1.A cross-sectional study on the prevalence and risk factors of erectile dysfunction among young and middle-aged male patients with diabetes mellitus at a Tertiary Hospital in Manila.
Edmond R. DAVID ; Elaine C. CUNANAN ; Erick S. MENDOZA
Journal of Medicine University of Santo Tomas 2026;10(1):1827-1836
This study aims to determine the prevalence of erectile dysfunction (ED) and identify its associated risk factors among young and middle-aged Filipino male patients diagnosed with diabetes mellitus. This study utilized a cross-sectional design to investigate the prevalence and associated factors of ED among male patients with diabetes. A total of 423 participants were recruited from clinical settings using purposive sampling. Data were collected using structured interviews and medical records, including demographics, comorbidities and laboratory results. Among 423 male diabetic patients, 78% were found to have ED. Patients with ED were significantly older (median: 49.5 versus 42 years, p<0.001), had higher body mass index (BMI), longer diabetes duration and more comorbidities. Univariable logistic regression showed that age (OR: 1.06, p<0.001), diabetes duration (OR: 1.11, p<0.001), hypertension (OR: 1.62, p = 0.042), dyslipidemia (OR: 1.75, p = 0.022), elevated HbA1c (>9.0%; OR: 3.43, p = 0.034) and serum creatinine (OR: 1.01, p = 0.008) were significantly associated with ED. However, none remained significant in the multivariable model. Male Filipino patients with diabetes have a significant burden of ED. Results of the univariable models show that age, duration of diabetes, hypertension, dyslipidemia, HbA1c and serum creatinine are significant individual predictors of ED.
Human ; Male ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Aged: 65-79 Yrs Old ; Tertiary Care Centers ; Risk Factors ; Risk ; Medical Records ; Erectile Dysfunction ; Diabetes Mellitus ; Philippines
2.Knowledge, attitude and practice on sexually transmitted infections among men and women aged 15-24 years old in Sampaloc, Manila.
Heinze Joseph L. LOPEZ ; Kent Aldrin V. LUZARRAGA ; Christian Rafael B. LORENZO ; Paolo Jose A. LORENZO ; Yannah Mae F. LOYOLA ; Ann Danelle A. LUCERO ; Abbygale R. LUMANGLAS ; Gelza Mae ZABAT ; Jayron PADUA ; Maria Elizabeth P. MERCADO
Journal of Medicine University of Santo Tomas 2026;10(1):1904-1912
In the Philippines, the rate of sexually transmitted infections (STIs) remains high, and statistics show that the highest prevalence is among individuals between the ages of 15 and 24 years old. Unlike Human Immunodeficiency Virus (HIV), other common STIs, such as gonorrhea, syphilis, HPV and herpes are not well discussed.
A descriptive cross-sectional study was conducted to determine the knowledge, awareness and misconceptions of STIs and their practices among men and women aged 15-24 in Sampaloc, Manila. Convenience sampling was conducted among 15- to 24-year-old residents from Barangay 466, excluding healthcare professionals. Sets of questions were adapted from other knowledge, attitudes and practices (KAP) research studies and underwent cross-cultural validation. Questions were also translated and validated into the Filipino language. Data gathering was conducted using self-administered surveys disseminated through online posting and in-community, as well as face-to-face recruitment.
Among the 104 respondents, HIV remained the most recognized STI (99%), while less than half were aware that chlamydia and hepatitis B are STIs. The most common misconception about STI transmission includes the sharing of food and drinks. In terms of prevention, more than half of the participants believed that oral contraceptive pills can prevent STIs. With regards to attitude, 43.3% of the participants disagreed that watching/reading pornographic materials can contribute to risky sexual practices. Among sexually active participants, 19% do not use condoms, and 65% of them do not get tested annually.
In conclusion, the findings from this study reveal a concerning gap in KAP related to STIs among participants aged 15-24 Filipinos. It is recommended that efforts should be directed towards targeted education campaigns and interventions to empower young individuals with accurate information and foster a responsible approach to sexual health.
Human ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Surveys And Questionnaires ; Sexually Transmitted Diseases ; Residence Characteristics ; Cross-sectional Studies ; Reproductive Health
3.Risk factors of presence and severity of diabetic retinopathy in a Tertiary Hospital.
Gertrude Camille Crisostomo REYES ; Mark Henry JOVEN
Philippine Journal of Internal Medicine 2026;64(1):43-55
BACKGROUND
Diabetic retinopathy (DR) remains to be the leading cause of blindness worldwide. Traditionally, risk factors such as diabetes duration, HbA1c levels, hypertension and dyslipidemia have been closely linked to the development of this condition. However, recent research suggests that these factors account for only a portion of DR cases. Emerging studies highlight additional potential risk factors including diabetic nephropathy, insulin use, and body mass index -though data on these factors remain limited and at times contradictory. While there have been a few local studies exploring some of these variables, none have comprehensively examined how these factors collectively influence the occurrence and severity of diabetic retinopathy. This study aims to asses both the factors associated with presence and occurrence of diabetic retinopathy.
METHODOLOGYThis analytical cross-sectional study included patients with diabetes (n=201, aged 18 years and older) who underwent fundus photography at The Medical City Ortigas between January 1, 2022, and December 31, 2022. Data collection involved a thorough review of patient records, which provided demographic information and details on potential risk factors. The presence and severity of diabetic retinopathy (DR) were assessed based on fundus photography results, as interpreted by ophthalmologists. To evaluate the statistical significance of the association between risk factors and DR status, logistic regression analysis was done
RESULTSDuration of diabetes (odds ratio [OR] 1.07; 95% CI, 1.01-1.13 per year increase), HBA1c (OR 1.4; 95% CI, 1.1-1.86),
fasting blood sugar (OR 1.4; 95% CI, 0.977-0.998), hypercholesterolemia (OR 5.02; 95% CI 1.67-16.44) and presence of
nephropathy (OR 3.39; 95% CI 1.49-8) were correlated with diabetic retinopathy.
The presence of diabetic retinopathy was significantly associated with several clinical factors. Each additional year of diabetes mellitus duration was associated with a 1.07-fold increase in the likelihood of DR. Additionally, each 1% increase in HbA1c was linked to a 1.40-fold increase in DR risk. The presence of diabetic nephropathy and hypercholesterolemia were also strong predictors, associated with a 3.39-fold and 5-fold increase in the likelihood of DR, respectively. Glycemic control, dyslipidemia and nephropathy appear to be associated with more severe forms of diabetic retinopathy. Clinicians handling diabetes patients with this patient profile should be wary of this diabetes complication.
Human ; Male ; Female ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Diabetic Retinopathy ; Hospitals ; Risk ; Risk Factors ; Tertiary Care Centers
4.Approximation of serum bicarbonate concentration using serum carbon dioxide combining power in patients with diabetic ketoacidosis.
Meghan Marie ALIÑO ; Gorgonia PANILAGAO
Philippine Journal of Internal Medicine 2026;64(1):56-62
BACKGROUND
Determination of serum bicarbonate (HCO3 - ) using arterial blood gas analysis in patients with diabetic ketoacidosis allows for the evaluation of the severity of the condition, determines whether HCO3 - therapy is required, and tracks the progression and resolution of the disease. Serum carbon dioxide combining power (CO2CP) from venous chemistry analysis has often been used as an indicator of metabolic acidosis. This study investigated the relationship between HCO3 - and CO2CP and developed an approximation formula for serum bicarbonate concentration using its predictor variables, as this may lessen the need to repeat arterial blood gas analysis or be used in settings in which blood gas analyzers are unavailable.
METHODOLOGYThis single-center, retrospective, cross-sectional study investigated a total of 77 patients diagnosed with diabetic ketoacidosis. Assessment of the bivariate correlations between serum HCO3 - and serum CO2CP as well as other potential predictor variables was done via Pearson’s correlation coefficient. Predictor variables that were significantly correlated with serum HCO3 - were identified and an approximation formula was developed by regression analysis. Evaluation of the correlation between the approximated HCO3 - value and the actual serum HCO3 - concentration was performed using correlation coefficient and residual statistics to assess agreement.
RESULTSSerum CO2CP had significant correlation with serum HCO3 - (r = 0.768, p < 0.05). By multiple regression analysis, the following approximation formula was therefore expressed: HCO3 - = 12.682 + (0.612 x CO2CP) – [ketones] + (0.085 x BUN) - (0.026 x SGPT) – (1.23 x Creatinine) - (0.067 x Chloride). Examination of residuals revealed a mean of zero (0), indicating no significant difference between the actual and approximated levels of serum HCO3 -
CONCLUSIONThe predictor variables included in the formula collectively contribute significantly to the approximation of serum HCO3 - . The approximated serum HCO3 - values also showed significant correlation with actual serum HCO3 - concentration; thus, the formula may be utilized to derive an approximation of serum bicarbonate concentration in patients with diabetic ketoacidosis.
Human ; Male ; Female ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Attention ; Bicarbonates ; Carbon Dioxide ; Diabetic Ketoacidosis ; Ketosis ; Patients ; Carbon ; Power (psychology) ; Power, Psychological ; Serum
5.Case of a 17-year-old with incidental tuberculous liver abscess: A case report.
Dixie Joice C. LOMAAD ; Jeremy Jones F. ROBLES
Philippine Journal of Internal Medicine 2026;64(1):63-69
BACKGROUND
Tuberculosis (TB) has long been a recognized infectious disease contributory to worldwide mortalities. Most cases are from low- to middle-income countries, including the Philippines. Hepatobiliary TB comprises only a small portion of extrapulmonary TB. Tuberculous liver abscess (TLA) usually presents with nonspecific findings causing delay in the diagnosis. Due to this, further reports are needed for early detection along with timely treatment for future courses.
CASEPresenting a 17-year-old male who came in with right upper quadrant abdominal pain associated with intermittent fever. The symptoms persisted and eventually progressed to abdominal distention, weight loss and jaundice. Initial laboratories were taken including an ultrasound finding of a complex lesion in the hepatic lobe. He was initially managed with empiric antibiotic therapy – Ciprofloxacin and Metronidazole, however, despite it, there was persistence of right upper quadrant pain, abdominal distention and jaundice. Due to this, further work-up was done with drainage of the abscess. Cultures were taken revealing tubercle bacilli along with other microbial growth. Antibiotics and antituberculosis medications sensitive to the microorganisms were started. With the noted improvement of jaundice and abdominal distention and resolution of pain and fever, he was discharged.
CONCLUSION Tuberculous liver abscess is an uncommon presentation of extrapulmonary tuberculosis in an
immunocompetent male with right upper quadrant abdominal pain and jaundice. Although TB is endemic in the
Philippines, this gastrointestinal involvement is often not immediately recognized. Thus, with any suspicion of liver abscess,
tuberculous (TLA) type should be included in the differentials for early diagnosis and management.
Human ; Male ; Adolescent: 13-18 Yrs Old ; Abscess ; Liver ; Liver Abscess ; Research Report
6.Intraocular pressure elevation among pediatric patients given corticosteroids after strabismus surgery.
Jewel Faith F. Anotado ; Alvina Pauline D. Santiago
Acta Medica Philippina 2026;60(8):77-85
BACKGROUND
Corticosteroids have been used in ophthalmology for its potent anti-inflammatory and immunosuppressive actions. Although the role of corticosteroid treatment is pivotal in the treatment of numerous inflammatory diseases and as postoperative management of patients who undergo ocular surgeries, intraocular pressure (IOP) elevation has been a significant ocular side effect that could result after steroid use. Evaluating the changes in IOP in pediatric eyes will provide early detection and timely intervention to prevent glaucomatous optic neuropathy.
OBJECTIVEThis study aimed to determine the incidence of IOP elevation among pediatric patients given corticosteroids after strabismus surgery in a tertiary hospital in Manila, Philippines.
METHODSThis is a single-center, retrospective, observational study that employs review of the clinical records of pediatric patients who underwent strabismus surgery between January 2015 and December 2022. This study was conducted last February to November 2023. Data were gathered and descriptively summarized regarding patient demographics, ophthalmologic diagnosis, type of strabismus surgery performed, preoperative and postoperative IOP readings, frequency and duration of postoperative topical steroid use, and treatment received and response to elevated IOP.
RESULTSForty-five (28.48%) out of the 158 pediatric patients who had strabismus surgery during the study period met the inclusion criteria for the study. The mean age of pediatric patients was 11.38 ± 5.28 years (range 2-18 years old). There were more males (55.6%) than females. All patients were administered Tobramycin + Dexamethasone eyedrops, ointment or both. The baseline, peak, and net change in IOP were 13.5 ± 2.7 mmHg, 23.1 ± 8.8 mmHg and 10 ± 8.4 mmHg respectively. IOP increased in thirty-seven (82.2%) of the patients from baseline, and 21 (56.7%) of them had a considerable rise. For most patients with considerable rise of IOP, topical steroid medication was either stopped or immediately tapered off. Nine patients received topical IOP-lowering medicine, and most of them returned to normal IOP levels two months following surgery. After then, topical IOP-lowering drugs were stopped.
CONCLUSIONIOP elevation following strabismus surgery was frequently associated with topical steroid usage, and most patients experienced considerable IOP elevation. It is highly advised to closely monitor IOP following strabismus surgery, particularly in children receiving topical steroid treatment.
Human ; Male ; Female ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Adolescent: 13-18 Yrs Old ; Strabismus ; Intraocular Pressure ; Ophthalmology ; World Health Organization ; Optic Nerve Diseases ; Volition ; General Surgery
7.The Association of Periodontal Disease and Systemic Conditions among Filipino Patients in a University Dental Clinic: A Retrospective Case-control Study.
Zen Alfred B. Nemenzo ; Ma. Celina U. Garcia
Acta Medica Philippina 2026;60(3):70-77
OBJECTIVES
A growing body of evidence points to a positive association between periodontitis and
various systemic diseases, including cardiovascular diseases (CVD), hypertension, and rheumatoid arthritis. However,
there is limited data on the prevalence and odds of having systemic conditions among Filipino periodontal patients.
Thus, this study aimed to determine the association of periodontal disease with systemic conditions among Filipino
patients at a university dental clinic.
The periodontal and medical charts of all patients who underwent periodontal consult at a university
dental clinic within two academic years were reviewed. Periodontal diagnoses which had originally been assigned
using the 1999 classification of periodontal diseases were reclassified based on the 2018 European Federation
of Periodontology-American Academy of Periodontology classification. Listed medical conditions in the patients’
charts were self-reported. The prevalence of various systemic conditions in 715 periodontitis cases was compared
to that of 834 control patients without periodontitis. Fisher’s exact test was performed to evaluate the difference
in the prevalence of comorbidities between groups, while adjusted odds ratios (AOR) were computed using logistic
regression analysis, accounting for age, sex, educational attainment, and smoking status.
The prevalence of having at least one systemic condition was significantly higher among periodontitis patients
(44.5%) compared to non-periodontitis patients (36.3%). Compared to controls, a significantly higher number of
periodontitis cases had two systemic comorbidities (P=0.001). The prevalence of hypertension (18.6% versus 5.04%),
CVD including hypertension (20.42% versus 6.95%), arthritis (9.37% versus 3.0%), and diabetes mellitus (5.73% versus
0.84%) were all significantly higher in patients with periodontitis compared to non-periodontitis controls.
The odds of having CVD (AOR=1.81), hypertension (AOR=2.14) and diabetes (AOR=3.05) were higher in periodontitis cases. Meanwhile, the prevalence of asthma (9.23% versus 5.31%), respiratory diseases including asthma (12.95% versus 8.25%), and allergies (18.82% versus 13.71%) were significantly higher in non- periodontitis patients compared to periodontitis cases.
Periodontitis patients were more likely to present with CVD, hypertension, and diabetes mellitus. On the other hand, no association was found between periodontitis and respiratory diseases, as well as between periodontitis and asthma.
Human ; Male ; Female ; Adolescent: 13-18 Yrs Old ; Young Adult: 19-24 Yrs Old ; Adult: 25-44 Yrs Old ; Middle Aged: 45-64 Yrs Old ; Aged: 65-79 Yrs Old ; Regression (psychology) ; Respiratory Tract Diseases ; Regression Analysis ; Periodontal Diseases ; Cardiovascular Diseases
8.Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I.
Bingjie HU ; Xianhong DING ; Yang LU ; Hongliang CHEN ; Shuaishuai CHEN ; Mengyi XU ; Yicheng FANG ; Bo SHEN
Chinese Journal of Medical Genetics 2026;43(1):19-30
OBJECTIVE:
To explore the genetic variants and phenotypic characteristics of patients with Neurofibromatosis type I (NF1).
METHODS:
Twenty two NF1 patients who presented at Enze Medical (Center) Group in Taizhou between 2018 and 2024 were selected as the study subjects. Clinical phenotype and family history were collected for the patients. Whole exome sequencing (WES) was carried out for the 22 probands to screen the variants of NF1 gene. Candidate variants were verified by Sanger sequencing of their family members. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: K20230902).
RESULTS:
The 22 probands were diagnosed between the age of 5 months to 47 years old, and have all shown cafe au lait spots on their skin. Seventeen patients exhibited the phenotype at birth, and 11 had various degrees of neurofibromatosis. Among them, probands 1 and 13 underwent surgical resection of the tumor but had recurred, while proband 12 had amputation due to the huge size and serious impact of the neurofibroma and had no recurrence. Five patients had various degrees of scoliosis. In total 22 germline mutations and one somatic mutation were identified among the 22 families, with 5 variants unreported previously, including 1 nonsense mutation c.1603C>T (Q535*), 3 frameshift mutations [c.7268_7269delCA (Thr2423fs), c.2293del (Arg765Alafs*26), and c.5433_5438delinsGC (Phe1812ArgfsTer50)], and 1 deletion involving exons 41-44 of the NF1 gene and adjacent introns. Proband 13 was found to harbor germline mutation c.6796C>T (Gln2266Ter) and somatic mutation c.1019_1020del (Ser340Cysfs Ter12) in the peripheral blood and tumor tissue, respectively. Among the 22 NF1 probands, 6 had received treatment due to severe illness. Proband 1 had tumor resection in the right upper limb, but was found to have malignant lung tumor and died during follow-up. Proband 12 had multiple recurrence of neurofibroma in the left ring finger. Proband 4 underwent spinal correction surgery due to severe scoliosis. Proband 11 had died due to a central nervous system disease. Among the 22 germline mutations, 6 had led to the occurrence of truncated proteins, which may have a more severe impact on the phenotype.
CONCLUSION
This study investigated the genetic variants and clinical phenotypes of 22 NF1 families and identified 5 novel variants of the NF1 gene, which has expanded the genotypic and phenotypic spectra of the NF1. Preliminary studies have identified an association between truncated mutations, young age, and severe phenotypes, which may provide important clues for prognosis evaluation. For the clinical diagnosis and treatment of NF1, it is necessary to consider the phenotypic characteristics and genetic testing in combination with genetic counseling and long-term follow-up.
Humans
;
Neurofibromatosis 1/pathology*
;
Male
;
Female
;
Pedigree
;
Adult
;
Child
;
Child, Preschool
;
Middle Aged
;
Adolescent
;
Infant
;
Young Adult
;
Neurofibromin 1/genetics*
;
Phenotype
;
Asian People/genetics*
;
Mutation
;
Exome Sequencing
;
East Asian People
9.Clinical efficacy analysis of seven pediatric patients with Acute myeloid leukemia and the t(16;21)(p11;q22) FUS::ERG fusion gene.
Lihuan SHI ; Shan HUANG ; Xing XIE ; Pengkai FAN ; Haili GAO ; Yanna MAO
Chinese Journal of Medical Genetics 2026;43(2):90-95
OBJECTIVE:
To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene.
METHODS:
A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001).
RESULTS:
Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively.
CONCLUSION
The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans
;
Male
;
Child
;
Female
;
Leukemia, Myeloid, Acute/drug therapy*
;
Oncogene Proteins, Fusion/genetics*
;
Translocation, Genetic
;
Retrospective Studies
;
RNA-Binding Protein FUS/genetics*
;
Chromosomes, Human, Pair 16/genetics*
;
Adolescent
;
Child, Preschool
;
Chromosomes, Human, Pair 21/genetics*
;
Prognosis
;
Treatment Outcome
10.Association of microRNA gene polymorphisms with risk, clinicopathological characteristics and therapeutical efficacy among Chinese patients with Crohn's disease.
Yanlun ZHANG ; Xiaoxiao SHAO ; Daopo LIN ; Yuan XU ; Guolong MA ; Yi JIANG
Chinese Journal of Medical Genetics 2026;43(2):111-122
OBJECTIVE:
To assess the association of microribonucleic acid (miRNA) gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease (CD) and the influence of miRNA gene variants on the response to ustekinumab (UST) treatment among CD patients.
METHODS:
From January 2018 to February 2025, 312 patients diagnosed with CD and 527 gender- and age-matched normal controls were selected as the study subjects at the Department of Gastroenterology of the Second Affiliated Hospital of Wenzhou Medical University. Genotypes of miR-155 (rs767649), miR-21 (rs13137), miR-124 (rs531564) and miR-146a (rs57095329, rs2431697) were determined with multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) technique. The patients were divided into different subgroups according to the Montreal Classification Criteria for CD. Harvey-Bradshaw index (HBI) and simplified endoscopic score for CD were respectively applied to assess the clinical and endoscopic disease activity of CD. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between the two groups, as well as their influence on the clinicopathological characteristics of CD patients. Among them, 185 CD patients received first-line UST treatment, with the first sufficient dose of UST (6 mg/kg) administered intravenously. Based on the changes in HBI at week 8, the response of patients to UST treatment was evaluated. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between clinically responsive group (the decline of HBI ≥ 3 scores compared to week 0) and non-responsive group. All of the P values were adjusted by Bonferroni correction. This study has been approved by the Medical Ethics Committee of the Second Affiliated Hospital of Wenzhou Medical University (Ethics No.: 2025-K-12-01).
RESULTS:
No significant difference was found in the distribution of miRNA gene polymorphisms between the two groups (all P > 0.05). The variant genotype (TC+CC) of rs2431697 was more common among patients with terminal ileal-type and ileocolic-type CD than those with the colonic-type CD (OR = 4.98, 95%CI: 1.49~16.68, P = 0.009, adjusted P = 0.045). However, the opposite conclusion was drawn for the homozygous variant genotype (TT) of rs13137 and variant genotype (GC+CC) of rs531564 (OR = 0.37, 95%CI: 0.18~0.76, P = 0.007, adjusted P = 0.035; OR = 0.36, 95%CI: 0.18~0.73, P = 0.004, adjusted P = 0.020). Compared to patients with non-stricturing and penetrating CD, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common in those with stricturing and penetrating CD (OR = 4.06, 95%CI: 2.46~6.71, P < 0.001, adjusted P < 0.005; OR = 3.12, 95%CI: 2.06~4.73, P < 0.001, adjusted P < 0.005). However, the frequencies of variant genotype (AT+TT) and variant allele (T) of rs13137 were lower among patients with stricturing and penetrating CD than in those without (OR = 0.25, 95%CI: 0.15~0.41, P < 0.001, adjusted P < 0.005; OR = 0.45, 95%CI: 0.33~0.63, P < 0.001, adjusted P < 0.005). Additionally, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common among those with moderately to severely endoscopic activity than those with mildly endoscopic activity (OR = 2.01, 95%CI: 1.19~3.42, P = 0.009, adjusted P = 0.045; OR = 2.04, 95%CI: 1.28~3.25, P = 0.003, adjusted P = 0.015). In total 117 cases had shown clinical response by week 8, while 68 cases showed no response. Compared with t he clinically non-responsive group, the variant genotype (TC+CC) and variant allele (C) of rs2431697 were more common in the clinically responsive group (OR = 3.86, 95%CI: 1.80~8.32, P = 0.001, adjusted P = 0.005; OR = 2.60, 95%CI: 1.34~5.06, P = 0.005, adjusted P = 0.025). However, the variant genotype (TA+AA) of rs767649 was less frequent in the clinically responsive group than the non-responsive group (OR = 0.40, 95%CI: 0.21~0.74, P = 0.004, adjusted P = 0.020). The same conclusion was drawn for the variant genotype (AT+TT) and variant allele (T) of rs13137 when the clinically responsive group was compared with the non-responsive group (OR = 0.30, 95%CI: 0.14~0.63, P = 0.002, adjusted P = 0.010; OR = 0.54, 95%CI: 0.35~0.82, P = 0.005, adjusted P = 0.025).
CONCLUSION
Genetic polymorphisms of miRNAs are not associated with the risk of developing CD. The miR-146a (rs57095329) variant may increase the endoscopic activity of CD and the risk for stenosis or penetration. However, the miR-146a (rs2431697) variant may increase the risk of ileal involvement. The miR-21 (rs13137) variant may reduce the risk of ileal involvement and the risk of stenosis or penetration. The miR-124 (rs531564) variant may reduce the risk of ileal involvement. Among patients receiving UST treatment, the miR-146a (rs2431697) variant may increase the clinical response by week 8. However, both the miR-155 (rs767649) and miR-21 (rs13137) variants may decrease the clinical response by week 8.
Humans
;
MicroRNAs/genetics*
;
Crohn Disease/pathology*
;
Male
;
Female
;
Adult
;
Polymorphism, Single Nucleotide
;
Middle Aged
;
Asian People/genetics*
;
Genetic Predisposition to Disease
;
Genotype
;
Young Adult
;
Case-Control Studies
;
Adolescent
;
East Asian People


Result Analysis
Print
Save
E-mail