rs243865

This case-control study analyzes 28 SNPs in 26 inflammatory response genes in 343 patients (100 with appendicitis, 243 controls) using TaqMan genotyping. Significant associations were found for IL-13 rs1800925 (OR=6.02, 95% CI 1.52-23.78), IL-17 rs2275913 (OR=2.38, 95% CI 1.24-4.57), and CCL22 rs223888 (OR=0.12, 95% CI 0.02-0.90), suggesting a genetic-driven inflammatory response as a pathogenic mechanism in appendicitis.

A functional study of SNP rs767649 in the miR-155 promoter region and its role in intracranial aneurysm (IA) rupture in 94 IA patients (48 ruptured, 46 unruptured). The A allele increased miR-155 transcription activity compared to the T allele; TT genotype carriers showed lower miR-155 and higher MMP-2 expression, with increased IA rupture risk. Luciferase assays and cell transfection studies confirmed miR-155 negatively regulates MMP-2, a key enzyme in extracellular matrix degradation.

Association study of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts in Brazilian case-control (494 cases, 413 controls) and US family-based (881 families) cohorts. MMP3 rs522616 showed strong association with all clefts (P=0.00002), cleft lip/palate (P=0.0009), and cleft palate (P=0.006). TIMP2 rs8179096 associated with all clefts (P=0.004), cleft lip/palate (P=0.01), and cleft palate (P=0.02). Significant gene-gene interaction between MMP3-TIMP2 detected (P=0.000001).

Genetic association study of 202 melanoma patients examining SNPs in 24 candidate genes related to pigmentation and wound healing in relation to scar outcome. SNP rs8110090 in TGFβ1 was significantly associated with poorer scar outcomes (p=0.0002). Clinical factors including younger age, shorter time since surgery, and presence of infection or eczema were also associated with worse scarring.

This candidate gene association study examined 218 postmenopausal women at high breast cancer risk, testing 79 SNPs in steroid metabolism, receptor, cell cycle control, DNA repair, and carcinogen metabolism genes for associations with abnormal breast tissue cytomorphology (RPFNA atypia) as a biomarker for HRT-related breast cancer risk. Key findings: RAD54 Gln929Glu (rs3088074, OR=1.74), TFR Gly142Ser (rs3817672, OR=1.98, p=0.0025), VEGF 3'UTR (rs3025039, OR=2.12), and ACE I/D (rs4646994, OR=0.55) were associated with RPFNA atypia. RAD23B Ala249Val (rs1805329) showed strongest association with worsening cytomorphology on HRT versus off HRT (p=0.0009) and ERCC1 3'UTR (rs3212986) was borderline significant (p=0.0015). Results suggest DNA repair gene polymorphisms may modify breast tissue response to exogenous estrogens.

This comprehensive review examines genetic association studies on prostate cancer, discussing GWASs that have identified over 75 variants associated with PCa risk (as of February 2016), with major susceptibility regions at 8q24, 17q12, 17q24, 10q11, and 19q13. The paper also reviews candidate gene-based approaches targeting genes involved in androgen signaling, carcinogen metabolism, DNA repair, vitamin D signaling, inflammation, angiogenesis, and cellular adhesion, as well as regulatory RNA genes.

Case-control study of 157 knee osteoarthritis patients versus 84 Turkish controls found significant association with MMP-1 rs1799750 (-1,607 1G/2G) polymorphism. The 1G/1G genotype showed OR=8.05 (95% CI: 2.18-29.71, P=0.002) and 1G/2G genotype showed OR=3.20 (95% CI: 1.39-7.37, P=0.006) for osteoarthritis risk. The 1G allele frequency was significantly higher in patients (38.1%) versus controls (21%, P=0.0001). No significant associations were found for MMP-2 or MMP-9 polymorphisms with knee osteoarthritis.

A candidate gene association study of 6,752 women from the Study of Osteoporotic Fractures examined 31 polymorphisms in 18 candidate osteoporosis genes for associations with fracture risk and bone mineral density. ALOX15_G48924T (rs7220870) T/T genotype was associated with 33% higher hip fracture risk (HR=1.33, 95% CI 1.00-1.77); PRL_T228C (rs7739889) C alleles reduced nonvertebral fracture risk by ~20%; BMP2_A125611G (rs235764) G/G showed 51% higher vertebral fracture risk (OR=1.51, 95% CI 1.03-2.23); and MMP2_C595T (rs243865) T allele carriers had reduced vertebral fracture risk. No significant associations were found with total hip BMD.