Influence of number of controls on the importance of associations of genetic markers with development of multifactorial diseases
Abstract
For association study results for SNP IL12B (rs3212227), IL4RA (rs1805010) and GSTM1 (del) with secondary tuberculosis, atrophy bronchial asthma, 1 type diabetes, we estimated effect of sample size on association significance. We have shown that it is possible to increase significance level of association with some common diseases by increasing number of controls.
About the Authors
E. J. Bragina
СО РАМН
Russian Federation
Russian Federation
S. V. Bujkin
НИИМГ СО РАМН
Russian Federation
Russian Federation
References
1. Бабенко С.А. Роль аллельных вариантов генов иммунного ответа в развитии рассеянного склероза: автореф. дис…канд.мед.наук / С.А. Бабенко. – Томск: НИП, 2008. – 23 с.
2. Вейр Б. Анализ генетических данных. Пер. с англ. / Б. Вейр. – М.: Мир, 1995. – 400 с.
3. Колоколова О.В. Аллельные варианты генов-кандидатов подверженности туберкулезу у русского населения Западной Сибири: автореф. дис…канд.мед.наук / О.В. Колоколова. – Томск: НИП, 2005. – 18 с.
4. Кучер А.Н. Исследование ассоциаций аллельных вариантов генов с мультифакториальными заболеваниями: проблема формирования контрольных групп / А.Н. Кучер // Генетик человека и патология: сб. науч. тр. - Томск: Изд-во «Печатная мануфактура», 2007. – Вып. 8. –– С. 328-331.
5. Тарасенко Н.В. Патогенетика сахарного диабета 1 типа и его осложнений: гены синтаз оксида азота и цитокинов: автореф. дис…канд.мед.наук / Н.В. Тарасенко – Томск: НИП, 2008. – 23 с.
6. A comparison of case-control and family-based association methods: The example of sickle-cell and malaria / H. Ackerman [et al.] // Ann. Hum. Genet. – 2005. – V. 69. – P. 559–565.
7. A comprehensive review of genetic association studies / J.N. Hirschorn [et al.] // Genet. Med. – 2002. – V. 4. – P. 45-61.
8. Cardon L.R. Population stratification and spurious allelic association / L.R. Cardon, L.J. Palmer // Lancet. – 2003. – V. 361. – P. 598–604.
9. Counterpoint: bias from population stratification is not a major threat to the validity of conclusions from epidemiological studies of common polymorpHisms and cancer. S. Wacholder [et al.] // Cancer Epidemiol. Biomarkers Prev. – 2002. – V. 11. – P. 513–520.
10. Family-based versus unrelated case-control designs for genetic associations / E. Evangelou [et al.] // Plos Genetics. - 2006. – V. 2 (8). – P. 1147-1155.
11. Genetic association analysis using data from triads and unrelated subjects / M.P. Epstein [et al.] // Am. J. Hum. Genet. – 2005. – V. 76. – P. 592–608.
12. Genome-wide association studies: Theoretical and practical concerns / W.Y. Wang [et al.] // Nat. Rev. Genet. – 2005. – V. 6. – P.109–118.
13. Hattersley A.T. What makes a good genetic association study? / A.T. Hattersley, M.I. McCarthy // Lancet. – 2005. – V. 366. – P. 1315–1323.
14. Ioannidis J.P. Genetic associations: False or true? / J.P. Ioannidis // Trends. Mol. Med. – 2003. – V. 9. -P. 135–138.
15. Kazeem G.R. Integrating case-control and TDT studies / G.R. Kazeem, M. Farrall // Ann. Hum. Genet. – 2005. – V. 69. – P. 329–335.
16. Mitchell L.E. Relationship between casecontrol studies and the transmission/disequilibrium test / L.E. Mitchell // Genet. Epidemiol. – 2000. – V. 19. – P. 193–201.
17. Phases of biomarker development for early detection of cancer / M. S. [et al.] Pepe // J. Nat. Cancer Inst. – 2001. – V. 93. – P. 1054–1061.
18. Shifting paradigm of association studies: value of rare SNPs / I.P. Gorlov [et al.] // Am.J. Hum. Genet. – 2008. – V. 82. – P. 100-112.
19. The Wellcome trust Case Control Consortium. Genome-wide association study of 14000 cases of seven common diseases and 3000 shared controls // Nature. - 2007. – V. 447. – P. 661-678.
20. Thomas D.C. Point population stratification: A problem for case-control studies of candidate-gene associations? / D.C. Thomas, J.S. Witte // Cancer Epidemiol. Biomarkers Prev. – 2002. – V. 11. – P. 505–512.
21. Weinberg C.R. A hybrid design for studying genetic influences on risk of diseases with onset early in life / C.R. Weinberg, D.M. Umbach // Am. J. Hum. Genet. – 2005. – V. 77. – P. 627–636.
Review
For citations:
Bragina E.J., Bujkin S.V. Influence of number of controls on the importance of associations of genetic markers with development of multifactorial diseases. Yakut Medical Journal. 2009;(2):142-144. (In Russ.)
Views:
5
Email this article 