Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.

While the advent of GWAS more than a decade ago has ushered in remarkable advances in our understanding of complex traits, the limitations of single-SNP analysis have also led to the development of several other approaches. Simulation studies have shown that the regional heritability mapping (RHM) method, which makes use of multiple adjacent SNPs jointly to estimate the genetic effect of a given region of the genome, generally has higher detection power than single-SNP GWAS. However, thus far its use has been mostly limited to agricultural settings, and its potential for the discovery of new genes in human diseases is yet to be fully exploited. In this study, by applying the RHM method to primary biliary cholangitis (PBC) in the Japanese population, we identified three novel loci (STAT4, ULK4, and KCNH5) at the genome-wide significance level, two of which (ULK4 and KCNH5) have not been found associated with PBC in any population previously. Notably, these genes could not be detected by using conventional single-SNP GWAS, highlighting the potential of the RHM method for the detection of new susceptibility loci in human diseases. These findings thereby provide strong empirical evidence that RHM is an effective and practical complementary approach to GWAS in this context. Also, liver tissue mRNA microarray analysis revealed higher gene expression levels in ULK4 in PBC patients (P < 0.01). Lastly, we estimated the common SNP heritability of PBC in the Japanese population (0.210 ± 0.026).

[Hepatic Lateral Segmentectomy for Management of Liver and Adrenal Abscess Following a Laparoscopy-Assisted Left Hemicolectomy - A Case Report].

A 67-year-old woman underwent laparoscopy-assisted left hemicolectomy for early descending colon cancer(pTis, pN0, cH0, cM0, Stage 0).Her postoperative course was uneventful, without fever and/or tenderness at the anastomotic site.A month following discharge from the hospital, enhanced computed tomography revealed a liver abscess measuring 80mm in diameter at the lateral segment and a left adrenal abscess measuring 30mm in diameter.Although some free air and fluid collection was noted near the anastomotic site, there was no tenderness, and a gastrografin enema did not reveal leakage and/or pooling of the contrast agent near the anastomotic site.We administered antibiotics and performed percutaneous transhepatic abscess drainage following which imaging revealed shrinkage of her liver and adrenal abscesses and lowering of fever.However, enhanced computed tomography, performed a month later, revealed recurrence of the liver abscess, for which we performed a hepatic lateral segmentectomy.After undergoing the hepatectomy, she has shown no recurrence of the liver and adrenal abscesses.Several cases of liver abscess have been reported in association with colorectal cancer; however, an adrenal abscess occurring in association with colorectal cancer has not yet been reported.This case reveals that a minor leak could be associated with a liver and adrenal abscess.

[A case of successful radical resection of rectal cancer with neo-adjuvant chemoradiotherapy].

In cases of advanced rectal cancer, preoperative chemoradiotherapy( CRT) serves to improve the local control rate, survival rate, radical resection rate, and/or probability of sphincter muscle preservation. According to the Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2010 for the treatment of colorectal cancer, preoperative CRT is the standard treatment for rectal cancer in Europe and the United States. However, there is insufficient evidence in support of its efficacy and safety in Japan, and therefore, CRT needs to be evaluated in properly designed clinical trials. Recently, several studies have reported on the efficacy of preoperative CRT in Japan. Herein, we report a case of rectal cancer in which radical resection was successfully performed with neo-adjuvant CRT.