Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Killer cell immunoglobulin-like receptors (KIR) form a group of regulatory molecules that specifically recognize HLA class I molecules, modulating cytolytic activity of natural killer cells. The number of KIR genes can vary between individuals, significant allelic variations have been described, and KIR genes are organized in a complex and heterogeneous family. In the present study we have performed KIR genotype analysis in the Basque general population. Additionally, we have tested the possible association between KIR gene content (in combination with its HLA ligand) and type 1 diabetes mellitus (T1DM). KIR genotyping was performed using a commercial sequence-specific primer amplification genotyping kit and amino acid position 80 of HLA-C was genotyped by specific amplification and direct sequencing. Haplotypes and genotypes were deduced based on previous studies, and frequencies were compared between disease and control groups. All KIR genes tested were present in Basques and several of these genes (KIR2DS5, KIR3DS1, and KIR2DL2) displayed significant differences from corresponding genes in other Caucasoid populations. In general, Basques present an increase in activating KIR gene frequency and, consequently, the proportion of B haplotypes is higher. Three novel haplotypes were identified in the Basque population. Overall, our results confirm the particular genetic characteristics of the Basque population. No association between KIR gene content and susceptibility to T1DM was observed.
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PMID:Killer cell immunoglobulin-like receptor (KIR) genes in the Basque population: association study of KIR gene contents with type 1 diabetes mellitus. 1669 33

We investigated killer cell immunoglobulin-like receptor (KIR) genotypes in 92 patients with young-onset type 1 diabetes mellitus (YT1DM: < or =35 years old), 112 patients with adult-onset type 1 diabetes mellitus (AT1DM: >35 years old) and 240 control subjects. There were no differences in the frequency of KIR genotypes between controls and all the patients with T1DM or patients grouped according to age at onset of the disorder. However, when the subjects were classified into three groups according to combinations of the presence or absence of KIR3DS1/KIR3DL1 and its ligand human leukocyte antigen (HLA)-Bw4, or KIR2DL1 and its ligand HLA-C group 2, the genotype distribution was significantly different between the patients with AT1DM and controls [chi(2)= 5.993, 2 degrees of freedom (d.f.), P= 0.0500]. These data suggest that KIR polymorphisms may be associated with the age at onset of T1DM.
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PMID:Killer cell immunoglobulin-like receptor genotypes in Japanese patients with type 1 diabetes. 1799 Sep 89