Work

Genetic association of AIP gene variant c.910C>T with pituitary adenoma-acromegaly patients of Pakistani origin

Year: 2025

Type: article

Abstract: Objectives: To investigate the association of aryl hydrocarbon receptor-interacting protein gene single nucleotide polymorphism (c.910C>T) with acromegaly in pituitary adenoma patients. METHODS: The multi-centre cross-sectional study was conducted at the departments of Endocrinology and Neurosurgery, Fatima Memorial Hospital and Jinnah Hospital, Lahore, Pakistan, from February to June, 2023, and comprised healthy controls in group A and patients of pituitary adenoma in group B. Blood samples were used for deoxyribonucleic acid extraction and amplification refractory mutation system-polymerase chain reaction testing. The association of single nucleotide polymorphism was checked using the PLINK tool. Data was analysed using SPSS 27. RESULTS: Of the 58 subjects, 29(50%) were in control group A. There were 29(50%) subjects in group B; 19(65.5%) females and 10(34.5%) males with mean age 32±9.469 years and median age 30 years (interquartile range: 14 years). Macroadenomas were significantly prevalent 21(72.4%) compared to microadenomas 8(27.6%). Prolactinoma was the most common diagnosis 16(55.2%), followed by acromegaly 8(27.6%). Gender showed a significant association with adenoma size (p=0.015). Single nucleotide polymorphism c.910C>T was not detected. CONCLUSIONS: Pituitary adenoma disproportionately affected females, with macroadenomas being prevalent and having an association with male gender and acromegaly No aryl hydrocarbon receptor-interacting protein gene single nucleotide polymorphism c.910C>T was noted, suggesting population-specific variations.

Source: Journal of the Pakistan Medical Association

DOI: 10.47391/jpma.11442

Authors: Jahangir Ghafoor, Saghir Ahmad Jafri, Rashid Saif, Sadaf Iqbal, Hafiza Hamna Gill, Ali Hassan

Institutions: Nur International University, Qarshi University, Allama Iqbal Medical College

Language: English

Topic: Pituitary Gland Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $650