Genetic association study of ERBB4 SNP rs1351592 with polycystic ovary syndrome in Pakistani population

被引：2

作者：

Afzal, Tayyaba ^{[1
]}

Raja, Ghazala Kaukab ^{[2
]}

Afzal, Maimoona ^{[3
]}

Ahmad, Shakeel ^{[4
]}

Sultana, Nighat ^{[1
]}

Kalsoom, Umm E. ^{[1
]}

机构：

[1] Hazara Univ, Dept Biochem, Mansehra, Pakistan

[2] PMAS Arid Agr Univ, Univ Inst Biochem & Biotechnol, Rawalpindi, Pakistan

[3] Royal Stroke Univ Hosp, Stoke On Trent, England

[4] Ayub Med Inst Hosp, Special Chem Lab, Abbottabad, Pakistan

来源：

JOURNAL OF THE PAKISTAN MEDICAL ASSOCIATION | 2021年 / 71卷 / 01期

关键词：

Polycystic ovary syndrome; ERBB4; Multifactorial disorder; Pakistani population; PREVALENCE; WOMEN;

D O I：

10.47391/JPMA.1026

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Polycystic ovary syndrome (PCOS) is an oligogenic condition characterised by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Previously, European and Han Chinese populations identified different susceptibility loci, of which ERBB4 (rs1351592) was strongly associated with PCOS. Our study aimed to investigate the association of ERBB4 Single Nucleotide Polymorphism (SNP), rs1351592 with PCOS in Pakistani women of Hazara region. Fifty PCOS patients and 14 healthy women were recruited and SNP was replicated using ARMS-PCR and sequencing. The study showed that Luteinising Hormone (LH), Follicle Stimulating Hormone (FSH), and Testosterone (T) were significantly elevated in patients compared to controls (P <0.05). Overall, the frequency of G allele was higher than C allele and the SNP lacked significant association with PCOS.

引用

页码：332 / 335

页数：4

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