Association of Genetic Markers with the Risk of Early-Onset Breast Cancer in Kazakh Women

被引：1

作者：

Skvortsova, Liliya ^{[1
]}

Abdikerim, Saltanat ^{[1
,2
]}

Yergali, Kanagat ^{[1
]}

Mit, Natalya ^{[1
]}

Perfilyeva, Anastassiya ^{[1
]}

Omarbayeva, Nazgul ^{[3
,4
]}

Zhunussova, Aigul ^{[1
]}

Kachiyeva, Zulfiya ^{[5
]}

Sadykova, Tolkyn ^{[3
,4
]}

Bekmanov, Bakhytzhan ^{[1
,2
]}

Kaidarova, Dilyara ^{[3
,4
]}

Djansugurova, Leyla ^{[1
,2
]}

Zhunussova, Gulnur ^{[1
]}

机构：

[1] Inst Genet & Physiol, Lab Mol Genet, Alma Ata 050060, Kazakhstan

[2] Al Farabi Kazakh Natl Univ, Dept Mol Biol & Genet, Alma Ata 050040, Kazakhstan

[3] Kazakh Inst Oncol & Radiol, Breast Canc Dept, Alma Ata 050060, Kazakhstan

[4] Asfendiyarov Kazakh Natl Med Univ, Oncol Dept, Alma Ata 050012, Kazakhstan

[5] Asfendiyarov Kazakh Natl Med Univ, Res Inst Appl & Fundamental Med, Alma Ata 050012, Kazakhstan

来源：

GENES | 2024年 / 15卷 / 01期

关键词：

early-onset breast cancer; microarray-based SNP genotyping; genome-wide association study; genetic variations; genetic markers; Kazakh population; CHITINASE; YKL-39; GROWTH; ALPHA-2-MACROGLOBULIN; EXPRESSION; CELLS;

D O I：

10.3390/genes15010108

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Breast cancer is a global health problem. It is an age-dependent disease, but cases of early-onset breast cancer (eBC) are gradually increasing. There are many unresolved questions regarding eBC risk factors, mechanisms of development and screening. Only 10% of eBC cases are due to mutations in the BRCA1/BRCA2 genes, and 90% have a more complex genetic background. This poses a significant challenge to timely cancer detection in young women and highlights the need for research and awareness. Therefore, identifying genetic risk factors for eBC is essential to solving these problems. This study represents an association analysis of 144 eBC cases and 163 control participants to identify genetic markers associated with eBC risks in Kazakh women. We performed a two-stage approach in association analysis to assess genetic predisposition to eBC. First-stage genome-wide association analysis revealed two risk intronic loci in the CHI3L2 gene (p = 5.2 x 10(-6)) and MGAT5 gene (p = 8.4 x 10(-6)). Second-stage exonic polymorphisms haplotype analysis showed significant risks for seven haplotypes (p < 9.4 x 10(-4)). These results point to the importance of studying medium- and low-penetrant genetic markers in their haplotype combinations for a detailed understanding of the role of detected genetic markers in eBC development and prediction.

引用

页数：15

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