Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations. A variant in intron 22 that is nearly independent of the intron 19 variant showed suggestive evidence of association with multiple sclerosis (MS). Here, we genotyped the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, in 1037 T1D cases, 1498 MS cases and 1706 matched controls, all from the founder, autoimmunity-prone Sardinian population. In these Sardinian samples, allele A of rs725613 is positively associated not only with T1D (odds ratio = 1.15, P one-tail = 5.1 × 10-3) but also, and with a comparable effect size, with MS (odds ratio = 1.21, P one-tail 6.7 × 10-5). Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.

Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia

PUGLIATTI, Maura;
2009

Abstract

Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations. A variant in intron 22 that is nearly independent of the intron 19 variant showed suggestive evidence of association with multiple sclerosis (MS). Here, we genotyped the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, in 1037 T1D cases, 1498 MS cases and 1706 matched controls, all from the founder, autoimmunity-prone Sardinian population. In these Sardinian samples, allele A of rs725613 is positively associated not only with T1D (odds ratio = 1.15, P one-tail = 5.1 × 10-3) but also, and with a comparable effect size, with MS (odds ratio = 1.21, P one-tail 6.7 × 10-5). Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.
2009
Zoledziewska, M; Costa, G; Pitzalis, M; Cocco, E; Melis, C; Moi, L; Zavattari, P; Murru, R; Lampis, R; Morelli, L; Poddie, F; Frongia, P; Pusceddu, P; Bajorek, M; Marras, A; Satta, Am; Chessa, A; Pugliatti, Maura; Sotgiu, S; Whalen, Mb; Rosati, G; Cucca, F; Marrosu, Mg
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2328005
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 61
  • ???jsp.display-item.citation.isi??? 58
social impact