UNASSIGNED: Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2-3% of all infants. DDH increases the risk of osteoarthritis, is the cause of 30 ​% of all total hip arthroplasties (THAs) in adults <40 years of age and can result in loss of life quality. Our aim was to explore the genetic background of DDH in order to improve diagnosis, management and longterm outcome.
UNASSIGNED: We used the large, ongoing, longitudinal Trøndelag Health Study (HUNT) database. Case definition was based on ICD-9/-10 diagnoses of DDH, or osteoarthritis secondary to DDH. Analyses were performed using SAIGE software, with covariates including sex, batch, birth year and principal components. We included only single nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) ≥ 0.01, R2≥ 0.8 and Hardy-Weinberg equilibrium (HWE) P-value ≥ 0.0001. Significance level was set at p ​< ​5 ​× ​10-8. Meta-analysis using data from DDH and primary osteoarthritis genome-wide association studies (GWASs) was done using METAL software. The study was approved by the regional ethical committee.
UNASSIGNED: Analysis included 69,500 individuals, of which 408 cases, and 8,531,386 SNPs. Two SNPs near COL11A1 were significantly associated with DDH; rs713162 (β ​= ​-0.43, SE ​= ​0.07, p ​= ​8.4 ​× ​10-9) and rs6577334 (β ​= ​-0.43, SE ​= ​0.08, p ​= ​8.9 ​× ​10-9). COL11A1 has previously been associated with acetabular dysplasia and osteoarthritis. Meta-analysis supported previous GWAS findings of both DDH and primary osteoarthritis.
UNASSIGNED: This large, genome-wide case-control study indicates an association between COL11A1 and DDH and is an important contribution to investigating the etiology of DDH, with further research needed.

OBJECTIVE: To evaluate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in collagen, type XI, alpha 1 (COL11A1) and collagen, type XVIII, alpha 1 (COL18A1) genes in a Han Chinese population.
METHODS: A total of 869 patients with HM and 804 controls were recruited for this study. The genotyping of five SNPs in COL11A1 and COL18A1 was performed using the SNaPshot method. The genotyping data were analyzed using the χ2 test, and the linkage disequilibrium block structure was calculated and examined by Haploview software.
RESULTS: No statistically significant differences (p > 0.05) were identified between HM cases and controls after a Bonferroni correction for multiple tests in the allele frequencies of COL11A1 and COL18A1 SNPs. However, the G allele of rs2236475 showed a susceptible effect for HM (p = 0.016, corrected p = 0.08, odds ratio [OR] = 1.26). Moreover, the carriers of rs2236475GG genotype displayed an increased risk of HM compared with the rs2236475AA and rs2236475AG+AA genotypes (p = 0.008, OR = 1.79, confidence interval [95% CI] = 1.18-2.64, uncorrected; p = 0.012, OR = 1.74, 95% CI = 1.12-2.57, corrected, respectively).
CONCLUSIONS: Our results suggested that common polymorphisms in these two candidate genes were unlikely to play major roles in the genetic susceptibility to HM. Nevertheless, to avoid filtering real myopia genes, the role of COL11A1 and COL18A1 in the pathogenesis of myopia requires more refinement in both animal models and human genetic epidemiological studies.

OBJECTIVE: To investigate the association of PLEKHA7 and COL11A1 with primary angle closure glaucoma, as well as acute and chronic subphenotype, in a Han Chinese population.
METHODS: A total of 984 cases, including 606 primary angle closure glaucoma (PACG) and 378 primary angle closure (PAC), and 922 normal controls were recruited. Twelve single nucleotide polymorphisms (SNPs) (rs1676486, rs3753841, rs12138977, rs2126642, rs2622848, rs216489, rs1027617, rs366590, rs11024060, rs6486330, rs11024097, and rs11024102) in the PLEKHA7 gene and COL11A12 gene were genotyped. Distributions of allele frequencies were compared between cases and controls as well as in patient subgroups with or without acute attacks.
RESULTS: Four of the 12 SNPs, including rs1676486 (P = 0.0060) and rs12138977 (P = 0.028) in COL11A1, as well as rs216489 (P = 0.0074) and rs11024102 (P = 0.038) in PLEKHA7, were found to have a statistically significant association with PAC/PACG. In the subgroup analysis, 6 out of 12 SNPs (rs1676486, rs3753841, rs12138977, rs216489, rs11024060, and rs11024102) showed statistically significant differences between acute PAC/PACG cases and controls. However, none of them showed statistically significant differences between chronic PAC/PACG cases and controls.
CONCLUSIONS: Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population, supporting prior reports of the association of COL11A1 and PLEKH7 with angle closure glaucoma. Both COL11A1 and PLEKHA7 were shown to confer significant risk for acute PAC/PACG. Further work is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma.