Association of PADI4 rs11203367 Genetic Variant with Rheumatoid Arthritis: A Case-Control Study

Saraswathi P; Logapriya; Nalini

doi:10.51168/n4t9ha85

Autori

Saraswathi P Assistant Professor, Department of Biochemistry, Chengalpattu Medical College, Chengalpattu, Tamil Nadu, India.
Logapriya Assistant Professor, Department of Biochemistry, Thiruvallur Medical College, Thiruvallur, Tamil Nadu, India.
Nalini Assistant Professor, Department of Biochemistry, Government Erode Medical College, Perundurai, Tamil Nadu, India.

DOI:

https://doi.org/10.51168/n4t9ha85

Cuvinte cheie:

Rheumatoid arthritis, PADI4, rs11203367, single nucleotide polymorphism, amplification refractory mutation system polymerase chain reaction, anti-cyclic citrullinated peptide antibodies, rheumatoid factor, genetic susceptibility

Rezumat

Background:

Peptidylarginine deiminase 4 (PADI4) mediates protein citrullination, a process relevant to anti-citrullinated protein antibody formation in rheumatoid arthritis (RA). Associations between PADI4 variants and RA vary across populations.

Objective:

To determine PADI4 rs11203367 genotype distribution in RA cases and healthy controls, assess its association with RA, and examine relationships with selected laboratory parameters.

Methods:

This case-control study included 50 radiologically and immunologically confirmed RA cases and 50 age- and sex-matched healthy controls. PADI4 rs11203367 was genotyped using amplification-refractory mutation system polymerase chain reaction and agarose gel electrophoresis. Rheumatoid factor, anti-cyclic citrullinated peptide antibodies, antinuclear antibodies, C-reactive protein, and selected biochemical parameters were assessed. Continuous variables were compared using independent-samples methods; genotype and allele distributions were assessed using chi-square or Fisher’s exact tests.

Results:

CC occurred in 38/50 (76%) RA cases and 14/50 (28%) controls, while TC occurred in 12/50 (24%) cases and 36/50 (72%) controls; TT was absent. CC was associated with RA (OR 8.14, 95% CI 3.32–19.94; P<0.001). C allele frequency was 88% in cases and 64% in controls (OR 8.14, 95% CI 4.32–15.34; P<0.001). Anti-cyclic citrullinated peptide antibody levels were 154.32 ± 141.64 U/mL in cases versus 17.12 ± 15.33 U/mL in controls (P<0.001). Rheumatoid factor, antinuclear antibodies, C-reactive protein, alkaline phosphatase, and glucose were also significantly higher in cases. Among RA cases, CC was associated with anti-cyclic citrullinated peptide antibody values >30 U/mL (Fisher’s exact P=0.011).

Conclusion:

PADI4 rs11203367 was significantly associated with RA, with predominance of CC and the C allele among cases. Interpretation requires caution because of the small sample, absence of TT, and Hardy–Weinberg disequilibrium among controls.

Biografii autori

Saraswathi P, Assistant Professor, Department of Biochemistry, Chengalpattu Medical College, Chengalpattu, Tamil Nadu, India.

is an Assistant Professor in the Department of Biochemistry at Chengalpattu Medical College, Chengalpattu, Tamil Nadu, India. She completed her MBBS and MD in Biochemistry and is actively involved in undergraduate medical education, clinical biochemistry, academic activities, and biomedical research. ORCID iD: 0009-0008-3905-0386
Logapriya, Assistant Professor, Department of Biochemistry, Thiruvallur Medical College, Thiruvallur, Tamil Nadu, India.

is an Assistant Professor in the Department of Biochemistry at Thiruvallur Medical College, Thiruvallur, Tamil Nadu, India. She completed her MBBS and MD in Biochemistry and is involved in undergraduate medical teaching, laboratory medicine, academic activities, and biomedical research. ORCID iD: 0000-0002-2528-7162
Nalini, Assistant Professor, Department of Biochemistry, Government Erode Medical College, Perundurai, Tamil Nadu, India.

is an Assistant Professor in the Department of Biochemistry at Government Erode Medical College, Perundurai, Tamil Nadu, India. She completed her MBBS from Coimbatore Medical College in 2008 and her MD in Biochemistry from Coimbatore Medical College in 2023. She is involved in undergraduate medical education, clinical biochemistry, academic activities, and biomedical research. ORCID iD: 0009-0009-1114-7562

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