Association of the FAM46A Gene VNTRs and BAG6 rs3117582 SNP with Non Small Cell Lung Cancer (NSCLC) in Croatian and Norwegian Populations

abstract: ...We analyzed for associations between a variable number of tandem repeat (VNTR) polymorphism in the Family with sequence similarity 46, member A ( FAM46A ) gene and a single nucleotide polymorphism (rs3117582) in the BCL2-Associated Athanogene 6 ( BAG6 ) with non small cell lung cancer in Croatian and Norwegian subjects. A total of 503 (262 Croatian and 241Norwegian) non small cell lung cancer patients and 897 controls (568 Croatian and 329 Norwegian) were analyzed. We found that the frequency of allele b (three VNTR repeats) of FAM46A gene was significantly increased in the patients compared to the healthy controls in the Croatian and the combined Croatian and Norwegian subjects. Genotype frequencies of cd (four and five VNTR repeats) and cc (four VNTR repeats homozygote) of the FAM46A gene were significantly decreased in the patients compared to the healthy controls in the Croatian and Norwegian subjects, respectively. Logistic regression analyses revealed FAM46A genotype cc to be an independent predictive factor for non small cell lung cancer risk in the Norwegian subjects after adjustment for age, gender and smoking status. This is the first study to suggest an association between the FAM46A gene VNTR polymorphisms and non small cell lung cancer. We found also that BAG6 rs3117582 SNP was associated with non small cell lung cancer in the Norwegian subjects and the combined Croatian-Norwegian subjects corroborating the earlier finding that BAG6 rs3117582 SNP was associated with lung cancer in Europeans. Logistic regression analyses revealed that genotypes and alleles of BAG6 were independent predictive factor for non small cell lung cancer risk in the Norwegian and combined Croatian-Norwegian subjects, after adjustment for age and gender.

...PLoS One PLoS ONE plos plosone PLoS ONE 1932-6203 Public Library of Science San Francisco, CA USA 25884493 4401550 10.1371/journal.pone.0122651 PONE-D-14-52558 Research Article Association of the FAM46A Gene VNTRs and BAG6 rs3117582 SNP with Non Small Cell Lung Cancer (NSCLC) in Croatian and Norwegian Populations FAM46A VNTR, BAG6 rs3117582 SNP and NSCLC Risk Etokebe Godfrey Essien 1 * Zienolddiny Shanbeh 3 Kupanovac Zeljko 1 2 Enersen Morten 1 Balen Sanja 4 Flego Veljko 2 Bulat-Kardum Ljiljana

...) polymorphism in the Family with sequence similarity 46, member A ( FAM46A ) gene and a single nucleotide polymorphism (rs3117582) in the BCL2-Associated Athanogene 6 ( BAG6 ) with non small cell lung cancer in Croatian and Norwegian subjects. A total of 503 (262 Croatian and 241Norwegian) non small cell lung cancer patients and 897 controls (568 Croatian and 329 Norwegian) were analyzed. We found that the frequency of allele b (three VNTR repeats) of FAM46A gene was significantly increased in the patients compared to the healthy controls in the Croatian and the combined Croatian and Norwegian subjects. Genotype frequencies of cd (four and five VNTR repeats) and cc (four VNTR repeats homozygote) of the FAM46A gene were significantly decreased in the patients compared to the healthy controls in the Croatian and Norwegian subjects, respectively. Logistic regression analyses revealed FAM46A genotype cc to be an independent predictive factor for non small cell lung cancer risk in the Norwegian subjects after adjustment for age, gender and smoking status. This is the first study to suggest an association between the FAM46A gene VNTR polymorphisms and non small cell lung cancer. We found also that BAG6 rs3117582 SNP was associated with non small cell lung cancer in the Norwegian subjects and the combined Croatian-Norwegian subjects corroborating the earlier finding that BAG6 rs3117582 SNP was associated with lung cancer in Europeans. Logistic regression analyses revealed that genotypes and alleles of BAG6 were

... ( FAM46A ) gene [ 24 ] is located at chromosome 6.14.1. It harbors a VNTR within its coding sequence in exon 2. This VNTR may vary from two to seven repeats per chromosome [ 25 ; 26 ]. The FAM46A polypeptide chain also contains the Domain of unknown function 1693 (DUF1693) [ 27 ] and as such no biological role has been assigned to the FAM46A gene as of date [ 28 ; 29 ]. FAM46A protein interacts with the BCL2 -Associated Athanogene 6 ( BAG6 ) protein [ 28 ] which has been reported to modify risk of lung cancer [ 30 ]. The BAG6 gene is located on chromosome 6p21.3 and regulated apoptosis and HSP70 [ 31 ]. FAM46A protein also interacts with the zinc finger, FYVE domain-containing 9 ( ZFYVE9 ) protein [ 28 ] which is involved in TGF- signaling. We previously reported that the mouse homologue of the Fam46a gene is expressed in developing tooth buds. Due to its nuclear localization and interaction with the human transcription factor, ZFYVE9 protein, we suggested that the FAM46A protein might be involved in cellular proliferation [ 32 ]. In addition, we have recently reported that the FAM46A gene VNTR is associated with increased risk of tuberculosis and osteoarthritis [ 33 ; 34 ]. Data suggest that patients with tuberculosis are associated with increased lung cancer [ 35 ]. Based on these facts, we hypothesized that the FAM46A gene may be involved in lung cancer and that this involvement may be through variations in the length of the FAM46A VNTR. In addition, we analyzed for the association of a

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Gene: FAM46A - family with sequence similarity 46, member A - (NCBI)

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