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:OBJECTIVE:To use newly available self-assigned ethnicity information to investigate variation in breast cancer screening uptake for women from the 16 specific ethnic groups within the broad Asian, Black and White groups that previous studies report. SETTING:National cancer screening programme services within London. PARTICIPANTS:655,516 female residents aged 50-69, invited for screening between March 2006 and December 2009. Ethnicity information was available for 475,478 (72.5%). White British women were the largest group (306,689, 46.8%), followed by Indian (34,687, 5.3%), White Other (30,053, 4.6%), Black Caribbean (25,607, 3.9%), White Irish (17,271, 2.6%), Black African (17,071, 2.6%) and Asian Other (10,579, 1.6%). OUTCOME MEASURES:Uptake for women in different ethnic groups aged 50-52 for a first call invitation to the programme, and for women aged 50-69 for a routine recall invitation after a previous mammography. Uptake is reported (1) for London overall, adjusted using logistic regression, for age at invitation, socioeconomic deprivation and geographical screening area, and (2) for individual areas, adjusted for age and deprivation. RESULTS:White British women attended their first call (67%) and routine recall (78%) invitations most often. Indian women were more likely to attend their first (61%) or routine recall (74%) than Bangladeshi women (43% and 61%, respectively), and Black Caribbean women were more likely than Black African women to attend first call (63% vs 49%, respectively) and routine recall (74% vs 64%, respectively). There was less variation between ethnic groups in some screening areas. CONCLUSIONS:Breast cancer screening uptake in London varies by specific ethnic group for first and subsequent invitations, with White British women being more likely to attend. The variation in the uptake for women from the same ethnic groups in different geographical areas suggests that collaboration about the successful engagement of services with different communities could improve uptake for all women.

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.

Similar Datasets

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