CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome

Abstract

Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In addition, an association between the CTLA-4 G/G genotype and obesity was detected in TS patients (p=0.02, OR=6.04). Regarding, the -550(H/L) polymorphism in the MBL2 promoter, the frequency of the H/L genotype was significantly higher in the TS group than healthy controls (p=0.01, OR=1.96). The H/H genotype indicated a protective effect in TS patients (p=0.01, OR=0.23). No differences were observed in the distribution of -221(X/Y), MBL2 exon 1 variants, and PTPN22 +1858G/A in any assessed groups. CTLA-4 variants are potentially involved in obesity in this cohort of TS patients from northeastern Brazil.

Association between the CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants with vitiligo: study on a Mexican population

“…In Latin America, CTLA4 genetic variants have only been correlated with the development of obesity in northeastern Brazil, 23 type 1 diabetes mellitus in Chile, 24 FVIII inhibitor development in hemophilia A (HA) patients from Argentina, 25 diffuse cutaneous leishmaniasis in Venezuela, 26 and hepatitis C virus 27 and rheumatoid arthritis in Mexico. 28 …”

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome

“…One polymorphism in the suppressor of cytokine signaling 2 gene ( SOCS2 ) was also linked to adult height after rhGH treatment (18). Furthermore, polymorphisms in the protein tyrosine phosphatase non-receptor type 2 gene ( PTPN22 ) (19) and the myosin IXB gene ( MYO9B ) (20) were associated with a higher risk of autoimmune diseases; polymorphisms in the vitamin D receptor gene ( VDR ) were related to lower BMD and higher levels of bone markers (21); and a polymorphism in the cytotoxic T lymphocyte-associated protein 4 gene ( CTLA -4) was linked to obesity in these patients (22). Finally, ESR1 rs2234693 and rs9340799 were associated with bone mass gain in lumbar spine after the onset of estrogen replacement in adult TS patients (12).…”