The first large population based twin study of coeliac disease

被引:272
作者
Greco, L
Romino, R
Coto, I
Di Cosmo, N
Percopo, S
Maglio, M
Paparo, F
Gasperi, V
Limongelli, MG
Cotichini, R
D'Agate, C
Tinto, N
Sacchetti, L
Tosi, R
Stazi, MA
机构
[1] Univ Naples Federico II, Dipartimento Pediat, I-80131 Naples, Italy
[2] Univ Naples Federico II, Dept Biochem & Med Biotechnol, I-80131 Naples, Italy
[3] ELFID, Naples, Italy
[4] Ist Super Sanita, I-00161 Rome, Italy
[5] CNR, Cellular Biol Inst, Rome, Italy
关键词
D O I
10.1136/gut.50.5.624
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease by estimating the concordance rate for the disease among Win pairs in a large population based study. Methods: The Italian Twin Registry was matched with the membership lists of a patient support group. Forty seven twin pairs were recruited and screened for antiendomysial (EMA) and antihuman-tissue transglutaminase (anti-tTG) antibodies; zygosity was verified by DNA fingerprinting and twins were typed for HLA class 11 DRB 1 and DQB 1 molecules. Results: Concordance rates for coeliac disease differ significantly between monozygotic (MZ) (0.86 probandwise and 0.75 pairwise) and dizygotic (DZ) (0.20 probandwise and 0.11 pairwise) twins. This is the highest concordance so for reported for a multifactorial disease. A logistic regression model, adjusted for age, sex, number of shared HLA hoplotypes, and zygosity, showed that genotypes, DQA1 *0501 /DQB1*0201 and DQA1 *0301 /DQB 1 *0302 (encoding for heterodimers DQ2 and DQ8, respectively) conferred to the non-index twin a risk of contracting the disease of 3.3 and 1.4, respectively. The risk of being concordant for coeliac disease estimated for the non-index twin of MZ pairs was 17 (95% confidence interval 2.1 -134), independent of the DQ at risk genotype. Conclusion: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region.
引用
收藏
页码:624 / 628
页数:5
相关论文
共 42 条
[1]  
AHO K, 1986, J RHEUMATOL, V13, P899
[2]   DERMATITIS-HERPETIFORMIS IN MONOZYGOTIC TWINS - CONCORDANCE FOR DERMATITIS-HERPETIFORMIS AND GLUTEN-SENSITIVE ENTEROPATHY [J].
ANSTEY, A ;
WILKINSON, JD ;
WALSHE, MM .
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 1991, 16 (01) :51-52
[3]  
AURICCHIO S, 1990, GASTROENTEROLOGY INT, V3, P140
[4]  
Bevan S, 1999, J MED GENET, V36, P687
[5]   CELIAC-DISEASE IN THE YEAR 2000 - EXPLORING THE ICEBERG [J].
CATASSI, C ;
RATSCH, IM ;
FABIANI, E ;
ROSSINI, M ;
BORDICCHIA, F ;
CANDELA, F ;
COPPA, GV ;
GIORGI, PL .
LANCET, 1994, 343 (8891) :200-203
[6]   HLA-DR53 molecules are associated with susceptibility to celiac disease and selectively bind gliadin-derived peptides [J].
Clot, F ;
Gianfrani, C ;
Babron, MC ;
Bouguerra, F ;
Southwood, S ;
Kagnoff, MF ;
Troncone, R ;
Percopo, S ;
Eliaou, JF ;
Clerget-Darpoux, F ;
Sette, A ;
Greco, L .
IMMUNOGENETICS, 1999, 49 (09) :800-807
[7]   FAMILY STUDY OF CELIAC-DISEASE [J].
DAVID, TJ ;
AJDUKIEWICZ, AB .
JOURNAL OF MEDICAL GENETICS, 1975, 12 (01) :79-82
[8]   LATE ONSET CELIAC-DISEASE IN THE MONOZYGOTIC TWIN OF A CELIAC CHILD [J].
DESOUSA, JS ;
DEALMEIDA, JMR ;
MONTEIRO, MV ;
RAMALHO, PM .
ACTA PAEDIATRICA SCANDINAVICA, 1987, 76 (01) :172-174
[9]   Autoantibodies to tissue transglutaminase as predictors of celiac disease [J].
Dieterich, W ;
Laag, E ;
Schöpper, H ;
Volta, U ;
Ferguson, A ;
Gillett, H ;
Riecken, EO ;
Schuppan, D .
GASTROENTEROLOGY, 1998, 115 (06) :1317-1321
[10]   THE ROLE OF GENETIC-FACTORS IN MULTIPLE-SCLEROSIS SUSCEPTIBILITY [J].
EBERS, GC ;
SADOVNICK, AD .
JOURNAL OF NEUROIMMUNOLOGY, 1994, 54 (1-2) :1-17