Dataset Information

Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

ABSTRACT: Dihydropyrimidine dehydrogenase (DPYD) is an enzyme that regulates the rate-limiting step in pyrimidine metabolism, especially catabolism of fluorouracil, a chemotherapeutic agent for cancer. In order to determine the genetic distribution of DPYD, we directly sequenced 288 subjects from five ethnic groups (96 Koreans, 48 Japanese, 48 Han Chinese, 48 African Americans, and 48 European Americans). As a result, 56 polymorphisms were observed, including 6 core polymorphisms and 18 novel polymorphisms. Allele frequencies were nearly the same across the Asian populations, Korean, Han Chinese and Japanese, whereas several SNPs showed different genetic distributions between Asians and other ethnic populations (African American and European American). Additional in silico analysis was performed to predict the function of novel SNPs. One nonsynonymous SNP (+199381A > G, Asn151Asp) was predicted to change its polarity of amino acid (Asn, neutral to Asp, negative). These findings would be valuable for further research, including pharmacogenetic and drug responses studies.

SUBMITTER: Shin JG

PROVIDER: S-EPMC3744698 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature

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Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

Shin Joong-Gon JG Cheong Hyun Sub HS Kim Jason Yongha JY Kim Lyoung Hyo LH Han Chang Soo CS Kim Ji On JO Kim Hae Deun HD Kim Young Hoon YH Chung Myeon Woo MW Han Soon Young SY Shin Hyoung Doo HD

Journal of Korean medical science 20130731 8

Dihydropyrimidine dehydrogenase (DPYD) is an enzyme that regulates the rate-limiting step in pyrimidine metabolism, especially catabolism of fluorouracil, a chemotherapeutic agent for cancer. In order to determine the genetic distribution of DPYD, we directly sequenced 288 subjects from five ethnic groups (96 Koreans, 48 Japanese, 48 Han Chinese, 48 African Americans, and 48 European Americans). As a result, 56 polymorphisms were observed, including 6 core polymorphisms and 18 novel polymorphism ...[more]

PMID: 23960437

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Project description:Data on the prevalence of chronic hepatitis B (HBV) and hepatitis C (HCV) virus infections, including the proportion of individuals aware of infection, are scarce among migrants living in Europe. We estimated the prevalence of past and present HBV and HCV infection, along with their determinants and peoples' awareness of infection status, among different groups of first-generation migrants and Dutch-origin residents of Amsterdam. Methods:Cross-sectional data of 998 Surinamese (mostly South-Asian and African-Surinamese), 500 Ghanaian, 497 Turkish, 498 Moroccan and 500 Dutch-origin participants from the observational population-based HELIUS study were used. Blood samples of participants were tested for HBV and HCV infection. Infection awareness was determined using records from participants' general practitioners. Results:Age- and gender-adjusted chronic HBV prevalence was highest among Ghanaian participants (5.4%), followed by Turkish (4.1%), African-Surinamese (1.9%), Moroccan (1.2%), South-Asian Surinamese (0.9%) and Dutch (0.4%) participants. A total of 58.1% of the cases were aware of their infection. In multinomial logistic regression analyses, Ghanaian (adjusted odds ratio [aOR] 42.23; 95% confidence interval [CI] 9.29-192.01), African-Surinamese (aOR 6.16; 95% CI 1.27-29.79), and Turkish (aOR 13.44; 95% CI 2.94-61.39) participants were at increased risk of chronic HBV infection compared with those of Dutch origin. Older participants were also at increased risk (aOR 1.02 per year; 95% CI 1.00-1.05), whereas women were at lower risk (aOR 0.49; 95% CI 0.29-0.83). HCV prevalence was 0.4% (95% CI 0.1-1.3%) among Dutch and African-Surinamese and 0% (95% CI 0.0-0.5%) for each of the other groups; all cases with follow-up data were aware of their infection. Conclusions:Ghanaian, Turkish and African-Surinamese first-generation migrants are at increased risk of chronic HBV infection and many are unaware of their infection, whereas HCV prevalence was low among all ethnic groups. Screening campaigns are urgently warranted and need to consider specific ethnic groups. Lay summary:First-generation migrants of Ghanaian, Turkish and African-Surinamese origin were at increased risk of chronic hepatitis B infection, with most infections occurring in older individuals and males. Since over 40% of people were unaware of their chronic hepatitis B infection, screening of these migrant groups is urgently needed. The proportion of first-generation migrants chronically infected with hepatitis C virus was very low among all groups studied.

Dataset Information

Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

Publications

Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

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