TY - JOUR
T1 - Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry
AU - Phillips, Anna Evans
AU - LaRusch, Jessica
AU - Greer, Phil
AU - Abberbock, Judah
AU - Alkaade, Samer
AU - Amann, Stephen T
AU - Anderson, Michelle A
AU - Baillie, John
AU - Banks, Peter A
AU - Brand, Randall E
AU - Conwell, Darwin
AU - Coté, Gregory A
AU - Forsmark, Christopher E
AU - Gardner, Timothy B
AU - Gelrud, Andres
AU - Guda, Nalini
AU - Lewis, Michele
AU - Money, Mary E
AU - Muniraj, Thiruvengadam
AU - Sandhu, Bimaljit S
AU - Sherman, Stuart
AU - Singh, Vikesh K
AU - Slivka, Adam
AU - Tang, Gong
AU - Wilcox, C Mel
AU - Whitcomb, David C
AU - Yadav, Dhiraj
AU - Gastroenterology Faculty, Aurora
N1 - Phillips AE, LaRusch J, Greer P, et al. Known genetic susceptibility factors for chronic pancreatitis in patients of European ancestry are rare in patients of African ancestry. Pancreatology. 2018;18(5):528-535.doi: 10.1016/j.pan.2018.05.482
PY - 2018/7/1
Y1 - 2018/7/1
N2 - BACKGROUND: Multiple pathogenic genetic variants are associated with pancreatitis in patients of European (EA) and Asian ancestries, but studies on patients of African ancestry (AA) are lacking. We evaluated the prevalence of known genetic variations in African-American subjects in the US. METHODS: When compared with CP subjects of EA (n = 862), prevalence of established pathogenic genetic variants was infrequent in AA patients with CP, overall (29 vs. 8.19%, OR 4.60, 95% CI 2.74-7.74, p < 0.001), and after stratification by alcohol etiology (p < 0.001). On PCA, AA cases were more heterogeneous but distinct from EA subjects; no difference was observed between AA subjects with and without CP-associated variants. Of 19 A A patients with CP who had pathogenic genetic variants, 2 had variants in PRSS1 (R122H, R122C), 4 in SPINK1 (all N34S heterozygotes), 12 in CFTR (2 CFTRsev, 9 CFTRBD, 1 compound heterozygote with CFTRsev and CFTRBD), and 1 in CTRC (R254W). CONCLUSION: Pathogenic genetic variants reported in EA patients are significantly less common in AA patients. Further studies are needed to determine the complex risk factors for AA subjects with pancreatitis.
AB - BACKGROUND: Multiple pathogenic genetic variants are associated with pancreatitis in patients of European (EA) and Asian ancestries, but studies on patients of African ancestry (AA) are lacking. We evaluated the prevalence of known genetic variations in African-American subjects in the US. METHODS: When compared with CP subjects of EA (n = 862), prevalence of established pathogenic genetic variants was infrequent in AA patients with CP, overall (29 vs. 8.19%, OR 4.60, 95% CI 2.74-7.74, p < 0.001), and after stratification by alcohol etiology (p < 0.001). On PCA, AA cases were more heterogeneous but distinct from EA subjects; no difference was observed between AA subjects with and without CP-associated variants. Of 19 A A patients with CP who had pathogenic genetic variants, 2 had variants in PRSS1 (R122H, R122C), 4 in SPINK1 (all N34S heterozygotes), 12 in CFTR (2 CFTRsev, 9 CFTRBD, 1 compound heterozygote with CFTRsev and CFTRBD), and 1 in CTRC (R254W). CONCLUSION: Pathogenic genetic variants reported in EA patients are significantly less common in AA patients. Further studies are needed to determine the complex risk factors for AA subjects with pancreatitis.
UR - https://institutionalrepository.aah.org/gastrofaculty/6
UR - https://xk8bg6rv9a.search.serialssolutions.com/?sid=Entrez:PubMed&id=pmid:29859674
U2 - 10.1016/j.pan.2018.05.482
DO - 10.1016/j.pan.2018.05.482
M3 - Article
JO - Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
JF - Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
ER -