PMID- 33313200 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220418 IS - 2305-5839 (Print) IS - 2305-5847 (Electronic) IS - 2305-5839 (Linking) VI - 8 IP - 21 DP - 2020 Nov TI - Systemic risk factors correlated with hyperhomocysteinemia for specific MTHFR C677T genotypes and sex in the Chinese population. PG - 1455 LID - 10.21037/atm-20-6587 [doi] LID - 1455 AB - BACKGROUND: Methyltetrahydrofolate reductase (MTHFR) is a main regulatory enzyme in homocysteine (Hcy) metabolism. A common C677T mutation in the MTHFR gene results in decreased enzyme activity, which contributes to hyperhomocysteinemia (HHcy). Previous studies have shown that HHcy was correlated with various systemic diseases, such as cardiovascular disease, stroke, cancer, renal failure and so on. However, we hypothesized that HHcy in different genotype and sex groups may have different risk factors, which would lead to various pathologic states. Therefore, the aim of this study was to explore systemic information that are correlated with HHcy for specific MTHFR C677T genotypes and sex, which might be useful for predicting and preventing systemic diseases. METHODS: This cross-sectional study was performed through November 2017 to July 2019. A total of 4,534 adults aged 20-75 y were selected for this study. All the participants underwent a physical examination, blood tests and MTHFRC677T genotyping. Multivariable linear regression was performed to explore the risk factors for HHcy for each sex and genotype. RESULTS: The average of Hcy level is higher in the TT genotype than CC and CT genotypes (P=0.000). Multiple linear regression analysis identified the common protective factors (folate and Vit B12) and risk factor (Cr) for HHcy. Besides that, each group has its specific risk factors-female-CT (age, SBP, and Hb), female-TT (SBP and AST); male-CC (age, AST and Hb), male-CT (age and AST) and male-TT (SBP, AST, and Hb). CONCLUSIONS: HHcy was associated with different risk factors for each specific sex and genotype. These risk factors might be useful for predicting and preventing systemic diseases. CI - 2020 Annals of Translational Medicine. All rights reserved. FAU - Xiang, Tianyuan AU - Xiang T AD - China Health Management Institute, The Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China. AD - Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research at USC, Los Angeles, CA, USA. FAU - Xiang, Hang AU - Xiang H AD - Eli and Edythe Broad CIRM Center for Regenerative Medicine and Stem Cell Research at USC, Los Angeles, CA, USA. AD - Department of Cardiology, Chinese PLA General Hospital, Beijing, China. FAU - Yan, Muyang AU - Yan M AD - Department of Hyperbaric-Oxygen, Chinese PLA General Hospital, Beijing, China. FAU - Yu, Sheng AU - Yu S AD - Department of Hepatobiliary Surgery, Nanfang Hospital, Southern Medical University, Guangzhou, China. FAU - Horwedel, Matthew John AU - Horwedel MJ AD - Division of Engineering in Medicine, Brigham and Women's Hospital, Harvard Medical School, Cambridge, MA, USA. FAU - Li, Yang AU - Li Y AD - Department of Cardiology, Chinese PLA General Hospital, Beijing, China. FAU - Zeng, Qiang AU - Zeng Q AD - China Health Management Institute, The Second Medical Center & National Clinical Research Center for Geriatric Diseases, Chinese PLA General Hospital, Beijing, China. LA - eng PT - Journal Article PL - China TA - Ann Transl Med JT - Annals of translational medicine JID - 101617978 PMC - PMC7723589 OTO - NOTNLM OT - Hyperhomocysteinemia OT - MTHFR polymorphism OT - risk factor OT - sex COIS- Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/atm-20-6587). The authors have no conflicts of interest to declare. EDAT- 2020/12/15 06:00 MHDA- 2020/12/15 06:01 PMCR- 2020/11/01 CRDT- 2020/12/14 10:59 PHST- 2020/12/14 10:59 [entrez] PHST- 2020/12/15 06:00 [pubmed] PHST- 2020/12/15 06:01 [medline] PHST- 2020/11/01 00:00 [pmc-release] AID - atm-08-21-1455 [pii] AID - 10.21037/atm-20-6587 [doi] PST - ppublish SO - Ann Transl Med. 2020 Nov;8(21):1455. doi: 10.21037/atm-20-6587.