PMID- 24818561 OWN - NLM STAT- MEDLINE DCOM- 20141006 LR - 20211021 IS - 1432-1211 (Electronic) IS - 0093-7711 (Linking) VI - 66 IP - 7-8 DP - 2014 Aug TI - Association of killer cell immunoglobulin-like receptor gene 2DL1 and its HLA-C2 ligand with family history of cancer in oral squamous cell carcinoma. PG - 439-48 LID - 10.1007/s00251-014-0778-1 [doi] AB - Killer cell immunoglobulin-like receptors (KIR) are involved in regulating natural killer cell activation through recognition of their human leukocyte antigen (HLA) class I ligands. We conducted a case-control study with 169 oral squamous cell carcinoma (OSCC) patients and 177 healthy participants to study the genomic diversity of KIR and HLA loci and KIR gene expression in context of family history of cancer (FHC) in OSCC. Polymerase chain reaction (PCR) sequence-specific priming approach was used to type 16 KIR genes in individuals. SSP-real-time PCR was used for HLA class I ligand genotyping and real-time quantitative reverse transcriptase PCR was used to determine the expression of KIR gene. KIR2DL1(+)-HLA-C2(+) genotype was higher and positively associated with OSCC. Notably, all KIR2DL1(+)-HLA-C2(+) genotypes occurred exclusively in patients with FHC, showing a strong positive association of KIR2DL1(+)-HLA-C2(+) genotype with FHC. In addition, all younger age group patients (<55 years) with FHC were positive for KIR2DL1(+)-HLA-C2(+) genotype suggesting association of the genotype with early onset of disease. RNA transcript abundance of inhibitory KIR2DL1 in FHC patients, particularly of lower age groups (<45 and 45-54 years), supports the contention. Further, KIR2DL3(+)-HLA-C(+) genotype was negatively associated with OSCC. Our findings suggest KIR2DL1(+)-HLA-C2(+) genotype as heritable risk factor in OSCC predisposing to OSCC at younger age. Interestingly, KIR2DL3(+)-HLA-C(+) genotype was seen to be protective in OSCC. This study may be useful towards cancer surveillance and early detection of oral cancer in patients with FHC. FAU - Dutta, Anupam AU - Dutta A AD - Department of Molecular Biology and Biotechnology, Tezpur University, Napaam, Tezpur, 784028, Assam, India. FAU - Saikia, Nabajyoti AU - Saikia N FAU - Phookan, Jyotirmoy AU - Phookan J FAU - Baruah, Munindra Narayan AU - Baruah MN FAU - Baruah, Shashi AU - Baruah S LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140513 PL - United States TA - Immunogenetics JT - Immunogenetics JID - 0420404 RN - 0 (HLA-C Antigens) RN - 0 (KIR2DL1 protein, human) RN - 0 (KIR2DL3 protein, human) RN - 0 (Ligands) RN - 0 (RNA, Messenger) RN - 0 (RNA, Neoplasm) RN - 0 (Receptors, KIR2DL1) RN - 0 (Receptors, KIR2DL3) SB - IM MH - Adult MH - Aged MH - Carcinoma, Squamous Cell/*genetics/*immunology/metabolism MH - Case-Control Studies MH - Female MH - Gene Expression MH - Genetic Predisposition to Disease MH - HLA-C Antigens/genetics/*metabolism MH - Humans MH - Ligands MH - Male MH - Middle Aged MH - Mouth Neoplasms/*genetics/*immunology/metabolism MH - RNA, Messenger/genetics/metabolism MH - RNA, Neoplasm/genetics/metabolism MH - Receptors, KIR2DL1/*genetics MH - Receptors, KIR2DL3/genetics EDAT- 2014/05/14 06:00 MHDA- 2014/10/07 06:00 CRDT- 2014/05/14 06:00 PHST- 2014/01/21 00:00 [received] PHST- 2014/04/29 00:00 [accepted] PHST- 2014/05/14 06:00 [entrez] PHST- 2014/05/14 06:00 [pubmed] PHST- 2014/10/07 06:00 [medline] AID - 10.1007/s00251-014-0778-1 [doi] PST - ppublish SO - Immunogenetics. 2014 Aug;66(7-8):439-48. doi: 10.1007/s00251-014-0778-1. Epub 2014 May 13.