Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Collect DNA from well-characterized healthy volunteers.
DNA and plasma will be used to identify and determine allele frequencies of genetic variants in membrane transporters and other genes relevant to human disease or drug response, including drug metabolizing enzymes, collagen, race/ethnicity, neurovascular disease, asthma/allergy/lung disease, and cardiovascular disease. This phase of the study will serve as the hypothesis-generating phase for future studies by identifying genetic variants and determining allele frequencies among an ethnically diverse cohort of healthy volunteers. Future investigations (separate IRB applications) will attempt to correlate genotypes to phenotypes among this cohort of volunteers. The allele identification and frequency data from this group of healthy volunteers will also be used to design association studies in relevant disease populations.
Determine if identified sequence variants are associated with gain or loss of in vitro biologic function using lymphocytes obtained from patients.
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| African American | Must self identify as African American with parents and grandparents of the same ethnicity. Must be healthy taking no over the counter medications or prescription medications. | ||
| Cuacasian | Must self identify as Caucasian with parents and grandparents of the same ethnicity. Must be healthy taking no over the counter medications or prescription medications. | ||
| Hispanic | Must self identify as Hispanic with parents and grandparents of the same ethnicity. Must be healthy taking no over the counter medications or prescription medications. | ||
| Asian | Must self identify as Asian with parents and grandparents of the same ethnicity. Must be healthy taking no over the counter medications or prescription medications. |
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Healthy Control | Amass a cohort of healthy controls to be used for future genotype to phenotype studies. | On-going |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Healthy participants that are willing to be called back for subsequent genotype to phenotype studies.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Kathleen M Giacomini, PhD | University of California, San Francisco | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| San Francisco General Hopsital CTSI CRC | San Francisco | California | 94143 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 19745787 | Background | Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM. Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1. Pharmacogenet Genomics. 2009 Oct;19(10):770-80. doi: 10.1097/FPC.0b013e328330eeca. | |
| 16354753 |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
40 mL of blood for DNA extraction
| Urban TJ, Sebro R, Hurowitz EH, Leabman MK, Badagnani I, Lagpacan LL, Risch N, Giacomini KM. Functional genomics of membrane transporters in human populations. Genome Res. 2006 Feb;16(2):223-30. doi: 10.1101/gr.4356206. Epub 2005 Dec 14. |
| 12719534 | Background | Shu Y, Leabman MK, Feng B, Mangravite LM, Huang CC, Stryke D, Kawamoto M, Johns SJ, DeYoung J, Carlson E, Ferrin TE, Herskowitz I, Giacomini KM; Pharmacogenetics Of Membrane Transporters Investigators. Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. Proc Natl Acad Sci U S A. 2003 May 13;100(10):5902-7. doi: 10.1073/pnas.0730858100. Epub 2003 Apr 28. |
| 12893986 | Background | Kroetz DL, Pauli-Magnus C, Hodges LM, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, DeYoung J, Taylor T, Carlson EJ, Herskowitz I, Giacomini KM, Clark AG; Pharmacogenetics of Membrane Transporters Investigators. Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics. 2003 Aug;13(8):481-94. doi: 10.1097/00008571-200308000-00006. |
| 14978229 | Background | Gray JH, Mangravite LM, Owen RP, Urban TJ, Chan W, Carlson EJ, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, Giacomini KM. Functional and genetic diversity in the concentrative nucleoside transporter, CNT1, in human populations. Mol Pharmacol. 2004 Mar;65(3):512-9. doi: 10.1124/mol.65.3.512. |
| 15738947 | Background | Badagnani I, Chan W, Castro RA, Brett CM, Huang CC, Stryke D, Kawamoto M, Johns SJ, Ferrin TE, Carlson EJ, Burchard EG, Giacomini KM. Functional analysis of genetic variants in the human concentrative nucleoside transporter 3 (CNT3; SLC28A3). Pharmacogenomics J. 2005;5(3):157-65. doi: 10.1038/sj.tpj.6500303. |
| 15861032 | Background | Owen RP, Gray JH, Taylor TR, Carlson EJ, Huang CC, Kawamoto M, Johns SJ, Stryke D, Ferrin TE, Giacomini KM. Genetic analysis and functional characterization of polymorphisms in the human concentrative nucleoside transporter, CNT2. Pharmacogenet Genomics. 2005 Feb;15(2):83-90. doi: 10.1097/01213011-200502000-00004. |