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introductionTargeted capture of genomic regions of interest for massively parallel sequencing allows simultaneous screening of mutations in hundreds of loci in genetically heterogeneous human diseases. It has become a widely used method in genetic testing because it leads to increased cost-effectiveness, shorter turn-around-time, higher accuracy and accessibility. Nasopharyngeal Carcinoma (NPC) is uncommon in many parts of the world with the age-standardize rates of about 2.2 per 100,0003 but is one of the most prevalent cancers in Southeast Asia especially among the Bidayuhs and Kadazans, with its aetiology understudied. Familial clustering shows that individuals with first degree family history of NPC have elevated risk of NPC with odd ratios ranged from 2 to 20 as compared to those with no family history of NPC. As genetic factors such as tumor suppressor genes that confers susceptibility to NPC remain unclear and understudied in different ethnic groups in Malaysia, we conduct Whole Exome Sequencing and Targeted Sequencing in 24 NPC cases with family history of NPC to evaluate the feasibility of targeted sequencing as well as to identify genetic factors that may lead to development of NPC. Methodology[Refer to Poster]. Results[Refer to Poster]. Discussion and ConclusionGenetic susceptibility to cancer is usually caused by dominantly inherited heterozygous mutations of tumour suppressor genes. However, tumour suppressor genes which confer such increased risk of NPC are understudied among various high risk groups in Malaysia. Comprehensive analysis were performed to identify potential susceptibility genes and in-depth characterization and validation of the target genes should be done to evaluate the association of such genes in pathogenesis of NPC. In our study, the targeted sequencing data demonstrates very high correlation with the WES data and our results show that both platforms are useful for the identification of potential tumour suppressor genes in NPC. It is found that in NPC, pathways related to innate immune system and DNA repair are affected. This will further enhance our understanding in the molecular basis of the disease and shed light for future prevention, diagnosis, gene therapy and/or management of NPC.

Background The number of available reports regarding the influence of ethnicity on clinical features of allergic rhinitis (AR), especially disease severity in tropical climates, is limited. We aimed to compare clinical parameters and disease severity in AR patients of different ethnicities. Methods Malay, Chinese, and Indian AR patients (n = 138) with confirmed sensitivity to Dermatophagoides pteronyssinus, Dematophagoides farinae, and Blomia tropicalis were tested for mite-specific immunoglobulin E (sIgE) levels. A detailed questionnaire was used to collect data on nasal symptom score (NSS), ocular symptom score (OSS), sum of symptoms score (SSS), quality of life score (QLS), symptomatic control score (SCS), and total sum of scores (TSS) and correlate the derived data with patients’ demography, mite-polysensitivity, and sIgE levels. Results AR-related symptoms were most severe in Malays and least in Chinese (p < 0.01). Age (r = 0.516 to 0.673, p < 0.05) and duration of AR (r = 0.635 to 0.726, p < 0.01) correlated positively with severity domains (NSS, SSS, QLS, and TSS) in Chinese. Duration of concurrent allergies was highest in Malays (p < 0.05). Polysensitivity predicted increased sIgE levels in Malays (r = 0.464 to 0.551, p < 0.01) and Indians (r = 0.541 to 0.645, p < 0.05) but affected NSS, SSS, and TSS only in Indians (r = 0.216 to 0.376, p < 0.05). sIgE levels were lowest among Chinese but correlated strongly with NSS, OSS, SSS, and TSS (r = 0408 to 0.898, p < 0.05). Conclusion Clinical parameters in AR may be influenced by race. Symptoms were most severe among Malays but did not correlate with other variables examined. Although Indian ethnicity did not impact disease severity, duration of concurrent allergies and mite-polysensitivity was associated with more severe disease. Age, duration of disease, and sIgE levels may be useful indicators of disease severity in Chinese.

The number of available reports regarding the influence of ethnicity on clinical features of allergic rhinitis (AR), especially disease severity in tropical climates, is limited. We aimed to compare clinical parameters and disease severity in AR patients of different ethnicities.Malay, Chinese, and Indian AR patients (n = 138) with confirmed sensitivity to Dermatophagoides pteronyssinus, Dematophagoides farinae, and Blomia tropicalis were tested for mite-specific immunoglobulin E (sIgE) levels. A detailed questionnaire was used to collect data on nasal symptom score (NSS), ocular symptom score (OSS), sum of symptoms score (SSS), quality of life score (QLS), symptomatic control score (SCS), and total sum of scores (TSS) and correlate the derived data with patients' demography, mite-polysensitivity, and sIgE levels.AR-related symptoms were most severe in Malays and least in Chinese (p0.01). Age (r = 0.516 to 0.673, p0.05) and duration of AR (r = 0.635 to 0.726, p0.01) correlated positively with severity domains (NSS, SSS, QLS, and TSS) in Chinese. Duration of concurrent allergies was highest in Malays (p0.05). Polysensitivity predicted increased sIgE levels in Malays (r = 0.464 to 0.551, p0.01) and Indians (r = 0.541 to 0.645, p0.05) but affected NSS, SSS, and TSS only in Indians (r = 0.216 to 0.376, p0.05). sIgE levels were lowest among Chinese but correlated strongly with NSS, OSS, SSS, and TSS (r = 0408 to 0.898, p0.05).Clinical parameters in AR may be influenced by race. Symptoms were most severe among Malays but did not correlate with other variables examined. Although Indian ethnicity did not impact disease severity, duration of concurrent allergies and mite-polysensitivity was associated with more severe disease. Age, duration of disease, and sIgE levels may be useful indicators of disease severity in Chinese.