Genome-wide association study identifies common variants associated with breast cancer in South African Black women

被引：0

作者：

Hayat, Mahtaab ^{[1
,2
]}

Chen, Wenlong C. ^{[1
,3
,4
]}

de Villiers, Chantal Babb ^{[5
,6
]}

Lee, Sang Hyuck ^{[7
,8
]}

Curtis, Charles ^{[7
,8
]}

Newton, Rob ^{[9
,10
,11
]}

Waterboer, Tim ^{[12
]}

Sitas, Freddy ^{[13
,14
,15
]}

Bradshaw, Debbie ^{[13
]}

Muchengeti, Mazvita ^{[3
,16
,17
]}

Singh, Elvira ^{[3
,17
]}

Lewis, Cathryn M. ^{[7
,18
]}

Ramsay, Michele ^{[1
]}

Mathew, Christopher G. ^{[1
,5
,6
,18
]}

Brandenburg, Jean-Tristan ^{[1
,4
]}

机构：

[1] Univ Witwatersrand, Sydney Brenner Inst Mol Biosci, Fac Hlth Sci, Johannesburg, South Africa

[2] Univ Witwatersrand, Sch Mol & Cell Biol, Johannesburg, South Africa

[3] Natl Hlth Lab Serv, Natl Canc Registry, Johannesburg, South Africa

[4] Univ Witwatersrand, Fac Hlth Sci, Strengthening Oncol Serv Res Unit, Johannesburg, South Africa

[5] Univ Witwatersrand, Natl Hlth Lab Serv, Div Human Genet, Johannesburg, South Africa

[6] Univ Witwatersrand, Fac Hlth Sci, Sch Pathol, Johannesburg, South Africa

[7] Kings Coll London, Inst Psychiat Psychol & Neurosci, Social Genet & Dev Psychiat Ctr, London, England

[8] South London & Maudsley NHS Fdn Trust, Natl Inst Hlth & Care Res, Maudsley Biomed Res Ctr, London, England

[9] UVRI, MRC, Entebbe, Uganda

[10] LSHTM Uganda Res Unit, Entebbe, Uganda

[11] Univ York, York, England

[12] German Canc Res Ctr, Infect & Canc Epidemiol, Heidelberg, Germany

[13] South African Med Res Council, Burden Dis Res Unit, Cape Town, South Africa

[14] UNSW, Int Ctr Future Hlth Syst, Sydney, NSW, Australia

[15] Univ New South Wales, Sch Populat Hlth, Sydney, NSW, Australia

[16] Stellenbosch Univ, South African DSI NRF Ctr Excellence Epidemiol Mod, Stellenbosch, South Africa

[17] Univ Witwatersrand, Fac Hlth Sci, Sch Publ Hlth, Johannesburg, South Africa

[18] Kings Coll London, Fac Life Sci & Med, Dept Med & Mol Genet, London, England

来源：

NATURE COMMUNICATIONS | 2025年 / 16卷 / 01期

基金：

英国医学研究理事会;

关键词：

SUSCEPTIBILITY LOCI; METAANALYSIS; SUBTYPES; RISK; DNA;

D O I：

10.1038/s41467-025-58789-0

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Genome-wide association studies (GWAS) have characterized the contribution of common variants to breast cancer (BC) risk in populations of European ancestry, however GWAS have not been reported in resident African populations. This GWAS included 2485 resident African BC cases and 1101 population matched controls. Two risk loci were identified, located between UNC13C and RAB27A on chromosome 15 (rs7181788, p = 1.01 x 10-08) and in USP22 on chromosome 17 (rs899342, p = 4.62 x 10-08). Several genome-wide significant signals were also detected in hormone receptor subtype analysis. The novel loci did not replicate in BC GWAS data from populations of West Africa ancestry suggesting genetic heterogeneity in different African populations, but further validation of these findings is needed. A European ancestry derived polygenic risk model for BC explained only 0.79% of variance in our data. Larger studies in pan-African populations are needed to further define the genetic contribution to BC risk.

引用

页数：11

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