the fetal insulin hypothesis. J Epidemiol Community Health. 2004; 58, 126–128.
79. Hypponen, E, Smith, GD, Power, C. Parental diabetes and birth weight of offspring: intergenerational cohort study. BMJ. 2003; 326, 19–20.
80. Wannamethee, SG, Lawlor, DA, Whincup, PH, et-al. Birthweight of offspring and paternal insulin resistance and paternal diabetes in late adulthood: cross sectional survey. Diabetologia. 2004; 47, 12–18.
81. Knight, B, Shields, BM, Hill, A, et-al. Offspring birthweight is not associated with paternal insulin resistance. Diabetologia. 2006; 49, 2675–2678.
82. Yajnik, CS, Coyaji, KJ, Joglekar, CV, Kellingray, S, Fall, C. Paternal insulin resistance and fetal growth: problem for the ‘fetal insulin’ and the ‘fetal origins’ hypotheses. Diabetologia. 2001; 44, 1197–1198.
83. Shields, BM, Knight, B, Turner, M, et-al. Paternal insulin resistance and its association with umbilical cord insulin concentrations. Diabetologia. 2006; 49, 2668–2674.
84. Shields, BM, Knight, B, Hopper, H, et-al. Measurement of cord insulin and insulin-related peptides suggests that girls are more insulin resistant than boys at birth. Diabetes Care. 2007; 30, 2661–2666.
85. Weedon, MN, Frayling, TM, Shields, B, et-al. Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes. 2005; 54, 576–581.
86. Weedon, MN, Clark, VJ, Qian, Y, et-al. A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet. 2006; 79, 991–1001.
87. Groves, CJ, Zeggini, E, Minton, J, et-al. Association analysis of 6,736 UK subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes. 2006; 55, 2640–2644.
88. Damcott, CM, Pollin, TI, Reinhart, LJ, et-al. Polymorphisms in the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in the Amish: replication and evidence for a role in both insulin secretion and insulin resistance. Diabetes. 2006; 55, 2654–2659.
89. Scott, LJ, Bonnycastle, LL, Willer, CJ, et-al. Association of transcription factor 7-like 2 (TCF7L2) variants with type 2 diabetes in a Finnish sample. Diabetes. 2006; 55, 2649–2653.
90. Cauchi, S, Meyre, D, Dina, C, et-al. Transcription factor TCF7L2 genetic study in the French population: expression in human beta-cells and adipose tissue and strong association with type 2 diabetes. Diabetes. 2006; 55, 2903–2908.
91. Florez, JC, Jablonski, KA, Bayley, N, et-al. TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med. 2006; 355, 241–250.
92. Zhang, C, Qi, L, Hunter, DJ, et-al. Variant of transcription factor 7-like 2 (TCF7L2) gene and the risk of type 2 diabetes in large cohorts of US women and men. Diabetes. 2006; 55, 2645–2648.
93. van Vliet-Ostaptchouk, JV, Shiri-Sverdlov, R, Zhernakova, A, et-al. Association of variants of transcription factor 7-like 2 (TCF7L2) with susceptibility to type 2 diabetes in the Dutch Breda cohort. Diabetologia. 2007; 50, 59–62.
94. Chandak, GR, Janipalli, CS, Bhaskar, S, et-al. Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia. 2007; 50, 63–67.
95. Saxena, R, Gianniny, L, Burtt, NP, et-al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes. 2006; 55, 2890–2895.
96. Munoz, J, Lok, KH, Gower, BA, et-al. Polymorphism in the transcription factor 7-like 2 (TCF7L2) gene is associated with reduced insulin secretion in nondiabetic women. Diabetes. 2006; 55, 3630–3634.
97. Freathy, RM, Weedon, MN, Bennett, A, et-al. Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet. 2007; 80, 1150–1161.
98. Freathy, RM, Bennett, AJ, Ring, SM, et-al. Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes. 2009; 58, 1428–1433.
99. Zhao, J, Li, M, Bradfield, JP, et-al. Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes. 2009; 58, 2414–2418.
100. Pulizzi, N, Lysseako, V, Jonsson, A, et-al. Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes. Diabetologia. 2009; 52, 825–829.
101. Bernstein, IM, Mongeon, JA, Badger, GJ, et-al. Maternal smoking and its association with birth weight. Obstet Gynecol. 2005; 106, 986–991.
102. Bennett, AJ, Sovio, U, Ruokonen, A, et-al. No evidence that established type 2 diabetes susceptibility variants in the PPARG and KCNJ11 genes have pleiotropic effects on early growth. Diabetologia. 2008; 51, 82–85.
103. Byrne, MM, Sturis, J, Clement, K, et-al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest. 1994; 93, 1120–1130.
104. Pascoe, L, Tura, A, Patel, SK, et-al. Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes. 2007; 56, 3101–3104.
105. Grarup, N, Rose, CS, Andersson, EA, et-al. Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Diabetes. 2007; 56, 3105–3111.
106. Palmer, ND, Goodarzi, MO, Langefeld, CD, et-al. Quantitative trait analysis of type 2 diabetes susceptibility loci identified from whole genome association studies in the Insulin Resistance Atherosclerosis Family Study. Diabetes. 2008; 57, 1093–1100.
107. Stoffers, DA, Zinkin, NT, Stanojevic, V, Clarke, WL, Habener, JF. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. 1997; 15, 106–110.
108. Wright, NM, Metzger, DL, Borowitz, SM, Clarke, WL. Permanent neonatal diabetes mellitus and pancreatic exocrine insufficiency resulting from congenital pancreatic agenesis. Am J Dis Child. 1993; 147, 607–609.
109. Temple, IK, Gardner, RJ, Robinson, DO, et-al. Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23. Hum Mol Genet. 1996; 5, 1117–1121.
110. Temple, IK, James, RS, Crolla, JA, et-al. An imprinted gene(s) for diabetes? Nat Genet. 1995; 9, 110–112.
111. Flanagan, SE, Patch, AM, Mackay, DJ, et-al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes. 2007; 56, 1930–1937.
112. Gloyn, AL, Pearson, ER, Antcliff, JF, et-al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med. 2004; 350, 1838–1849.
113. Horikawa, Y, Iwasaki, N, Hara, M, et-al. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997; 17, 384–385.
114. Yamagata, K, Furuta, H, Oda, N, et-al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1). Nature. 1996; 384, 458–460.
115. Thomas, P, Ye, Y, Lightner, E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet. 1996; 5, 1809–1812.
116. Thomas, PM, Cote, GJ, Wohllk, N, et-al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science. 1995; 268, 426–429.
117. Elsas, LJ, Endo, F, Strumlauf, E, Elders, J, Priest, JH. Leprechaunism: an inherited defect in a high-affinity insulin receptor. Am J Hum Genet. 1985; 37, 73–88.
118. Donohue, WL, Uchida, I. Leprechaunism: a euphemism for a rare familial disorder. J Pediatr. 1954; 45, 505–519.