Providing information for patients and professionals on research and clinical care in genetic types of diabetes.

Publications list - Exeter Family Study of Childhood Health


Fetal thyroid hormone level at birth is associated with fetal growth.

Shields BM, Knight BA, Hill A, Hattersley AT, Vaidya B.

J Clin Endocrinol Metab. 2011 Jun;96(6):E934-8. Epub 2011 Mar 16.

PMID: 21411545 [PubMed - in process]



Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance.

De Silva NM, Freathy RM, Palmer TM, Donnelly LA, Luan J, Gaunt T, Langenberg C, Weedon MN, Shields B, Knight BA, Ward KJ, Sandhu MS, Harbord RM, McCarthy MI, Smith GD, Ebrahim S, Hattersley AT, Wareham N, Lawlor DA, Morris AD, Palmer CN, Frayling TM.

Diabetes. 2011 Mar;60(3):1008-18. Epub 2011 Jan 31.

PMID: 21282362 [PubMed - indexed for MEDLINE]



Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, Lange LA, Bradfield JP, Kerkhof M, Marsh JA, Mägi R, Chen CM, Lyon HN, Kirin M, Adair LS, Aulchenko YS, Bennett AJ, Borja JB, Bouatia-Naji N, Charoen P, Coin LJ, Cousminer DL, de Geus EJ, Deloukas P, Elliott P, Evans DM, Froguel P; Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Glaser B, Groves CJ, Hartikainen AL, Hassanali N, Hirschhorn JN, Hofman A, Holly JM, Hyppönen E, Kanoni S, Knight BA, Laitinen J, Lindgren CM; Meta-Analyses of Glucose and Insulin-related traits Consortium, McArdle WL, O'Reilly PF, Pennell CE, Postma DS, Pouta A, Ramasamy A, Rayner NW, Ring SM, Rivadeneira F, Shields BM, Strachan DP, Surakka I, Taanila A, Tiesler C, Uitterlinden AG, van Duijn CM; Wellcome Trust Case Control Consortium, Wijga AH, Willemsen G, Zhang H, Zhao J, Wilson JF, Steegers EA, Hattersley AT, Eriksson JG, Peltonen L, Mohlke KL, Grant SF, Hakonarson H, Koppelman GH, Dedoussis GV, Heinrich J, Gillman MW, Palmer LJ, Frayling TM, Boomsma DI, Davey Smith G, Power C, Jaddoe VW, Jarvelin MR; Early Growth Genetics (EGG) Consortium, McCarthy MI.

Nat Genet. 2010 May;42(5):430-5. Epub 2010 Apr 6.

PMID: 20372150 [PubMed - indexed for MEDLINE]



Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.

Perry JR, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, Paolisso G, Walker M, Palmer CN, Payne F, Young E, Herder C, Narisu N, Morken MA, Bonnycastle LL, Owen KR, Shields B, Knight B, Bennett A, Groves CJ, Ruokonen A, Jarvelin MR, Pearson E, Pascoe L, Ferrannini E, Bornstein SR, Stringham HM, Scott LJ, Kuusisto J, Nilsson P, Neptin M, Gjesing AP, Pisinger C, Lauritzen T, Sandbaek A, Sampson M; MAGIC, Zeggini E, Lindgren CM, Steinthorsdottir V, Thorsteinsdottir U, Hansen T, Schwarz P, Illig T, Laakso M, Stefansson K, Morris AD, Groop L, Pedersen O, Boehnke M, Barroso I, Wareham NJ, Hattersley AT, McCarthy MI, Frayling TM.

Hum Mol Genet. 2010 Feb 1;19(3):535-44. Epub 2009 Nov 18.

PMID: 19933169 [PubMed - indexed for MEDLINE]



Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy.

Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B.

J Clin Endocrinol Metab. 2009 Nov;94(11):4608-12. Epub 2009 Oct 9.

PMID: 19820008 [PubMed - indexed for MEDLINE]



A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy.

Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT.

Hum Mol Genet. 2009 Aug 1;18(15):2922-7. Epub 2009 May 9.

PMID: 19429911 [PubMed - indexed for MEDLINE]



Cigarette smoking during pregnancy is associated with alterations in maternal and fetal thyroid function.

Shields B, Hill A, Bilous M, Knight B, Hattersley AT, Bilous RW, Vaidya B.

J Clin Endocrinol Metab. 2009 Feb;94(2):570-4. Epub 2008 Nov 18.

PMID: 19017761 [PubMed - indexed for MEDLINE]


24: Freathy RM, Mitchell SM, Knight B, Shields B, Weedon MN, Hattersley AT, Frayling TM.

A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population.
J Negat Results Biomed. 2006 Nov 24;5:18.
PMID: 17125497 

23: .Weedon MN, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

No Evidence of Association of ENPP1 Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians.
Diabetes. 2006 Nov;55(11):3175-9.
PMID: 17065358 

22: Knight B, Shields BM, Hill A, Powell RJ, Round A, Hamilton W, Hattersley AT.

Offspring birthweight is not associated with paternal insulin resistance.
Diabetologia. 2006 Sep 5; [Epub ahead of print]
PMID: 16953379

21:  Knight B, Shields B, Powell R, Hattersley A

Paternal details missing at booking: an identifiable risk factor for lower birthweight
Evidence Based Midwifery. 2006 4(2):41-5 
Not on PubMed

20: 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 Aug 17;6(1):24 [Epub ahead of print]
PMID: 16916439 

19: Freathy RM, Weedon MN, Melzer D, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

The functional KL-VS variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians.
BMC Med Genet. 2006 Jun 5;7(1):51 [Epub ahead of print]
PMID: 16753056

18: Shields BM, Knight B, Turner M, Wilkins-Wall B, Shakespeare L, Powell RJ, Hannemann M, Clark PM, Yajnik CS, Hattersley AT.

Paternal insulin resistance and its association with umbilical cord insulin concentrations.
Diabetologia. 2006 May 16; [Epub ahead of print]
PMID: 16703330

17: Freathy RM, Weedon MN, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population.
JOP. 2006 May 9;7(3):295-302.
PMID: 16685110

16: Patel S, Minton JA, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG.

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.
Diabetologia. 2006 Apr 7; [Epub ahead of print]
PMID: 16601972

15: Knight B, Shields BM, Hattersley AT.

The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology.
Paediatr Perinat Epidemiol. 2006 Mar;20(2):172-9.
PMID: 16466435

14:  Knight B, Shields B, Turner M, Hattersley A, Powell R

Improving the quality of data collection in midwifery research: the role of the reliability study
Evidence Based Midwifery. 2005 3(1):16-20 
Not on PubMed

13:  Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM.

A Large-Scale Association Analysis of Common Variation of the HNF1{alpha} Gene With Type 2 Diabetes in the U.K. Caucasian Population.
Diabetes. 2005 Aug;54(8):2487-91.
PMID: 16046319 

12: Shields BM, Knight B, Shakespeare L, Babrah J, Powell RJ, Clark PM, Hattersley AT.

Determinants of insulin concentrations in healthy 1-week-old babies in the community: Applications of a bloodspot assay.
Early Hum Dev. 2005 Oct 12; [Epub ahead of print]
PMID: 16226857 

11:  Knight B, Shields BM, Turner M, Powell RJ, Yajnik CS, Hattersley AT.

Evidence of genetic regulation of fetal longitudinal growth.
Early Hum Dev. 2005 Aug 5;
PMID: 16085375

10:  Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Metcalf BS, Voss L, Wilkin TJ, McCarthy A, Ben-Shlomo Y, Davey Smith G, Ring S, Jones R, Golding J, Byberg L, Mann V, Axelsson T, Syvanen AC, Leon D, Hattersley AT.

Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene.
Diabetes. 2005 Feb;54(2):576-81.
PMID: 15677518 

9:  Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM.

Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population.
Diabetes. 2004 Nov;53(11):3002-6.
PMID: 15504983 

8:  Shields B, Knight B

Improving the quality of maternity data: lessons from the Exeter Family Study of Childhood Health
RCM Midwives. 2004 Apr; 7(4):156-159. 
Not on PubMed

7:  Weedon MN, Hattersley AT, Frayling TM.

Tall stories: the fundamental difficulties of genetic association studies.
Clin Endocrinol (Oxf). 2004 Jan; 60(1): 145-6. No abstract available.
PMID: 14678302 

6:  Mitchell SM, Hattersley AT, Knight B, Turner T, Metcalf BS, Voss LD, Davies D, McCarthy A, Wilkin TJ, Smith GD, Ben-Shlomo Y, Frayling TM.

Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations.
J Clin Endocrinol Metab. 2004 Jan; 89(1): 310-7.
PMID: 14715866 

5:  Ward KJ, Shields B, Knight B, Salzmann MB, Hattersley AT, Frayling TM.

Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy.
Lipids Health Dis. 2003 Nov 5; 2(1): 9.
PMID: 14613578 

4:  Weedon MN, Schwarz PE, Horikawa Y, Iwasaki N, Illig T, Holle R, Rathmann W, Selisko T, Schulze J, Owen KR, Evans J, Del Bosque-Plata L, Hitman G, Walker M, Levy JC, Sampson M, Bell GI, McCarthy MI, Hattersley AT, Frayling TM.

Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.
Am J Hum Genet. 2003 Nov;73(6):1208-12. No abstract available.
PMID: 14574648 

3:  Weedon MN, Turner M, Knight B, Clark P, Hattersley AT, Frayling TM.

Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population.
Clin Endocrinol (Oxf). 2003 Aug;59(2):175-9.
PMID: 12864794

2:  Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM.

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 Feb;52(2):568-72.
PMID: 12540637

1:   Frayling TM, Hattersley AT, McCarthy A, Holly J, Mitchell SM, Gloyn AL, Owen K, Davies D, Smith GD, Ben-Shlomo Y.

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations.
Diabetes. 2002 Jul;51(7):2313-6.
PMID: 12086966