Evidences has been accumulated the difference of cardiovascular phenotypes in autistic spectrum disorder (ASD). To determine the genetic association between fibrinogen beta chain (FGB) gene and ASD in Korean population, we genotyped single nucleotide polymorphism (SNP) (rs4220, Arg478Lys, exon 8) in the FGB gene by using direct sequencing. Among nonsynonymous SNPs in the coding region of FGB, only one SNP's heterozygosity (rs4220) is more than 0.05. Therefore, we analyzed the association between rs4220 and ASD. Three hundred six control and 196 ASD subjects were evaluated. For the analysis of genetic data, SNPStats, SNPAnalyzer, and Helixtree programs were used. Multiple logistic regression analysis (codominant, dominant, and recessive models) was also used. The result showed that a SNP (rs4220) in the FGB gene was not significantly difference between ASD and controls in three alternative models. This result suggests that the FGB gene may have no relation to the development of ASD.
Clinical Coding ; Exons ; Fibrinogen ; Logistic Models ; Phenotype ; Polymorphism, Single Nucleotide

Background: Despite the global increase in nontuberculous mycobacterial pulmonary disease (NTM-PD), clinical characteristics show geographical variations. We investigated the clinical characteristics of patients with NTM-PD in South Korea. Methods: We systematically reviewed articles concerning patients with NTM-PD in South Korea until February 2022. Individual participant data, regardless of treatment, were collected using a standard case report form. Results: Data of 6,489 patients from 11 hospitals between 2002 and 2019 were analyzed. The mean age was 61.5±11.7 years, of whom 57.7% were women. Mycobacterium avium (41.4%) and Mycobacterium intracellulare (38.4%) comprised most of the causative species, followed by Mycobacterium abscessus subspecies abscessus (8.6%) and M. abscessus subspecies massiliense (7.8%). Bronchiectasis (59.4%) was the most common pulmonary comorbidity. Although reported cases of NTM-PD increased over the years, the proportions of causative species and radiologic forms remained similar. Distinct clinical characteristics were observed according to age and sex. Men were older at the time of diagnosis (median 63.8 years vs. 59.9 years, p<0.001), and had more cavitary lesions than women (38.8% vs. 21.0%, p<0.001). The older group (≥65 years) had higher proportions of patients with body mass index <18.5 kg/m2 (27.4% vs. 18.6%, p<0.001) and cavitary lesions (29.9% vs. 27.6%, p=0.009) than the younger group. Conclusion We conducted a meta-analysis of the clinical characteristics of patients with NTM-PD in South Korea, and found age- and sex-related differences in disease- specific severity. Further investigation would enhance our comprehension of the nature of the disease, and inherited and acquired host factors.