1型糖尿病患者及多民族背景的一级亲属中的胰腺自身抗体、HLA DR和PTPN22基因多态性
Pancreatic autoantibodies, HLA DR and PTPN22 polymorphisms in first degree relatives of patients with type 1 diabetes and multiethnic background.
作者信息
Barone B, Dantas J R, Almeida M H, Anna-Gomes B S, Bencke-Gongalves M D R, Albernaz M S, Rodrigues M R, Zajdenverg L, Kupfer R, Milech A, Rodacki M, Oliveira J E P
机构信息
Nutrology Section, Universidade Federal do Rio de Janeiro, Rio de Janeiro/RJ, Brazil.
出版信息
Exp Clin Endocrinol Diabetes. 2011 Nov;119(10):618-20. doi: 10.1055/s-0031-1280799. Epub 2011 Nov 8.
AIM
To evaluate the prevalence of pancreatic auto-antibodies (PAb) as well as its relationship with HLA DR B1 and PTPN22 polymorphisms in first degree relatives (FDR) of Brazilian patients with Type 1 diabetes (T1D) and multiethnic background.
METHODS
FDR of patients with T1D were interviewed and blood was sampled for PAb measurement, HLA DRB1 and PTPN22 genotyping. Genotyping was also performed in index cases.
RESULTS
In FDR (n=78), 16.7% presented at least one PAb. These individuals had a higher prevalence of HLA DRB1* 03 than others (p=0.03), without differences in PTPN22 genotyping. While the genetic profile was similar in FDR with PAb and their index cases, those without PAb had a lower frequency of HLA DR B1 * 03 than their correspondent patients (p=0.009).
CONCLUSION
In this multiethnic population, a significant proportion of FDR of T1D patients had PAb, which was associated with HLA DR B1 * 03 but not with the PTPN22 polymorphism.
目的
评估巴西1型糖尿病（T1D）多民族背景患者的一级亲属（FDR）中胰腺自身抗体（PAb）的患病率及其与HLA DR B1和PTPN22基因多态性的关系。
方法
对T1D患者的FDR进行访谈，并采集血液进行PAb检测、HLA DRB1和PTPN22基因分型。对索引病例也进行基因分型。
结果
在FDR（n = 78）中，16.7%至少出现一种PAb。这些个体中HLA DRB103的患病率高于其他人（p = 0.03），PTPN22基因分型无差异。虽然有PAb的FDR及其索引病例的基因谱相似，但没有PAb的个体中HLA DR B103的频率低于相应患者（p = 0.009）。
结论
在这个多民族人群中，相当比例的T1D患者FDR有PAb，这与HLA DR B1*03相关，但与PTPN22基因多态性无关。
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