Related Experiment Video
Updated: Apr 15, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
BTNL2 gene polymorphism and sarcoidosis susceptibility: a meta-analysis
Yihua Lin1, Jia Wei2, Lili Fan2
1Department of Respiratory Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan, China; Department of Respiratory Medicine, the First Affiliated Hospital of Xiamen University, Xiamen, Fujian, China.
The Butyrophilin-like 2 (BTNL2) rs2076530 gene variant is linked to increased sarcoidosis risk. This meta-analysis confirms its contribution to sarcoidosis susceptibility.
Area of Science:
- Genetics and Immunology
- Disease Susceptibility
Background:
- The Butyrophilin-like 2 (BTNL2) gene polymorphism, specifically rs2076530, has been suggested as a factor in sarcoidosis susceptibility.
- Previous research on the association between BTNL2 rs2076530 and sarcoidosis has yielded inconsistent findings.
Purpose of the Study:
- To conduct a meta-analysis to definitively assess the association between the BTNL2 rs2076530 gene polymorphism and susceptibility to sarcoidosis.
Main Methods:
- A systematic literature search was performed using PubMed and Embase to identify relevant case-control studies.
- Data from eligible studies were extracted and pooled using odds ratios (OR) with 95% confidence intervals (CI) to quantify the association.
Main Results:
- The meta-analysis included ten studies with a total of 3303 cases and 2514 controls.
- Significant associations were found between BTNL2 rs2076530 polymorphism and sarcoidosis susceptibility across allelic, dominant, and recessive models.
- Specifically, the allelic model (A vs. G) showed an OR of 1.59 (95%CI: 1.47-1.72), the dominant model (AA + AG vs. GG) showed an OR of 2.10 (95%CI: 1.67-2.65), and the recessive model (AA vs. AG + GG) showed an OR of 1.93 (95%CI: 1.49-2.50).
Conclusions:
- This comprehensive meta-analysis provides strong evidence that the BTNL2 rs2076530 polymorphism is a contributing factor to the risk of developing sarcoidosis.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
10:21Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma
Published on: September 20, 2024
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Single Nucleotide Polymorphisms-SNPs
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Non-LTR Retrotransposons