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

Abstract

Objective: To investigate the association of aryl hydrocarbon receptor-interacting protein gene single nucleotide polymorphism (c.910C>T) with acromegaly in pituitary adenoma patients.

Method: 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.

Conclusion: 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.

Key Words: Aryl hydrocarbon receptor-interacting protein, Acromegaly, Pituitary adenoma, Mutation.